Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Wnk2'

191319

Institutional Source

Beutler Lab

Gene Symbol

Wnk2

Ensembl Gene

ENSMUSG00000037989

Gene Name

WNK lysine deficient protein kinase 2

Synonyms

ESTM15, X83337, 1810073P09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R1719 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

49036303-49148014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49060726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1460 (S1460N)

Ref Sequence

ENSEMBL: ENSMUSP00000105723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035538] [ENSMUST00000049265] [ENSMUST00000091623] [ENSMUST00000110096] [ENSMUST00000110097] [ENSMUST00000159196] [ENSMUST00000159559] [ENSMUST00000160087] [ENSMUST00000162403] [ENSMUST00000162581]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035538
AA Change: S1558N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047231
Gene: ENSMUSG00000037989
AA Change: S1558N

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 benign
Transcript: ENSMUST00000049265
AA Change: S1558N

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049327
Gene: ENSMUSG00000037989
AA Change: S1558N

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 benign
Transcript: ENSMUST00000091623
AA Change: S1558N

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000089212
Gene: ENSMUSG00000037989
AA Change: S1558N

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

possibly damaging
Transcript: ENSMUST00000110096
AA Change: S1460N

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105723
Gene: ENSMUSG00000037989
AA Change: S1460N

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: S1558N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105724
Gene: ENSMUSG00000037989
AA Change: S1558N

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 benign
Transcript: ENSMUST00000159196
AA Change: S53N

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124598
Gene: ENSMUSG00000037989
AA Change: S53N

Domain	Start	End	E-Value	Type
low complexity region	82	92	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	331	362	N/A	INTRINSIC
low complexity region	612	632	N/A	INTRINSIC
low complexity region	686	697	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159559
AA Change: S1546N

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123915
Gene: ENSMUSG00000037989
AA Change: S1546N

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: ENSMUST00000159633

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160087
AA Change: S700N

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124614
Gene: ENSMUSG00000037989
AA Change: S700N

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 benign
Transcript: ENSMUST00000162403
AA Change: S1448N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125539
Gene: ENSMUSG00000037989
AA Change: S1448N

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: S1558N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125448
Gene: ENSMUSG00000037989
AA Change: S1558N

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,248,206	M459K	probably damaging	Het
A1cf	A	T	19: 31,927,126	K263M	probably damaging	Het
Adam26a	G	A	8: 43,570,036	T139M	possibly damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap9	C	T	5: 3,957,645	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,324,604	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cblc	A	T	7: 19,790,474	D280E	probably benign	Het
Cdk11b	T	C	4: 155,648,397		probably benign	Het
Cela2a	G	T	4: 141,817,946	F239L	probably damaging	Het
Cfap57	A	T	4: 118,606,631	C342S	probably benign	Het
Clca4a	C	A	3: 144,963,755	W345L	probably damaging	Het
Col6a5	T	C	9: 105,931,293	D852G	unknown	Het
Cyp4a32	T	C	4: 115,611,308	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,175,495	P287S	probably damaging	Het
Dmxl1	T	A	18: 49,934,637	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,200,747	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,643,936	Y56*	probably null	Het
Duox1	T	C	2: 122,338,644	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 184,037,225	S129R	probably benign	Het
Epcam	G	A	17: 87,642,128	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,220,650	E384G	probably damaging	Het
Exosc10	A	T	4: 148,568,503	D525V	probably damaging	Het
Fam186a	T	A	15: 99,942,346	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 109,148,174	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,457,397	E568G	probably damaging	Het
Fmn2	C	T	1: 174,608,458		probably benign	Het
Fut9	A	G	4: 25,619,744	F357L	possibly damaging	Het
Gas2l1	G	A	11: 5,064,266	H65Y	probably damaging	Het
Gjd2	A	T	2: 114,013,133	M1K	probably null	Het
Gm12169	T	C	11: 46,526,294	L13P	probably damaging	Het
Gm884	T	A	11: 103,617,071		probably benign	Het
Hdgfl3	T	C	7: 81,899,684	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,354,721	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,398,799	S223C	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Knl1	T	A	2: 119,071,738	W1307R	probably benign	Het
Kpna3	A	G	14: 61,387,477	L139P	probably damaging	Het
Lama3	T	C	18: 12,479,872		probably null	Het
Lin54	G	A	5: 100,485,249	P192L	possibly damaging	Het
Lpo	T	A	11: 87,809,192		probably null	Het
Lrrd1	T	G	5: 3,850,483		probably null	Het
Nbas	T	A	12: 13,560,977		probably null	Het
Nemp1	G	A	10: 127,696,248	G341D	probably damaging	Het
Nrp1	T	C	8: 128,425,885	F192L	probably damaging	Het
Nufip2	T	A	11: 77,693,090	V610E	probably damaging	Het
Nup160	T	G	2: 90,700,436	Y479*	probably null	Het
Oas1d	A	T	5: 120,919,962	D323V	possibly damaging	Het
Olfr125	A	G	17: 37,835,353	D118G	possibly damaging	Het
Olfr1338	A	G	4: 118,753,600	W315R	possibly damaging	Het
Olfr140	T	C	2: 90,051,784	Y180C	probably damaging	Het
Olfr147	G	A	9: 38,403,254	V127M	possibly damaging	Het
Olfr204	T	A	16: 59,314,706	R234*	probably null	Het
Olfr25	A	T	9: 38,330,507	T307S	probably benign	Het
Olfr677	C	A	7: 105,056,794	H183N	probably damaging	Het
Pcm1	T	A	8: 41,313,359	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,443,896	V215A	probably benign	Het
Phf12	T	A	11: 78,023,601	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,753,743	E537G	probably null	Het
Plxna2	C	T	1: 194,644,370	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,524,063	M236L	probably benign	Het
Qrsl1	A	T	10: 43,896,030	S55T	probably damaging	Het
Rbm5	T	C	9: 107,743,913		probably null	Het
Sipa1l2	A	G	8: 125,444,535	S1403P	probably damaging	Het
Sis	C	T	3: 72,965,604	C67Y	probably damaging	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Sprtn	C	A	8: 124,901,633	H154Q	probably damaging	Het
St7l	A	G	3: 104,870,987	T147A	probably benign	Het
Stab1	G	A	14: 31,146,028	Q1630*	probably null	Het
Stpg2	A	G	3: 139,232,199	D173G	probably benign	Het
Tcf20	G	A	15: 82,852,777	T1491I	probably benign	Het
Themis2	A	T	4: 132,789,649	I180N	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	C	T	2: 76,745,634	V24972M	probably damaging	Het
Ttn	A	G	2: 76,807,996	V13980A	probably damaging	Het
Usp5	A	T	6: 124,823,460	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,637,843	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,621,227	C534G	probably damaging	Het
Wdr60	T	C	12: 116,255,912	I137V	probably benign	Het
Zfp445	G	A	9: 122,852,642	P745S	probably damaging	Het
Zfp957	C	T	14: 79,213,996	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,401,327	E220G	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
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
R4887:Wnk2	UTSW	13	49071002	missense	probably damaging	1.00
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'- GGGGCCGTTTCAGACTTTTCCAAC -3'
(R):5'- TGAGAAACTGCGGACTCTGCTCTAC -3'

Sequencing Primer
(F):5'- GATCTGTTACCTCTATGACTGGAAC -3'
(R):5'- TCTGCTCTACCAGGAGCAC -3'

Posted On

2014-05-14