Incidental Mutation 'R4659:Kcnj1'
ID 352687
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 041919-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4659 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32305444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 2 (D2V)
Ref Sequence ENSEMBL: ENSMUSP00000131625 (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
AA Change: D2V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: D2V

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213393
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,618,321 (GRCm39) probably null Het
Ankrd22 C T 19: 34,102,968 (GRCm39) V118I probably damaging Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arap2 T C 5: 62,811,469 (GRCm39) N1114S possibly damaging Het
AU021092 C G 16: 5,030,011 (GRCm39) A335P probably damaging Het
Carhsp1 T C 16: 8,482,129 (GRCm39) T51A probably benign Het
Cdc42bpb T C 12: 111,306,325 (GRCm39) D152G probably damaging Het
Cep70 T A 9: 99,178,394 (GRCm39) D497E possibly damaging Het
Chrm5 T C 2: 112,310,102 (GRCm39) N338S probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clhc1 T A 11: 29,528,229 (GRCm39) *586K probably null Het
Cplane1 G T 15: 8,245,760 (GRCm39) probably benign Het
Dop1a T A 9: 86,384,085 (GRCm39) probably benign Het
Dync1h1 T C 12: 110,595,201 (GRCm39) F1371S possibly damaging Het
Eif6 A G 2: 155,668,101 (GRCm39) I46T probably damaging Het
Esco2 G A 14: 66,064,035 (GRCm39) T383M possibly damaging Het
Exoc8 T C 8: 125,624,271 (GRCm39) D32G probably damaging Het
Fam149b G T 14: 20,417,941 (GRCm39) S216I probably benign Het
Fam219a T C 4: 41,521,645 (GRCm39) D87G probably null Het
Fbxw26 A T 9: 109,573,939 (GRCm39) V71D probably damaging Het
Gabra4 T A 5: 71,798,487 (GRCm39) K164M probably damaging Het
Gm57858 T C 3: 36,080,103 (GRCm39) D218G possibly damaging Het
Gm8603 G A 17: 13,737,290 (GRCm39) noncoding transcript Het
Gnmt A G 17: 47,036,892 (GRCm39) F239S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Limch1 C T 5: 67,184,900 (GRCm39) R797C probably damaging Het
Lrrc9 T A 12: 72,517,038 (GRCm39) F597I probably damaging Het
Lrriq3 T A 3: 154,835,090 (GRCm39) I275N possibly damaging Het
Mcoln1 T A 8: 3,560,840 (GRCm39) S387R probably damaging Het
Mgst3 T A 1: 167,204,848 (GRCm39) Q58L probably damaging Het
Mical1 G A 10: 41,362,932 (GRCm39) probably benign Het
Mmp3 C A 9: 7,453,673 (GRCm39) D431E probably benign Het
Mx1 T C 16: 97,256,439 (GRCm39) probably null Het
Myo7a A G 7: 97,734,673 (GRCm39) L607P probably damaging Het
Myt1l A G 12: 29,899,456 (GRCm39) N153D probably damaging Het
Nfu1 A T 6: 86,996,408 (GRCm39) T120S probably damaging Het
Nhlrc2 T C 19: 56,564,699 (GRCm39) V341A possibly damaging Het
Notch1 T C 2: 26,360,901 (GRCm39) E1148G probably damaging Het
Nqo1 C T 8: 108,117,676 (GRCm39) probably null Het
Nwd1 T A 8: 73,421,949 (GRCm39) D998E probably benign Het
Or8k18 G A 2: 86,085,357 (GRCm39) Q227* probably null Het
Oxct2a T C 4: 123,216,473 (GRCm39) I303V probably benign Het
Parp10 A T 15: 76,127,185 (GRCm39) D58E probably damaging Het
Pcdha6 T A 18: 37,102,292 (GRCm39) V495E probably damaging Het
Pitrm1 T A 13: 6,603,218 (GRCm39) S88R probably benign Het
Pxdn T C 12: 30,044,552 (GRCm39) V510A probably benign Het
Ranbp17 T A 11: 33,216,288 (GRCm39) D820V probably damaging Het
Sec24c G T 14: 20,733,212 (GRCm39) G180C probably damaging Het
Serpina3n T C 12: 104,379,752 (GRCm39) S382P probably benign Het
Sestd1 A T 2: 77,042,843 (GRCm39) M237K probably null Het
Sf3a2 T C 10: 80,639,418 (GRCm39) I136T probably damaging Het
Sh3tc2 A G 18: 62,107,580 (GRCm39) Y197C probably benign Het
Speer4b T C 5: 27,702,893 (GRCm39) K204E probably benign Het
Speer4f1 A C 5: 17,681,221 (GRCm39) E33A possibly damaging Het
Sspo T A 6: 48,461,147 (GRCm39) D3529E probably damaging Het
Stard13 T C 5: 150,986,253 (GRCm39) D419G probably benign Het
Tg A G 15: 66,545,769 (GRCm39) S164G possibly damaging Het
Thap12 A G 7: 98,359,298 (GRCm39) probably benign Het
Thsd1 C A 8: 22,749,314 (GRCm39) Y667* probably null Het
Tnks A C 8: 35,316,465 (GRCm39) Y885D possibly damaging Het
Ttll3 A G 6: 113,391,102 (GRCm39) I896V probably benign Het
Txnip T G 3: 96,466,743 (GRCm39) F190C probably damaging Het
Urb1 T C 16: 90,573,017 (GRCm39) D1005G probably damaging Het
Usp3 T C 9: 66,434,352 (GRCm39) probably null Het
Usp54 G T 14: 20,615,060 (GRCm39) Q794K probably damaging Het
Xrn2 A G 2: 146,903,394 (GRCm39) Q798R probably benign Het
Zfp189 A G 4: 49,530,342 (GRCm39) I482V probably benign Het
Zfp28 A G 7: 6,396,506 (GRCm39) N314D probably benign Het
Zmym4 A G 4: 126,842,221 (GRCm39) probably null 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
R4439:Kcnj1 UTSW 9 32,305,414 (GRCm39) intron 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 PCR Primer
(F):5'- CTGAGAACAACCACTTGTGTTGG -3'
(R):5'- GCCCTGCTAAAGTTTGCTTCAC -3'

Sequencing Primer
(F):5'- ACAACCACTTGTGTTGGTTTAAACC -3'
(R):5'- TTCTGTAAAGCGAAGGCATGTCC -3'
Posted On 2015-10-08