Incidental Mutation 'R4918:Kcnj1'
ID 378414
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 042520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4918 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32308056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 160 (L160Q)
Ref Sequence ENSEMBL: ENSMUSP00000131625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047334] [ENSMUST00000172015] [ENSMUST00000213393]
AlphaFold O88335
Predicted Effect probably damaging
Transcript: ENSMUST00000047334
AA Change: L140Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: L140Q

DomainStartEndE-ValueType
Pfam:IRK 24 361 1.4e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172015
AA Change: L160Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: L160Q

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213393
AA Change: L140Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.8580 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (116/117)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,071,377 (GRCm39) I1492F probably damaging Het
Ago4 A C 4: 126,400,635 (GRCm39) C693G probably damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arfgef3 T A 10: 18,492,638 (GRCm39) I1258F probably damaging Het
Arhgef40 A G 14: 52,227,556 (GRCm39) E434G probably damaging Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A T 13: 100,191,713 (GRCm39) V1422E probably damaging Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bnip1 C T 17: 27,002,525 (GRCm39) probably benign Het
Bnip5 T G 17: 29,127,337 (GRCm39) Q224P probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Casp8 T C 1: 58,866,377 (GRCm39) F126S probably damaging Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cntnap2 T C 6: 46,506,969 (GRCm39) probably benign Het
Col9a1 T C 1: 24,276,339 (GRCm39) I749T possibly damaging Het
Ddx50 A T 10: 62,463,450 (GRCm39) C414* probably null Het
Defb42 A G 14: 63,285,790 (GRCm39) I57V probably benign Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Dhx40 G T 11: 86,695,217 (GRCm39) H98N possibly damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dpysl5 T G 5: 30,949,612 (GRCm39) F461V probably damaging Het
Efcab11 T C 12: 99,685,321 (GRCm39) D151G probably damaging Het
Egfem1 T C 3: 29,206,042 (GRCm39) V93A probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Esyt2 T C 12: 116,287,760 (GRCm39) V226A probably benign Het
Fan1 A T 7: 64,023,286 (GRCm39) probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Fsip2 G A 2: 82,824,114 (GRCm39) V6616I possibly damaging Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gm10764 A G 10: 87,126,579 (GRCm39) noncoding transcript Het
Gm6788 C T 19: 28,740,664 (GRCm39) noncoding transcript Het
Gm8122 T C 14: 43,091,573 (GRCm39) N65S unknown Het
Golga4 C A 9: 118,387,213 (GRCm39) S1445Y probably damaging Het
Gsdmd A G 15: 75,736,241 (GRCm39) I123M probably benign Het
Hsf4 A G 8: 105,999,367 (GRCm39) E235G probably benign Het
Ifi206 T A 1: 173,309,610 (GRCm39) T129S possibly damaging Het
Jakmip1 G A 5: 37,248,619 (GRCm39) R93Q probably damaging Het
Kif1a T A 1: 93,002,700 (GRCm39) E233V probably benign Het
Krt5 A T 15: 101,618,742 (GRCm39) Y340N probably damaging Het
Krt90 T A 15: 101,470,914 (GRCm39) H116L possibly damaging Het
Large2 A G 2: 92,196,452 (GRCm39) probably benign Het
Marchf4 T G 1: 72,467,938 (GRCm39) S365R probably benign Het
Mei4 A G 9: 81,772,216 (GRCm39) T10A probably benign Het
Meis1 T C 11: 18,959,222 (GRCm39) probably benign Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mrps28 A G 3: 8,947,614 (GRCm39) probably benign Het
Ncdn G A 4: 126,643,731 (GRCm39) L364F possibly damaging Het
Nckap1l A G 15: 103,392,040 (GRCm39) N825S probably benign Het
Nfat5 T A 8: 108,051,284 (GRCm39) D47E probably damaging Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nsf G A 11: 103,801,185 (GRCm39) probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or1n1b A G 2: 36,780,344 (GRCm39) I172T probably damaging Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or51g2 A T 7: 102,622,614 (GRCm39) I195N possibly damaging Het
Or5ak20 C T 2: 85,183,632 (GRCm39) V213I probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Or5bw2 C T 7: 6,573,643 (GRCm39) L218F possibly damaging Het
Or9g10 T C 2: 85,584,465 (GRCm39) probably benign Het
Pcdh20 A C 14: 88,705,104 (GRCm39) L732R probably damaging Het
Pgbd5 C A 8: 125,097,305 (GRCm39) K408N probably benign Het
Pip4k2c T C 10: 127,035,196 (GRCm39) T391A possibly damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Prpf18 T C 2: 4,641,981 (GRCm39) D186G probably benign Het
Rab3gap1 T A 1: 127,816,914 (GRCm39) W58R possibly damaging Het
Rbp3 T C 14: 33,677,368 (GRCm39) Y439H probably damaging Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rsf1 T C 7: 97,311,612 (GRCm39) S781P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A G 13: 11,609,872 (GRCm39) V753A probably damaging Het
Schip1 A T 3: 68,315,818 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Sh3rf3 A T 10: 58,842,925 (GRCm39) D297V probably damaging Het
Slc20a2 C T 8: 23,051,020 (GRCm39) S351L probably damaging Het
Slc35e2 C A 4: 155,700,693 (GRCm39) P272Q probably damaging Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Sulf1 A G 1: 12,888,720 (GRCm39) D335G probably damaging Het
Tchhl1 A G 3: 93,377,623 (GRCm39) D109G possibly damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Thsd7a A C 6: 12,327,558 (GRCm39) I1438S probably damaging Het
Tm4sf1 C T 3: 57,200,448 (GRCm39) G85S probably damaging Het
Tmem63a T A 1: 180,794,086 (GRCm39) I541N probably benign Het
Trav6d-4 T C 14: 52,991,240 (GRCm39) F95S probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn T C 2: 76,589,598 (GRCm39) T21219A probably damaging Het
Unc80 T C 1: 66,685,709 (GRCm39) Y2278H possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r69 T A 7: 85,055,967 (GRCm39) M724L probably benign Het
Zeb2 A G 2: 44,886,894 (GRCm39) I706T probably damaging Het
Zfp512 T C 5: 31,634,209 (GRCm39) S407P probably damaging Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign 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
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
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'- TCCTGTGGTATGTCGTAGCC -3'
(R):5'- GAAGCTTACCATATATGTGACTGCC -3'

Sequencing Primer
(F):5'- CCTATGTTCATAAGGATCTCCCAGAG -3'
(R):5'- GCCAATCAGAAGGCTTTTCCTAAG -3'
Posted On 2016-04-15