Mutagenetix > Incidental Mutations

Incidental Mutation 'R1468:Wnk2'

197750

Institutional Source

Beutler Lab

Gene Symbol

Wnk2

Ensembl Gene

ENSMUSG00000037989

Gene Name

WNK lysine deficient protein kinase 2

Synonyms

ESTM15, X83337, 1810073P09Rik

MMRRC Submission

039521-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49036303-49148014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49082095 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 615 (T615S)

Ref Sequence

ENSEMBL: ENSMUSP00000049327 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035538
AA Change: T615S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047231
Gene: ENSMUSG00000037989
AA Change: T615S

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: T615S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049327
Gene: ENSMUSG00000037989
AA Change: T615S

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: T615S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089212
Gene: ENSMUSG00000037989
AA Change: T615S

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: T615S

SMART Domains

Protein: ENSMUSP00000105723
Gene: ENSMUSG00000037989
AA Change: T615S

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: T615S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105724
Gene: ENSMUSG00000037989
AA Change: T615S

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: T615S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123915
Gene: ENSMUSG00000037989
AA Change: T615S

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: ENSMUST00000160087

SMART Domains

Protein: ENSMUSP00000124614
Gene: ENSMUSG00000037989

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: T615S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125539
Gene: ENSMUSG00000037989
AA Change: T615S

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: T615S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125448
Gene: ENSMUSG00000037989
AA Change: T615S

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

0.0912

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776		probably null	Het
Adamts7	T	C	9: 90,188,798		probably benign	Het
Adgrf3	G	A	5: 30,202,229		probably benign	Het
Aldh6a1	T	C	12: 84,441,770	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272	M253V	probably benign	Het
Braf	T	C	6: 39,665,083	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962	P716T	probably benign	Het
C7	T	A	15: 5,012,149	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963		probably null	Het
Chgb	A	T	2: 132,792,800	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288		probably null	Het
Clec12b	A	T	6: 129,380,640	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409		probably benign	Het
Cyp2c55	T	A	19: 39,011,081	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740		probably benign	Het
Dlg1	A	G	16: 31,842,822		probably null	Het
Dnah5	C	A	15: 28,230,463	S169*	probably null	Het
Dock4	C	A	12: 40,755,810	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526		probably benign	Het
Fancm	A	T	12: 65,099,293	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226		probably benign	Het
Fat1	G	A	8: 45,010,545	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673		probably benign	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231		probably benign	Het
Gpd2	A	C	2: 57,355,774	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412		probably null	Het
Irx4	G	T	13: 73,265,576	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901		probably benign	Het
Lama3	T	C	18: 12,441,107	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829		probably null	Het
Lrp5	T	C	19: 3,620,191	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483		probably null	Het
Mfsd2b	T	A	12: 4,870,536	K94*	probably null	Het
Micall2	A	G	5: 139,719,342	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982		probably null	Het
Oas1g	G	A	5: 120,882,006	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388		probably null	Het
Olfr646	G	T	7: 104,106,689	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593		probably benign	Het
Ptprg	A	T	14: 12,190,767	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572		probably benign	Het
Sf3b3	A	T	8: 110,837,374	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627		probably null	Het
Shkbp1	A	T	7: 27,345,326	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561		probably null	Het
Ttc6	A	G	12: 57,674,677	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112		probably benign	Het
Vmn1r223	A	G	13: 23,249,868	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053	V856D	probably 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
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
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
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	probably benign	0.00
Z1176:Wnk2	UTSW	13	49038061	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACCATCCTTAGCACAGCCTAGAC -3'
(R):5'- GGCATCAGAGCCTATTGGGATCAC -3'

Sequencing Primer
(F):5'- ACAGGGTGGCTCTCAACTTAC -3'
(R):5'- CCTATTGGGATCACAGGCGTG -3'

Posted On

2014-05-23