Incidental Mutation 'R3436:Wnk3'
ID475672
Institutional Source Beutler Lab
Gene Symbol Wnk3
Ensembl Gene ENSMUSG00000041245
Gene NameWNK lysine deficient protein kinase 3
SynonymsPrkwnk3
MMRRC Submission 040654-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R3436 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location151198078-151320152 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 151286304 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 886 (F886I)
Ref Sequence ENSEMBL: ENSMUSP00000138822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096285] [ENSMUST00000149140] [ENSMUST00000184392] [ENSMUST00000184730]
Predicted Effect probably benign
Transcript: ENSMUST00000096285
AA Change: F918I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138839
Gene: ENSMUSG00000041245
AA Change: F918I

DomainStartEndE-ValueType
low complexity region 121 136 N/A INTRINSIC
S_TKc 146 404 4.88e-68 SMART
Pfam:OSR1_C 425 462 7.9e-23 PFAM
low complexity region 518 531 N/A INTRINSIC
internal_repeat_1 765 806 2.88e-5 PROSPERO
low complexity region 1511 1532 N/A INTRINSIC
coiled coil region 1535 1579 N/A INTRINSIC
low complexity region 1580 1600 N/A INTRINSIC
low complexity region 1656 1670 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149140
SMART Domains Protein: ENSMUSP00000139255
Gene: ENSMUSG00000041245

DomainStartEndE-ValueType
low complexity region 121 136 N/A INTRINSIC
S_TKc 146 404 4.88e-68 SMART
Pfam:OSR1_C 425 462 2.3e-23 PFAM
low complexity region 518 531 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184392
AA Change: F886I

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139037
Gene: ENSMUSG00000041245
AA Change: F886I

DomainStartEndE-ValueType
low complexity region 121 136 N/A INTRINSIC
S_TKc 146 404 4.88e-68 SMART
Pfam:OSR1_C 425 462 7.8e-23 PFAM
low complexity region 518 531 N/A INTRINSIC
internal_repeat_1 733 774 2.87e-5 PROSPERO
low complexity region 1479 1500 N/A INTRINSIC
coiled coil region 1503 1547 N/A INTRINSIC
low complexity region 1548 1568 N/A INTRINSIC
low complexity region 1624 1638 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184730
AA Change: F886I

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138822
Gene: ENSMUSG00000041245
AA Change: F886I

DomainStartEndE-ValueType
low complexity region 121 136 N/A INTRINSIC
S_TKc 146 404 4.88e-68 SMART
Pfam:OSR1_C 425 462 7.5e-23 PFAM
low complexity region 518 531 N/A INTRINSIC
internal_repeat_1 733 774 2.72e-5 PROSPERO
low complexity region 1432 1453 N/A INTRINSIC
coiled coil region 1456 1500 N/A INTRINSIC
low complexity region 1501 1521 N/A INTRINSIC
low complexity region 1577 1591 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lower blood pressure when fed a low-salt diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambp T C 4: 63,149,484 E163G probably benign Het
Angptl3 A T 4: 99,033,303 K219N probably benign Het
Atp6v1g1 A G 4: 63,550,018 N86S probably benign Het
Cadps A T 14: 12,616,158 probably null Het
Ccdc146 A G 5: 21,297,005 S804P possibly damaging Het
Cdc20b T C 13: 113,078,699 I267T probably damaging Het
Cdh8 A G 8: 99,400,718 probably benign Het
Dse G T 10: 34,152,474 N873K probably benign Het
Ehd1 G T 19: 6,277,014 E14* probably null Het
F8 A G X: 75,267,424 probably benign Het
Flnb T C 14: 7,942,057 V2345A probably damaging Het
Fndc1 T C 17: 7,750,357 K1559E probably damaging Het
Ighg1 T C 12: 113,329,560 E170G probably damaging Het
Kmt2b G T 7: 30,576,692 P1794Q probably damaging Het
Lama2 C T 10: 27,001,235 E2652K probably benign Het
Med25 C A 7: 44,885,890 R37L possibly damaging Het
Olfr1189 T A 2: 88,592,104 F100Y probably damaging Het
Olfr136 A G 17: 38,335,432 I92V probably damaging Het
Olfr138 G A 17: 38,275,530 G253D probably damaging Het
Optc T C 1: 133,897,879 D303G probably damaging Het
Pkd1l2 T C 8: 117,040,739 N1271D probably benign Het
Plpp2 A T 10: 79,527,813 probably null Het
Polq A T 16: 37,062,337 N1342I probably damaging Het
Prr16 A G 18: 51,303,123 N225D probably benign Het
Pwwp2a C T 11: 43,706,188 Q452* probably null Het
Slfn2 A T 11: 83,069,564 H123L probably benign Het
Sort1 T A 3: 108,337,807 I325N probably damaging Het
Tmem132e A G 11: 82,444,330 Y654C probably damaging Het
Tmprss11b A T 5: 86,667,584 Y48* probably null Het
Tpp2 T C 1: 43,940,144 I67T probably damaging Het
Trdn G A 10: 33,468,195 probably null Het
Trim14 C T 4: 46,523,739 V100I possibly damaging Het
Trim17 T C 11: 58,965,233 C39R probably damaging Het
Trim52 C T 14: 106,107,307 P133L possibly damaging Het
Unc13b T C 4: 43,097,028 probably benign Het
Vmn2r94 G A 17: 18,258,388 probably benign Het
Vsig4 A G X: 96,290,816 V29A probably benign Het
Washc4 T A 10: 83,570,002 I454N probably benign Het
Ylpm1 T C 12: 85,049,870 probably null Het
Zfp507 A T 7: 35,787,770 Y234N probably damaging Het
Other mutations in Wnk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Wnk3 APN X 151233029 missense probably damaging 1.00
IGL03033:Wnk3 APN X 151276928 missense probably damaging 1.00
R4407:Wnk3 UTSW X 151233213 missense probably benign 0.04
R4789:Wnk3 UTSW X 151210937 nonsense probably null
U24488:Wnk3 UTSW X 151209460 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-11