Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Wnk2'

377009

Institutional Source

Beutler Lab

Gene Symbol

Wnk2

Ensembl Gene

ENSMUSG00000037989

Gene Name

WNK lysine deficient protein kinase 2

Synonyms

ESTM15, X83337, 1810073P09Rik

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49036303-49148014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49071002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 268 (R268C)

Ref Sequence

ENSEMBL: ENSMUSP00000124614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035538] [ENSMUST00000049265] [ENSMUST00000091623] [ENSMUST00000110096] [ENSMUST00000110097] [ENSMUST00000159559] [ENSMUST00000160087] [ENSMUST00000162403] [ENSMUST00000162581]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035538
AA Change: R1126C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047231
Gene: ENSMUSG00000037989
AA Change: R1126C

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

probably damaging
Transcript: ENSMUST00000049265
AA Change: R1126C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049327
Gene: ENSMUSG00000037989
AA Change: R1126C

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

probably damaging
Transcript: ENSMUST00000091623
AA Change: R1126C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089212
Gene: ENSMUSG00000037989
AA Change: R1126C

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

probably damaging
Transcript: ENSMUST00000110096
AA Change: R1028C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105723
Gene: ENSMUSG00000037989
AA Change: R1028C

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

probably damaging
Transcript: ENSMUST00000110097
AA Change: R1126C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105724
Gene: ENSMUSG00000037989
AA Change: R1126C

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

probably damaging
Transcript: ENSMUST00000159559
AA Change: R1114C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123915
Gene: ENSMUSG00000037989
AA Change: R1114C

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

unknown
Transcript: ENSMUST00000159633
AA Change: R5C

Predicted Effect

probably damaging
Transcript: ENSMUST00000160087
AA Change: R268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124614
Gene: ENSMUSG00000037989
AA Change: R268C

Domain	Start	End	E-Value	Type
low complexity region	61	71	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	115	130	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
low complexity region	255	278	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC
low complexity region	459	495	N/A	INTRINSIC
low complexity region	571	583	N/A	INTRINSIC
low complexity region	591	599	N/A	INTRINSIC
low complexity region	606	631	N/A	INTRINSIC
low complexity region	729	738	N/A	INTRINSIC
low complexity region	961	972	N/A	INTRINSIC
coiled coil region	977	1008	N/A	INTRINSIC
low complexity region	1258	1278	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162403
AA Change: R1016C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125539
Gene: ENSMUSG00000037989
AA Change: R1016C

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 damaging
Transcript: ENSMUST00000162581
AA Change: R1126C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125448
Gene: ENSMUSG00000037989
AA Change: R1126C

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

0.2608

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,324	I22F	possibly damaging	Het
2310009B15Rik	A	C	1: 138,852,165	Y116*	probably null	Het
4930548H24Rik	A	G	5: 31,486,252	I109V	probably benign	Het
Acer3	T	C	7: 98,257,701	T91A	possibly damaging	Het
Adam12	T	C	7: 134,172,821	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,574,614	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,454,378	V98I	probably benign	Het
Alpk1	C	T	3: 127,673,475	G1052R	probably damaging	Het
Anln	A	T	9: 22,380,188	S115T	possibly damaging	Het
Apob	T	A	12: 8,013,099	N3827K	probably damaging	Het
Aqr	G	A	2: 114,150,509	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,532,192	S123G	probably damaging	Het
Arvcf	C	T	16: 18,398,113	R333*	probably null	Het
Brca2	T	A	5: 150,556,937	L2724Q	probably damaging	Het
Btbd11	C	T	10: 85,387,378	T17M	unknown	Het
C2cd6	T	A	1: 59,094,734	T43S	probably benign	Het
Cacna1h	A	G	17: 25,377,287	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,772	I26F	possibly damaging	Het
Card10	A	T	15: 78,781,524	V673E	possibly damaging	Het
Ccar1	A	G	10: 62,753,218	S829P	unknown	Het
Cdc42bpa	T	C	1: 180,144,635	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,520,832	C267Y	probably benign	Het
Cep68	G	A	11: 20,239,239	T591M	probably benign	Het
Chil4	T	C	3: 106,204,144	K218R	probably benign	Het
Cldn14	G	T	16: 93,919,859	T33K	possibly damaging	Het
Copa	T	A	1: 172,092,276	C140S	probably benign	Het
Coq6	T	C	12: 84,372,296	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,872,068	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,497,159	S414A	probably benign	Het
Dpm1	T	C	2: 168,217,759	N139S	probably benign	Het
Dpp7	T	A	2: 25,352,758		probably null	Het
Ednrb	T	C	14: 103,820,011	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Fam135a	G	A	1: 24,024,253	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866	T275A	probably benign	Het
Fbn1	T	A	2: 125,309,774	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,581,961	S587P	unknown	Het
Foxr2	A	G	X: 153,130,316	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,902,416	*124W	probably null	Het
Gm16432	A	G	1: 178,103,949	Y478C	unknown	Het
Gm7535	T	A	17: 17,911,071		probably benign	Het
Gm884	T	C	11: 103,614,872	H2090R	probably benign	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Herc3	T	C	6: 58,887,499	V706A	probably damaging	Het
Hist1h4a	T	C	13: 23,760,952	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,322,650	I382V	probably benign	Het
Ints1	G	T	5: 139,771,156	T467N	possibly damaging	Het
Iqca	G	A	1: 90,045,701	T783M	probably damaging	Het
Kng1	A	G	16: 23,067,698	K131R	possibly damaging	Het
Krt35	T	C	11: 100,093,130	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 102,113,536	C64R	probably damaging	Het
Lilr4b	C	T	10: 51,484,520	A272V	possibly damaging	Het
Ltn1	A	T	16: 87,398,809	C1276*	probably null	Het
Matn1	G	A	4: 130,952,114	A360T	probably benign	Het
Minpp1	G	A	19: 32,498,384	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,546,409		probably benign	Het
Ms4a2	A	G	19: 11,618,429	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,077,103	Y235*	probably null	Het
Myh4	G	T	11: 67,241,054	W113C	probably damaging	Het
Nav2	T	A	7: 49,548,434	C1270*	probably null	Het
Ncoa5	A	G	2: 165,002,150	L111P	probably damaging	Het
Nup107	T	C	10: 117,770,478	Y453C	probably damaging	Het
Oca2	C	T	7: 56,330,358	Q604*	probably null	Het
Olfr116	A	T	17: 37,623,891	V248D	probably damaging	Het
Olfr1339	A	C	4: 118,734,688	H53P	probably benign	Het
Olfr482	T	A	7: 108,095,096	N158I	probably benign	Het
Olfr525	T	C	7: 140,323,101	M134T	probably benign	Het
Olfr952	T	C	9: 39,426,235	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,470,942	G514V	possibly damaging	Het
Pik3cb	A	T	9: 99,101,328	C76S	probably damaging	Het
Plk1	T	C	7: 122,168,605	V411A	probably damaging	Het
Pole	C	T	5: 110,324,753	P1600L	probably damaging	Het
Prr36	T	C	8: 4,210,881	T979A	probably benign	Het
Rdh7	T	A	10: 127,885,721	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,915,113	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,798,694	S947T	probably benign	Het
Rtl1	A	G	12: 109,591,704	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,791,708	M279I	probably damaging	Het
Siae	T	C	9: 37,627,800	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,249,752	V364I	probably benign	Het
Sltm	G	T	9: 70,588,978	V932F	probably damaging	Het
Smad1	A	G	8: 79,349,752	L279P	probably damaging	Het
Spag17	G	T	3: 100,050,831	G935V	probably damaging	Het
Srgap3	A	G	6: 112,746,934	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,809,100	I519V	probably benign	Het
Syt16	A	T	12: 74,129,386	I10F	probably damaging	Het
Trim43b	C	G	9: 89,091,312	G123R	probably damaging	Het
Ubr3	T	C	2: 70,013,131	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,377,986	W303R	probably benign	Het
Wdr93	T	C	7: 79,785,774	Y684H	probably damaging	Het
Zfp438	C	T	18: 5,213,776	C394Y	possibly damaging	Het

Other mutations in Wnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Wnk2	APN	13	49068192	missense	possibly damaging	0.89
IGL01575:Wnk2	APN	13	49146676	missense	probably damaging	1.00
IGL01601:Wnk2	APN	13	49076562	missense	probably damaging	1.00
IGL01775:Wnk2	APN	13	49071110	missense	probably damaging	1.00
IGL02013:Wnk2	APN	13	49082034	missense	possibly damaging	0.46
IGL02016:Wnk2	APN	13	49056905	missense	probably damaging	1.00
IGL02167:Wnk2	APN	13	49071125	critical splice acceptor site	probably null
IGL02174:Wnk2	APN	13	49057167	missense	probably damaging	1.00
IGL02210:Wnk2	APN	13	49090869	missense	probably damaging	0.98
IGL02228:Wnk2	APN	13	49056940	missense	probably damaging	1.00
IGL02282:Wnk2	APN	13	49068125	missense	probably damaging	1.00
IGL02319:Wnk2	APN	13	49061438	missense	possibly damaging	0.73
IGL02394:Wnk2	APN	13	49081899	splice site	probably null
IGL02624:Wnk2	APN	13	49102802	missense	probably damaging	1.00
IGL02743:Wnk2	APN	13	49095444	missense	probably damaging	1.00
IGL03012:Wnk2	APN	13	49044389	missense	probably damaging	0.99
IGL03166:Wnk2	APN	13	49071044	nonsense	probably null
R0034:Wnk2	UTSW	13	49068080	missense	possibly damaging	0.64
R0385:Wnk2	UTSW	13	49068128	missense	probably damaging	1.00
R0423:Wnk2	UTSW	13	49095418	missense	possibly damaging	0.91
R0504:Wnk2	UTSW	13	49085394	missense	possibly damaging	0.92
R0504:Wnk2	UTSW	13	49085396	missense	probably damaging	1.00
R0653:Wnk2	UTSW	13	49057016	missense	possibly damaging	0.85
R1135:Wnk2	UTSW	13	49076558	missense	probably damaging	1.00
R1445:Wnk2	UTSW	13	49071110	missense	probably damaging	1.00
R1464:Wnk2	UTSW	13	49081975	missense	probably damaging	1.00
R1464:Wnk2	UTSW	13	49081975	missense	probably damaging	1.00
R1468:Wnk2	UTSW	13	49082095	missense	probably damaging	0.99
R1468:Wnk2	UTSW	13	49082095	missense	probably damaging	0.99
R1480:Wnk2	UTSW	13	49057232	missense	probably damaging	1.00
R1605:Wnk2	UTSW	13	49060894	missense	probably damaging	1.00
R1719:Wnk2	UTSW	13	49060726	missense	possibly damaging	0.76
R1891:Wnk2	UTSW	13	49052724	nonsense	probably null
R1966:Wnk2	UTSW	13	49039011	missense	probably damaging	0.96
R2001:Wnk2	UTSW	13	49078682	missense	possibly damaging	0.61
R2310:Wnk2	UTSW	13	49050577	missense	probably damaging	0.97
R2356:Wnk2	UTSW	13	49039168	nonsense	probably null
R2406:Wnk2	UTSW	13	49061488	missense	possibly damaging	0.86
R2519:Wnk2	UTSW	13	49071029	missense	probably damaging	0.99
R3962:Wnk2	UTSW	13	49070977	missense	probably damaging	1.00
R4160:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4161:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4226:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4227:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4234:Wnk2	UTSW	13	49061128	missense	probably benign	0.33
R4304:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4308:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4584:Wnk2	UTSW	13	49090837	missense	probably damaging	1.00
R4655:Wnk2	UTSW	13	49056883	missense	probably damaging	1.00
R4715:Wnk2	UTSW	13	49147232	start codon destroyed	unknown
R4888:Wnk2	UTSW	13	49071002	missense	probably damaging	1.00
R4945:Wnk2	UTSW	13	49057246	missense	probably damaging	1.00
R5182:Wnk2	UTSW	13	49061161	missense	possibly damaging	0.92
R5243:Wnk2	UTSW	13	49072578	missense	possibly damaging	0.51
R5370:Wnk2	UTSW	13	49102961	missense	probably damaging	1.00
R5771:Wnk2	UTSW	13	49102800	missense	probably damaging	1.00
R5877:Wnk2	UTSW	13	49067306	missense	probably damaging	0.98
R5900:Wnk2	UTSW	13	49102832	missense	probably damaging	1.00
R5905:Wnk2	UTSW	13	49076345	missense	probably damaging	0.99
R5912:Wnk2	UTSW	13	49060774	missense	probably damaging	1.00
R5915:Wnk2	UTSW	13	49078085	missense	probably damaging	0.99
R6028:Wnk2	UTSW	13	49076345	missense	probably damaging	0.99
R6074:Wnk2	UTSW	13	49051399	missense	probably damaging	1.00
R6171:Wnk2	UTSW	13	49060832	missense	probably damaging	1.00
R6368:Wnk2	UTSW	13	49061338	missense	probably damaging	0.99
R6467:Wnk2	UTSW	13	49146605	missense	probably damaging	1.00
R6501:Wnk2	UTSW	13	49146683	missense	probably damaging	1.00
R6849:Wnk2	UTSW	13	49067358	missense	probably damaging	1.00
R6898:Wnk2	UTSW	13	49071081	missense	probably damaging	1.00
R6949:Wnk2	UTSW	13	49101140	missense	probably damaging	1.00
R7011:Wnk2	UTSW	13	49071091	missense	probably damaging	0.99
R7097:Wnk2	UTSW	13	49102838	missense	possibly damaging	0.86
R7121:Wnk2	UTSW	13	49147177	missense	probably benign	0.26
R7123:Wnk2	UTSW	13	49081986	missense	possibly damaging	0.90
R7423:Wnk2	UTSW	13	49038132	missense	probably benign	0.07
R7502:Wnk2	UTSW	13	49147244	splice site	probably null
R7529:Wnk2	UTSW	13	49100981	missense	possibly damaging	0.50
R7751:Wnk2	UTSW	13	49078017	missense	unknown
R7979:Wnk2	UTSW	13	49095408	missense	probably damaging	1.00
R8118:Wnk2	UTSW	13	49090983	missense	probably damaging	0.99
R8121:Wnk2	UTSW	13	49060939	nonsense	probably null
R8155:Wnk2	UTSW	13	49039101	missense	unknown
R8329:Wnk2	UTSW	13	49095438	missense	probably damaging	1.00
R8334:Wnk2	UTSW	13	49050482	critical splice donor site	probably null
R8872:Wnk2	UTSW	13	49057484	missense	probably benign	0.00
R8919:Wnk2	UTSW	13	49068235	missense	possibly damaging	0.86
R9091:Wnk2	UTSW	13	49071029	missense	probably benign	0.41
R9234:Wnk2	UTSW	13	49070798	missense	probably damaging	0.99
R9262:Wnk2	UTSW	13	49067954	missense	probably benign	0.12
R9268:Wnk2	UTSW	13	49082031	missense	possibly damaging	0.82
R9270:Wnk2	UTSW	13	49071029	missense	probably benign	0.41
R9386:Wnk2	UTSW	13	49067346	missense	probably damaging	0.98
R9582:Wnk2	UTSW	13	49057499	missense	probably benign	0.01
R9617:Wnk2	UTSW	13	49038977	missense	unknown
R9625:Wnk2	UTSW	13	49100969	missense	probably benign	0.20
R9794:Wnk2	UTSW	13	49076198	missense	probably benign	0.02
RF023:Wnk2	UTSW	13	49146779	missense	probably benign	0.00
X0025:Wnk2	UTSW	13	49060942	missense	probably damaging	0.99
X0063:Wnk2	UTSW	13	49038977	missense	unknown
Z1176:Wnk2	UTSW	13	49038061	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTCAAACTTGAAGGTCACCATC -3'
(R):5'- ACTTAAAGCTCCAAGGCTGG -3'

Sequencing Primer
(F):5'- CAAACTTGAAGGTCACCATCTTATG -3'
(R):5'- ACTAGAGTGGGTTTTCTGGCAATCC -3'

Posted On

2016-03-17