Incidental Mutation 'R4439:Kcnj1'
ID 329682
Institutional Source Beutler Lab
Gene Symbol Kcnj1
Ensembl Gene ENSMUSG00000041248
Gene Name potassium inwardly-rectifying channel, subfamily J, member 1
Synonyms ROMK-2, Kir1.1, ROMK
MMRRC Submission 041704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4439 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 32305414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047334] [ENSMUST00000172015] [ENSMUST00000213393]
AlphaFold O88335
Predicted Effect probably benign
Transcript: ENSMUST00000047334
SMART Domains Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248

DomainStartEndE-ValueType
Pfam:IRK 24 361 1.4e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172015
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213393
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 94% (50/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null mutation die before weaning with impaired electrolyte, acid-base, and fluid-volume homeostasis, reduced NaCl absorption in the thick ascending limb, and abnormal tubuloglomerular feedback. A colony of mutants with extended suvival serves as a model for Bartter's syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,384,557 (GRCm39) T2237I possibly damaging Het
Adgre1 T A 17: 57,754,954 (GRCm39) L684Q probably damaging Het
Cfap157 T A 2: 32,667,877 (GRCm39) Y488F probably benign Het
D630045J12Rik A G 6: 38,171,696 (GRCm39) I824T probably benign Het
Eno2 T C 6: 124,739,922 (GRCm39) probably benign Het
Fam78b C A 1: 166,906,491 (GRCm39) Q217K probably damaging Het
Fpgs C T 2: 32,577,513 (GRCm39) C219Y probably damaging Het
Garem2 G T 5: 30,318,344 (GRCm39) V106L possibly damaging Het
Grk3 A T 5: 113,094,543 (GRCm39) probably null Het
H3c2 A T 13: 23,936,708 (GRCm39) probably null Het
Hint2 T A 4: 43,654,919 (GRCm39) Y70F probably damaging Het
Ipp A G 4: 116,372,274 (GRCm39) N101S probably benign Het
Kcnk4 T C 19: 6,910,129 (GRCm39) D44G probably benign Het
Kif5c T C 2: 49,578,737 (GRCm39) S122P possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Nipbl T A 15: 8,368,208 (GRCm39) K1171N probably damaging Het
Or4k39 T A 2: 111,239,653 (GRCm39) noncoding transcript Het
Pcf11 A C 7: 92,307,225 (GRCm39) L981R probably damaging Het
Pias2 T A 18: 77,185,399 (GRCm39) L153H probably damaging Het
Pjvk T C 2: 76,481,750 (GRCm39) S68P probably damaging Het
Pkd1 T C 17: 24,804,666 (GRCm39) V3130A probably damaging Het
Plpp4 C A 7: 128,858,813 (GRCm39) probably benign Het
Plxnd1 T A 6: 115,970,937 (GRCm39) H277L probably damaging Het
Pramel26 A T 4: 143,538,143 (GRCm39) V276E possibly damaging Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Rd3l C A 12: 111,946,092 (GRCm39) S63I possibly damaging Het
Scfd2 G C 5: 74,558,368 (GRCm39) A503G possibly damaging Het
Slco4a1 T C 2: 180,114,455 (GRCm39) V549A probably benign Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Tnn T G 1: 159,943,650 (GRCm39) E1054D probably benign Het
Tnrc6a A T 7: 122,751,405 (GRCm39) K54* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpr T A 1: 150,279,712 (GRCm39) D206E probably benign Het
Ugt2b34 A T 5: 87,040,726 (GRCm39) F399I probably damaging Het
Usp3 A T 9: 66,425,776 (GRCm39) D456E probably benign Het
Vmn1r60 T A 7: 5,547,488 (GRCm39) H204L probably damaging Het
Vmn2r97 G T 17: 19,150,616 (GRCm39) A488S probably benign Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wdr86 T C 5: 24,935,235 (GRCm39) D36G probably damaging Het
Zc3h4 C T 7: 16,163,036 (GRCm39) P479S unknown Het
Zfhx4 A T 3: 5,279,875 (GRCm39) probably benign Het
Zfp607b T A 7: 27,402,149 (GRCm39) C202S probably damaging Het
Zfp882 T A 8: 72,667,453 (GRCm39) F93L probably damaging Het
Other mutations in Kcnj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Kcnj1 APN 9 32,307,794 (GRCm39) missense probably benign 0.01
IGL02958:Kcnj1 APN 9 32,307,851 (GRCm39) missense probably damaging 1.00
IGL03285:Kcnj1 APN 9 32,308,157 (GRCm39) missense possibly damaging 0.67
R1179:Kcnj1 UTSW 9 32,308,062 (GRCm39) missense probably damaging 0.96
R1503:Kcnj1 UTSW 9 32,307,788 (GRCm39) missense probably damaging 0.98
R1918:Kcnj1 UTSW 9 32,308,034 (GRCm39) missense probably benign 0.00
R4659:Kcnj1 UTSW 9 32,305,444 (GRCm39) missense probably benign
R4661:Kcnj1 UTSW 9 32,307,918 (GRCm39) missense probably benign 0.14
R4917:Kcnj1 UTSW 9 32,308,056 (GRCm39) missense probably damaging 0.99
R4918:Kcnj1 UTSW 9 32,308,056 (GRCm39) missense probably damaging 0.99
R5385:Kcnj1 UTSW 9 32,308,019 (GRCm39) missense probably damaging 1.00
R6017:Kcnj1 UTSW 9 32,305,400 (GRCm39) intron probably benign
R6036:Kcnj1 UTSW 9 32,308,421 (GRCm39) missense probably benign 0.15
R6036:Kcnj1 UTSW 9 32,308,421 (GRCm39) missense probably benign 0.15
R6117:Kcnj1 UTSW 9 32,308,478 (GRCm39) missense probably damaging 1.00
R6245:Kcnj1 UTSW 9 32,308,163 (GRCm39) missense probably damaging 1.00
R6316:Kcnj1 UTSW 9 32,308,632 (GRCm39) missense probably damaging 0.96
R6585:Kcnj1 UTSW 9 32,308,557 (GRCm39) missense probably benign
R6988:Kcnj1 UTSW 9 32,307,881 (GRCm39) missense probably benign 0.17
R7116:Kcnj1 UTSW 9 32,308,277 (GRCm39) missense possibly damaging 0.91
R7393:Kcnj1 UTSW 9 32,308,314 (GRCm39) missense probably damaging 1.00
R7870:Kcnj1 UTSW 9 32,307,881 (GRCm39) missense probably benign 0.17
R8072:Kcnj1 UTSW 9 32,308,593 (GRCm39) missense probably damaging 1.00
R8391:Kcnj1 UTSW 9 32,308,028 (GRCm39) missense probably damaging 1.00
R9264:Kcnj1 UTSW 9 32,307,654 (GRCm39) missense probably benign 0.03
R9418:Kcnj1 UTSW 9 32,308,203 (GRCm39) missense probably damaging 1.00
Z1177:Kcnj1 UTSW 9 32,308,655 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-07-21