Mutagenetix > Incidental Mutation

Incidental Mutation 'R0504:Wnk2'

47386

Institutional Source

Beutler Lab

Gene Symbol

Wnk2

Ensembl Gene

ENSMUSG00000037989

Gene Name

WNK lysine deficient protein kinase 2

Synonyms

X83337, ESTM15, 1810073P09Rik

MMRRC Submission

038699-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R0504 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

49189779-49301490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 49238870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 564 (A564P)

Ref Sequence

ENSEMBL: ENSMUSP00000105724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035538] [ENSMUST00000049265] [ENSMUST00000091623] [ENSMUST00000110096] [ENSMUST00000110097] [ENSMUST00000159559] [ENSMUST00000162403] [ENSMUST00000162581]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035538
AA Change: A564P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047231
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	4.5e-42	PFAM
Pfam:Pkinase	195	453	1.7e-56	PFAM
Pfam:OSR1_C	474	511	5.6e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	724	N/A	INTRINSIC
low complexity region	771	803	N/A	INTRINSIC
low complexity region	821	831	N/A	INTRINSIC
low complexity region	840	854	N/A	INTRINSIC
low complexity region	875	890	N/A	INTRINSIC
low complexity region	938	954	N/A	INTRINSIC
low complexity region	983	1014	N/A	INTRINSIC
low complexity region	1021	1048	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
internal_repeat_1	1162	1185	6.72e-6	PROSPERO
low complexity region	1275	1292	N/A	INTRINSIC
low complexity region	1317	1353	N/A	INTRINSIC
low complexity region	1429	1441	N/A	INTRINSIC
low complexity region	1449	1457	N/A	INTRINSIC
low complexity region	1464	1489	N/A	INTRINSIC
low complexity region	1587	1597	N/A	INTRINSIC
low complexity region	1820	1831	N/A	INTRINSIC
coiled coil region	1836	1867	N/A	INTRINSIC
low complexity region	2033	2053	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049265
AA Change: A564P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049327
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
S_TKc	195	453	3.3e-19	SMART
Pfam:OSR1_C	474	511	5.6e-19	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	724	N/A	INTRINSIC
low complexity region	771	803	N/A	INTRINSIC
low complexity region	821	831	N/A	INTRINSIC
low complexity region	840	854	N/A	INTRINSIC
low complexity region	875	890	N/A	INTRINSIC
low complexity region	938	954	N/A	INTRINSIC
low complexity region	983	1014	N/A	INTRINSIC
low complexity region	1021	1048	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
internal_repeat_1	1162	1185	9.51e-6	PROSPERO
low complexity region	1275	1292	N/A	INTRINSIC
low complexity region	1317	1353	N/A	INTRINSIC
low complexity region	1429	1441	N/A	INTRINSIC
low complexity region	1449	1457	N/A	INTRINSIC
low complexity region	1464	1489	N/A	INTRINSIC
low complexity region	1587	1597	N/A	INTRINSIC
internal_repeat_2	1611	1703	2.12e-5	PROSPERO
low complexity region	1820	1831	N/A	INTRINSIC
coiled coil region	1836	1867	N/A	INTRINSIC
internal_repeat_2	1923	2023	2.12e-5	PROSPERO
low complexity region	2069	2089	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091623
AA Change: A564P

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089212
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	1.6e-41	PFAM
Pfam:Pkinase	195	453	1e-54	PFAM
Pfam:OSR1_C	474	511	4e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	724	N/A	INTRINSIC
low complexity region	771	803	N/A	INTRINSIC
low complexity region	821	831	N/A	INTRINSIC
low complexity region	840	854	N/A	INTRINSIC
low complexity region	875	890	N/A	INTRINSIC
low complexity region	938	954	N/A	INTRINSIC
low complexity region	983	1014	N/A	INTRINSIC
low complexity region	1021	1048	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
internal_repeat_1	1162	1185	1.52e-5	PROSPERO
low complexity region	1275	1292	N/A	INTRINSIC
low complexity region	1317	1353	N/A	INTRINSIC
low complexity region	1429	1441	N/A	INTRINSIC
low complexity region	1449	1457	N/A	INTRINSIC
low complexity region	1464	1489	N/A	INTRINSIC
low complexity region	1587	1597	N/A	INTRINSIC
internal_repeat_2	1611	1713	7.41e-5	PROSPERO
low complexity region	1820	1831	N/A	INTRINSIC
coiled coil region	1836	1867	N/A	INTRINSIC
internal_repeat_2	1923	2027	7.41e-5	PROSPERO
low complexity region	2117	2137	N/A	INTRINSIC
low complexity region	2191	2202	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110096
AA Change: A564P

SMART Domains

Protein: ENSMUSP00000105723
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	4.6e-42	PFAM
Pfam:Pkinase	195	453	1.7e-56	PFAM
Pfam:OSR1_C	474	511	5.6e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	724	N/A	INTRINSIC
low complexity region	771	803	N/A	INTRINSIC
low complexity region	821	831	N/A	INTRINSIC
low complexity region	840	854	N/A	INTRINSIC
low complexity region	875	890	N/A	INTRINSIC
low complexity region	938	954	N/A	INTRINSIC
low complexity region	1015	1038	N/A	INTRINSIC
internal_repeat_1	1064	1087	2.89e-5	PROSPERO
low complexity region	1177	1194	N/A	INTRINSIC
low complexity region	1219	1255	N/A	INTRINSIC
low complexity region	1331	1343	N/A	INTRINSIC
low complexity region	1351	1359	N/A	INTRINSIC
low complexity region	1366	1391	N/A	INTRINSIC
low complexity region	1489	1498	N/A	INTRINSIC
low complexity region	1721	1732	N/A	INTRINSIC
coiled coil region	1737	1768	N/A	INTRINSIC
low complexity region	2018	2038	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110097
AA Change: A564P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105724
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	4.7e-42	PFAM
Pfam:Pkinase	195	453	1.7e-56	PFAM
Pfam:OSR1_C	474	511	5.8e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	724	N/A	INTRINSIC
low complexity region	771	803	N/A	INTRINSIC
low complexity region	821	831	N/A	INTRINSIC
low complexity region	840	854	N/A	INTRINSIC
low complexity region	875	890	N/A	INTRINSIC
low complexity region	938	954	N/A	INTRINSIC
low complexity region	983	1014	N/A	INTRINSIC
low complexity region	1021	1048	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
internal_repeat_1	1162	1185	1.16e-5	PROSPERO
low complexity region	1275	1292	N/A	INTRINSIC
low complexity region	1317	1353	N/A	INTRINSIC
low complexity region	1429	1441	N/A	INTRINSIC
low complexity region	1449	1457	N/A	INTRINSIC
low complexity region	1464	1489	N/A	INTRINSIC
low complexity region	1587	1597	N/A	INTRINSIC
internal_repeat_2	1611	1713	5.74e-5	PROSPERO
low complexity region	1820	1831	N/A	INTRINSIC
coiled coil region	1836	1867	N/A	INTRINSIC
internal_repeat_2	1923	2027	5.74e-5	PROSPERO
low complexity region	2117	2137	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159559
AA Change: A564P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123915
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	4.7e-42	PFAM
Pfam:Pkinase	195	453	1.7e-56	PFAM
Pfam:OSR1_C	474	511	5.8e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	736	N/A	INTRINSIC
low complexity region	759	791	N/A	INTRINSIC
low complexity region	809	819	N/A	INTRINSIC
low complexity region	828	842	N/A	INTRINSIC
low complexity region	863	878	N/A	INTRINSIC
low complexity region	926	942	N/A	INTRINSIC
low complexity region	971	1002	N/A	INTRINSIC
low complexity region	1009	1036	N/A	INTRINSIC
low complexity region	1101	1124	N/A	INTRINSIC
internal_repeat_1	1150	1173	7.19e-6	PROSPERO
low complexity region	1263	1280	N/A	INTRINSIC
low complexity region	1305	1341	N/A	INTRINSIC
low complexity region	1417	1429	N/A	INTRINSIC
low complexity region	1437	1445	N/A	INTRINSIC
low complexity region	1452	1477	N/A	INTRINSIC
low complexity region	1575	1585	N/A	INTRINSIC
internal_repeat_2	1599	1701	3.66e-5	PROSPERO
low complexity region	1808	1819	N/A	INTRINSIC
coiled coil region	1824	1855	N/A	INTRINSIC
internal_repeat_2	1911	2015	3.66e-5	PROSPERO
low complexity region	2105	2125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162403
AA Change: A564P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125539
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	4.3e-42	PFAM
Pfam:Pkinase	195	453	1.6e-56	PFAM
Pfam:OSR1_C	474	511	5.3e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	736	N/A	INTRINSIC
low complexity region	759	791	N/A	INTRINSIC
low complexity region	809	819	N/A	INTRINSIC
low complexity region	828	842	N/A	INTRINSIC
low complexity region	863	878	N/A	INTRINSIC
low complexity region	926	942	N/A	INTRINSIC
low complexity region	1003	1026	N/A	INTRINSIC
internal_repeat_1	1052	1075	1.05e-5	PROSPERO
low complexity region	1165	1182	N/A	INTRINSIC
low complexity region	1207	1243	N/A	INTRINSIC
low complexity region	1319	1331	N/A	INTRINSIC
low complexity region	1339	1347	N/A	INTRINSIC
low complexity region	1354	1379	N/A	INTRINSIC
low complexity region	1477	1487	N/A	INTRINSIC
internal_repeat_2	1501	1593	2.32e-5	PROSPERO
low complexity region	1710	1721	N/A	INTRINSIC
coiled coil region	1726	1757	N/A	INTRINSIC
internal_repeat_2	1813	1913	2.32e-5	PROSPERO
low complexity region	1959	1979	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162581
AA Change: A564P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125448
Gene: ENSMUSG00000037989
AA Change: A564P

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC
Pfam:Pkinase_Tyr	195	451	4.5e-42	PFAM
Pfam:Pkinase	195	453	1.7e-56	PFAM
Pfam:OSR1_C	474	511	5.6e-22	PFAM
low complexity region	582	593	N/A	INTRINSIC
low complexity region	626	642	N/A	INTRINSIC
low complexity region	678	693	N/A	INTRINSIC
low complexity region	707	724	N/A	INTRINSIC
low complexity region	771	803	N/A	INTRINSIC
low complexity region	821	831	N/A	INTRINSIC
low complexity region	840	854	N/A	INTRINSIC
low complexity region	875	890	N/A	INTRINSIC
low complexity region	938	954	N/A	INTRINSIC
low complexity region	983	1014	N/A	INTRINSIC
low complexity region	1021	1048	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
internal_repeat_1	1162	1185	6.72e-6	PROSPERO
low complexity region	1275	1292	N/A	INTRINSIC
low complexity region	1317	1353	N/A	INTRINSIC
low complexity region	1429	1441	N/A	INTRINSIC
low complexity region	1449	1457	N/A	INTRINSIC
low complexity region	1464	1489	N/A	INTRINSIC
low complexity region	1587	1597	N/A	INTRINSIC
low complexity region	1820	1831	N/A	INTRINSIC
coiled coil region	1836	1867	N/A	INTRINSIC
low complexity region	2033	2053	N/A	INTRINSIC

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (145/147)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 144 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,128,057 (GRCm39)		probably benign	Het
Adamts6	T	C	13: 104,563,438 (GRCm39)		probably benign	Het
Adamts9	T	A	6: 92,889,626 (GRCm39)	Y316F	probably damaging	Het
Agl	A	T	3: 116,580,433 (GRCm39)	F374I	probably damaging	Het
Akr1c19	A	G	13: 4,286,250 (GRCm39)	T83A	possibly damaging	Het
Ankrd36	T	A	11: 5,579,274 (GRCm39)	S179R	probably damaging	Het
Appbp2	A	G	11: 85,082,513 (GRCm39)	S573P	probably benign	Het
Arid4a	T	A	12: 71,093,988 (GRCm39)	F254I	probably damaging	Het
Bin3	T	C	14: 70,361,336 (GRCm39)		probably null	Het
Bmi1	T	C	2: 18,688,883 (GRCm39)		probably null	Het
Bmper	G	T	9: 23,317,983 (GRCm39)	C534F	probably damaging	Het
Bora	T	A	14: 99,299,059 (GRCm39)	C205*	probably null	Het
Btnl2	A	G	17: 34,577,091 (GRCm39)	E82G	probably benign	Het
Ccdc8	A	T	7: 16,729,939 (GRCm39)	D476V	unknown	Het
Ccr3	C	A	9: 123,829,478 (GRCm39)	T271K	possibly damaging	Het
Cd276	A	G	9: 58,447,961 (GRCm39)	L23P	possibly damaging	Het
Cd3e	T	C	9: 44,913,552 (GRCm39)	Q61R	probably benign	Het
Cep97	A	G	16: 55,726,142 (GRCm39)	S582P	probably benign	Het
Chml	A	T	1: 175,514,748 (GRCm39)	M391K	probably damaging	Het
Chst1	A	G	2: 92,444,169 (GRCm39)	N214D	probably benign	Het
Chuk	T	C	19: 44,070,377 (GRCm39)		probably benign	Het
Col12a1	G	A	9: 79,588,750 (GRCm39)	H1122Y	possibly damaging	Het
Cpne6	A	G	14: 55,752,059 (GRCm39)	K272R	probably damaging	Het
Cpsf2	T	A	12: 101,956,262 (GRCm39)	L355Q	probably damaging	Het
Cyp2c29	T	A	19: 39,298,224 (GRCm39)	D256E	probably benign	Het
Daglb	G	A	5: 143,479,952 (GRCm39)	V420I	probably benign	Het
Ddx42	G	T	11: 106,138,675 (GRCm39)	G825C	probably benign	Het
Dis3	T	C	14: 99,318,826 (GRCm39)		probably benign	Het
Dkk4	C	T	8: 23,115,359 (GRCm39)	R70C	probably damaging	Het
Dock6	G	T	9: 21,713,732 (GRCm39)	Q1933K	probably damaging	Het
Dpep2	T	G	8: 106,716,620 (GRCm39)	Q186H	probably benign	Het
Dzip3	A	C	16: 48,780,006 (GRCm39)		probably benign	Het
Egflam	T	A	15: 7,252,239 (GRCm39)	I853F	probably damaging	Het
Fastkd5	A	G	2: 130,457,837 (GRCm39)	I251T	probably benign	Het
Fbn2	T	A	18: 58,172,532 (GRCm39)	D2091V	possibly damaging	Het
Fem1al	T	C	11: 29,774,990 (GRCm39)	I156V	probably damaging	Het
Fer1l4	C	A	2: 155,894,115 (GRCm39)	V63L	probably benign	Het
Frem1	T	A	4: 82,830,874 (GRCm39)	D2062V	probably benign	Het
Galnt6	A	C	15: 100,594,538 (GRCm39)		probably benign	Het
Get3	A	C	8: 85,745,236 (GRCm39)	V277G	probably damaging	Het
Gm10972	A	T	3: 94,550,440 (GRCm39)		probably benign	Het
Gm4846	G	A	1: 166,319,114 (GRCm39)	T208I	probably benign	Het
Gorab	A	G	1: 163,214,174 (GRCm39)	L252P	probably damaging	Het
Gtsf2	A	G	15: 103,352,988 (GRCm39)	C63R	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hmcn1	A	T	1: 150,752,170 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,833 (GRCm39)	H191Q	possibly damaging	Het
Hspa2	A	T	12: 76,451,990 (GRCm39)	D228V	probably damaging	Het
Igfn1	A	T	1: 135,896,267 (GRCm39)	M1433K	probably benign	Het
Il18	A	G	9: 50,486,628 (GRCm39)	D19G	probably damaging	Het
Il1rl2	G	A	1: 40,368,216 (GRCm39)	V129I	probably benign	Het
Inpp5b	C	A	4: 124,676,201 (GRCm39)	Y352*	probably null	Het
Insrr	A	T	3: 87,720,463 (GRCm39)	M1034L	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,534 (GRCm39)	S1296P	probably damaging	Het
Kdm5b	G	T	1: 134,548,761 (GRCm39)		probably null	Het
Krba1	C	T	6: 48,393,188 (GRCm39)	T998I	probably benign	Het
L3mbtl4	A	G	17: 69,084,907 (GRCm39)	N606S	probably benign	Het
Lonrf1	T	A	8: 36,698,313 (GRCm39)	N395I	possibly damaging	Het
Lpp	A	G	16: 24,790,720 (GRCm39)	D393G	probably damaging	Het
Lrrc17	A	G	5: 21,765,528 (GRCm39)	I3M	probably benign	Het
Lrrtm4	A	T	6: 79,999,029 (GRCm39)	Q147L	probably damaging	Het
Map1a	A	G	2: 121,133,422 (GRCm39)	M1413V	probably benign	Het
Mapk8ip2	A	G	15: 89,340,861 (GRCm39)	E102G	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mdn1	T	C	4: 32,698,916 (GRCm39)		probably benign	Het
Mfng	A	C	15: 78,641,514 (GRCm39)	H294Q	probably benign	Het
Mical2	T	A	7: 111,870,524 (GRCm39)	N4K	probably benign	Het
Mov10l1	T	A	15: 88,883,042 (GRCm39)	V384E	probably damaging	Het
Myo18b	A	G	5: 113,021,442 (GRCm39)		probably benign	Het
Nlrp1b	T	G	11: 71,073,241 (GRCm39)	I201L	probably damaging	Het
Nos2	C	T	11: 78,830,903 (GRCm39)	P249L	probably damaging	Het
Notch4	A	G	17: 34,794,065 (GRCm39)	T681A	probably damaging	Het
Nr1i3	C	T	1: 171,044,805 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,333 (GRCm39)		probably null	Het
Onecut2	A	T	18: 64,473,820 (GRCm39)	I124F	possibly damaging	Het
Or10a49	C	T	7: 108,468,057 (GRCm39)	M101I	possibly damaging	Het
Or2a14	A	T	6: 43,130,395 (GRCm39)	H52L	probably benign	Het
Or2ag1	T	A	7: 106,313,908 (GRCm39)		probably benign	Het
Or2f2	C	T	6: 42,767,530 (GRCm39)	R186*	probably null	Het
Or2t47	C	A	11: 58,442,462 (GRCm39)	C201F	probably damaging	Het
Or4a75	A	T	2: 89,448,438 (GRCm39)	Y33N	probably damaging	Het
Or4c123	C	T	2: 89,127,083 (GRCm39)	C177Y	probably damaging	Het
Or52u1	C	T	7: 104,237,682 (GRCm39)	R224*	probably null	Het
Or5m12	T	A	2: 85,735,030 (GRCm39)	M123L	possibly damaging	Het
Or8b35	A	G	9: 37,904,438 (GRCm39)	T217A	probably benign	Het
Otol1	G	A	3: 69,934,937 (GRCm39)	G310R	probably damaging	Het
Oxct2b	T	A	4: 123,010,633 (GRCm39)	S184R	possibly damaging	Het
Oxct2b	ACTG	A	4: 123,010,705 (GRCm39)		probably benign	Het
P2rx6	A	G	16: 17,385,291 (GRCm39)		probably benign	Het
Pde4a	A	G	9: 21,115,699 (GRCm39)	N411S	probably damaging	Het
Phkb	A	T	8: 86,783,153 (GRCm39)	D983V	probably benign	Het
Piezo2	G	A	18: 63,157,522 (GRCm39)	T2396I	probably damaging	Het
Pik3ap1	T	A	19: 41,275,929 (GRCm39)	D717V	probably damaging	Het
Plce1	T	A	19: 38,766,465 (GRCm39)		probably benign	Het
Plekhg1	A	G	10: 3,887,853 (GRCm39)	I261V	probably damaging	Het
Ppfia4	T	C	1: 134,251,851 (GRCm39)	H441R	probably damaging	Het
Prpf8	T	A	11: 75,392,768 (GRCm39)		probably benign	Het
Ptn	T	A	6: 36,718,388 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,649,362 (GRCm39)	Y255C	possibly damaging	Het
Ptpn4	A	G	1: 119,693,645 (GRCm39)	Y126H	probably damaging	Het
Ptprc	T	C	1: 138,016,435 (GRCm39)	N505D	probably damaging	Het
Ptprs	T	A	17: 56,761,220 (GRCm39)	I116F	possibly damaging	Het
Rab1a	T	G	11: 20,173,169 (GRCm39)	V90G	probably damaging	Het
Rcor1	T	C	12: 111,068,102 (GRCm39)	V267A	probably benign	Het
Reep4	A	G	14: 70,784,678 (GRCm39)		probably null	Het
Rere	T	A	4: 150,699,779 (GRCm39)		probably benign	Het
Rin3	T	A	12: 102,353,823 (GRCm39)	Y743*	probably null	Het
Rprm	A	G	2: 53,975,067 (GRCm39)	S84P	probably damaging	Het
Sdhaf2	C	T	19: 10,494,383 (GRCm39)	E109K	probably damaging	Het
Sec31b	G	T	19: 44,523,225 (GRCm39)	Q24K	probably damaging	Het
Sema5a	T	C	15: 32,574,949 (GRCm39)		probably benign	Het
Sh3pxd2a	T	C	19: 47,256,186 (GRCm39)	Y844C	probably damaging	Het
Shmt2	A	C	10: 127,355,941 (GRCm39)	N134K	probably damaging	Het
Slc9a8	C	T	2: 167,266,125 (GRCm39)	A34V	probably benign	Het
Spidr	A	C	16: 15,957,936 (GRCm39)	S64A	possibly damaging	Het
Stk10	A	G	11: 32,567,882 (GRCm39)	T895A	probably benign	Het
Syne2	A	T	12: 76,080,365 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,230,149 (GRCm39)		probably null	Het
Tecpr1	A	T	5: 144,150,899 (GRCm39)	V303D	probably damaging	Het
Tet3	A	G	6: 83,350,776 (GRCm39)	Y1048H	probably damaging	Het
Tfb2m	A	G	1: 179,373,396 (GRCm39)	C101R	probably damaging	Het
Tg	T	C	15: 66,554,253 (GRCm39)	V556A	probably damaging	Het
Thbs4	A	C	13: 92,903,692 (GRCm39)	I441M	probably benign	Het
Thsd7a	A	T	6: 12,379,593 (GRCm39)	Y944N	probably damaging	Het
Tm9sf3	C	A	19: 41,236,331 (GRCm39)		probably benign	Het
Tmem145	T	C	7: 25,010,787 (GRCm39)	F359S	probably damaging	Het
Ttc21b	C	T	2: 66,053,142 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,579,880 (GRCm39)	V23671A	probably damaging	Het
Txnl4b	T	C	8: 110,298,103 (GRCm39)	I78T	probably benign	Het
Ubr4	C	A	4: 139,133,889 (GRCm39)	L762I	probably damaging	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ugt1a8	C	T	1: 88,016,079 (GRCm39)	P164L	probably damaging	Het
Unc13b	T	C	4: 43,263,559 (GRCm39)	S1594P	probably damaging	Het
Utrn	A	T	10: 12,278,639 (GRCm39)	F912I	probably benign	Het
Vat1l	T	C	8: 114,963,319 (GRCm39)		probably benign	Het
Vmn1r50	T	A	6: 90,084,863 (GRCm39)	S203T	probably damaging	Het
Vmn2r4	A	T	3: 64,296,784 (GRCm39)	L667Q	probably damaging	Het
Vmn2r66	T	G	7: 84,656,023 (GRCm39)	Q331P	probably damaging	Het
Wdsub1	A	T	2: 59,708,669 (GRCm39)	V68D	possibly damaging	Het
Zan	T	A	5: 137,468,580 (GRCm39)	H297L	probably damaging	Het
Zfp426	A	T	9: 20,381,327 (GRCm39)	H539Q	probably damaging	Het
Zfp488	T	A	14: 33,692,497 (GRCm39)	N222I	probably damaging	Het
Zfp536	T	A	7: 37,268,243 (GRCm39)	H391L	probably damaging	Het
Zp1	T	A	19: 10,893,571 (GRCm39)	N31I	probably damaging	Het

Other mutations in Wnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Wnk2	APN	13	49,221,668 (GRCm39)	missense	possibly damaging	0.89
IGL01575:Wnk2	APN	13	49,300,152 (GRCm39)	missense	probably damaging	1.00
IGL01601:Wnk2	APN	13	49,230,038 (GRCm39)	missense	probably damaging	1.00
IGL01775:Wnk2	APN	13	49,224,586 (GRCm39)	missense	probably damaging	1.00
IGL02013:Wnk2	APN	13	49,235,510 (GRCm39)	missense	possibly damaging	0.46
IGL02016:Wnk2	APN	13	49,210,381 (GRCm39)	missense	probably damaging	1.00
IGL02167:Wnk2	APN	13	49,224,601 (GRCm39)	critical splice acceptor site	probably null
IGL02174:Wnk2	APN	13	49,210,643 (GRCm39)	missense	probably damaging	1.00
IGL02210:Wnk2	APN	13	49,244,345 (GRCm39)	missense	probably damaging	0.98
IGL02228:Wnk2	APN	13	49,210,416 (GRCm39)	missense	probably damaging	1.00
IGL02282:Wnk2	APN	13	49,221,601 (GRCm39)	missense	probably damaging	1.00
IGL02319:Wnk2	APN	13	49,214,914 (GRCm39)	missense	possibly damaging	0.73
IGL02394:Wnk2	APN	13	49,235,375 (GRCm39)	splice site	probably null
IGL02624:Wnk2	APN	13	49,256,278 (GRCm39)	missense	probably damaging	1.00
IGL02743:Wnk2	APN	13	49,248,920 (GRCm39)	missense	probably damaging	1.00
IGL03012:Wnk2	APN	13	49,197,865 (GRCm39)	missense	probably damaging	0.99
IGL03166:Wnk2	APN	13	49,224,520 (GRCm39)	nonsense	probably null
R0034:Wnk2	UTSW	13	49,221,556 (GRCm39)	missense	possibly damaging	0.64
R0385:Wnk2	UTSW	13	49,221,604 (GRCm39)	missense	probably damaging	1.00
R0423:Wnk2	UTSW	13	49,248,894 (GRCm39)	missense	possibly damaging	0.91
R0504:Wnk2	UTSW	13	49,238,872 (GRCm39)	missense	probably damaging	1.00
R0653:Wnk2	UTSW	13	49,210,492 (GRCm39)	missense	possibly damaging	0.85
R1135:Wnk2	UTSW	13	49,230,034 (GRCm39)	missense	probably damaging	1.00
R1445:Wnk2	UTSW	13	49,224,586 (GRCm39)	missense	probably damaging	1.00
R1464:Wnk2	UTSW	13	49,235,451 (GRCm39)	missense	probably damaging	1.00
R1464:Wnk2	UTSW	13	49,235,451 (GRCm39)	missense	probably damaging	1.00
R1468:Wnk2	UTSW	13	49,235,571 (GRCm39)	missense	probably damaging	0.99
R1468:Wnk2	UTSW	13	49,235,571 (GRCm39)	missense	probably damaging	0.99
R1480:Wnk2	UTSW	13	49,210,708 (GRCm39)	missense	probably damaging	1.00
R1605:Wnk2	UTSW	13	49,214,370 (GRCm39)	missense	probably damaging	1.00
R1719:Wnk2	UTSW	13	49,214,202 (GRCm39)	missense	possibly damaging	0.76
R1891:Wnk2	UTSW	13	49,206,200 (GRCm39)	nonsense	probably null
R1966:Wnk2	UTSW	13	49,192,487 (GRCm39)	missense	probably damaging	0.96
R2001:Wnk2	UTSW	13	49,232,158 (GRCm39)	missense	possibly damaging	0.61
R2310:Wnk2	UTSW	13	49,204,053 (GRCm39)	missense	probably damaging	0.97
R2356:Wnk2	UTSW	13	49,192,644 (GRCm39)	nonsense	probably null
R2406:Wnk2	UTSW	13	49,214,964 (GRCm39)	missense	possibly damaging	0.86
R2519:Wnk2	UTSW	13	49,224,505 (GRCm39)	missense	probably damaging	0.99
R3962:Wnk2	UTSW	13	49,224,453 (GRCm39)	missense	probably damaging	1.00
R4160:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4161:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4226:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4227:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4234:Wnk2	UTSW	13	49,214,604 (GRCm39)	missense	probably benign	0.33
R4304:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4308:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4584:Wnk2	UTSW	13	49,244,313 (GRCm39)	missense	probably damaging	1.00
R4655:Wnk2	UTSW	13	49,210,359 (GRCm39)	missense	probably damaging	1.00
R4715:Wnk2	UTSW	13	49,300,708 (GRCm39)	start codon destroyed	unknown
R4887:Wnk2	UTSW	13	49,224,478 (GRCm39)	missense	probably damaging	1.00
R4888:Wnk2	UTSW	13	49,224,478 (GRCm39)	missense	probably damaging	1.00
R4945:Wnk2	UTSW	13	49,210,722 (GRCm39)	missense	probably damaging	1.00
R5182:Wnk2	UTSW	13	49,214,637 (GRCm39)	missense	possibly damaging	0.92
R5243:Wnk2	UTSW	13	49,226,054 (GRCm39)	missense	possibly damaging	0.51
R5370:Wnk2	UTSW	13	49,256,437 (GRCm39)	missense	probably damaging	1.00
R5771:Wnk2	UTSW	13	49,256,276 (GRCm39)	missense	probably damaging	1.00
R5877:Wnk2	UTSW	13	49,220,782 (GRCm39)	missense	probably damaging	0.98
R5900:Wnk2	UTSW	13	49,256,308 (GRCm39)	missense	probably damaging	1.00
R5905:Wnk2	UTSW	13	49,229,821 (GRCm39)	missense	probably damaging	0.99
R5912:Wnk2	UTSW	13	49,214,250 (GRCm39)	missense	probably damaging	1.00
R5915:Wnk2	UTSW	13	49,231,561 (GRCm39)	missense	probably damaging	0.99
R6028:Wnk2	UTSW	13	49,229,821 (GRCm39)	missense	probably damaging	0.99
R6074:Wnk2	UTSW	13	49,204,875 (GRCm39)	missense	probably damaging	1.00
R6171:Wnk2	UTSW	13	49,214,308 (GRCm39)	missense	probably damaging	1.00
R6368:Wnk2	UTSW	13	49,214,814 (GRCm39)	missense	probably damaging	0.99
R6467:Wnk2	UTSW	13	49,300,081 (GRCm39)	missense	probably damaging	1.00
R6501:Wnk2	UTSW	13	49,300,159 (GRCm39)	missense	probably damaging	1.00
R6849:Wnk2	UTSW	13	49,220,834 (GRCm39)	missense	probably damaging	1.00
R6898:Wnk2	UTSW	13	49,224,557 (GRCm39)	missense	probably damaging	1.00
R6949:Wnk2	UTSW	13	49,254,616 (GRCm39)	missense	probably damaging	1.00
R7011:Wnk2	UTSW	13	49,224,567 (GRCm39)	missense	probably damaging	0.99
R7097:Wnk2	UTSW	13	49,256,314 (GRCm39)	missense	possibly damaging	0.86
R7121:Wnk2	UTSW	13	49,300,653 (GRCm39)	missense	probably benign	0.26
R7123:Wnk2	UTSW	13	49,235,462 (GRCm39)	missense	possibly damaging	0.90
R7423:Wnk2	UTSW	13	49,191,608 (GRCm39)	missense	probably benign	0.07
R7502:Wnk2	UTSW	13	49,300,720 (GRCm39)	splice site	probably null
R7529:Wnk2	UTSW	13	49,254,457 (GRCm39)	missense	possibly damaging	0.50
R7751:Wnk2	UTSW	13	49,231,493 (GRCm39)	missense	unknown
R7979:Wnk2	UTSW	13	49,248,884 (GRCm39)	missense	probably damaging	1.00
R8118:Wnk2	UTSW	13	49,244,459 (GRCm39)	missense	probably damaging	0.99
R8121:Wnk2	UTSW	13	49,214,415 (GRCm39)	nonsense	probably null
R8155:Wnk2	UTSW	13	49,192,577 (GRCm39)	missense	unknown
R8329:Wnk2	UTSW	13	49,248,914 (GRCm39)	missense	probably damaging	1.00
R8334:Wnk2	UTSW	13	49,203,958 (GRCm39)	critical splice donor site	probably null
R8872:Wnk2	UTSW	13	49,210,960 (GRCm39)	missense	probably benign	0.00
R8919:Wnk2	UTSW	13	49,221,711 (GRCm39)	missense	possibly damaging	0.86
R9091:Wnk2	UTSW	13	49,224,505 (GRCm39)	missense	probably benign	0.41
R9234:Wnk2	UTSW	13	49,224,274 (GRCm39)	missense	probably damaging	0.99
R9262:Wnk2	UTSW	13	49,221,430 (GRCm39)	missense	probably benign	0.12
R9268:Wnk2	UTSW	13	49,235,507 (GRCm39)	missense	possibly damaging	0.82
R9270:Wnk2	UTSW	13	49,224,505 (GRCm39)	missense	probably benign	0.41
R9386:Wnk2	UTSW	13	49,220,822 (GRCm39)	missense	probably damaging	0.98
R9582:Wnk2	UTSW	13	49,210,975 (GRCm39)	missense	probably benign	0.01
R9617:Wnk2	UTSW	13	49,192,453 (GRCm39)	missense	unknown
R9625:Wnk2	UTSW	13	49,254,445 (GRCm39)	missense	probably benign	0.20
R9794:Wnk2	UTSW	13	49,229,674 (GRCm39)	missense	probably benign	0.02
RF023:Wnk2	UTSW	13	49,300,255 (GRCm39)	missense	probably benign	0.00
X0025:Wnk2	UTSW	13	49,214,418 (GRCm39)	missense	probably damaging	0.99
X0063:Wnk2	UTSW	13	49,192,453 (GRCm39)	missense	unknown
Z1176:Wnk2	UTSW	13	49,191,537 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGACCACTTACTGCTGGAAGCAAC -3'
(R):5'- TGGCTGATCCCCAACACACTTGAC -3'

Sequencing Primer
(F):5'- ACATAGCTGACTGTGGTGACC -3'
(R):5'- GTGAAGATTGTGGCCAAGTC -3'

Posted On

2013-06-12