Incidental Mutation 'IGL02958:Kcnj1'
ID 365216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj1
Ensembl Gene ENSMUSG00000041248
Gene Name potassium inwardly-rectifying channel, subfamily J, member 1
Synonyms ROMK-2, Kir1.1, ROMK
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02958
Quality Score
Status
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32307851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 72 (S72G)
Ref Sequence ENSEMBL: ENSMUSP00000150540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047334] [ENSMUST00000172015] [ENSMUST00000213393]
AlphaFold O88335
Predicted Effect probably damaging
Transcript: ENSMUST00000047334
AA Change: S72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: S72G

DomainStartEndE-ValueType
Pfam:IRK 24 361 1.4e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172015
AA Change: S92G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: S92G

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213393
AA Change: S72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,829,098 (GRCm39) V755L probably benign Het
Abhd15 T C 11: 77,406,791 (GRCm39) V256A possibly damaging Het
Agtr1b A T 3: 20,370,258 (GRCm39) V116E possibly damaging Het
Ahi1 A T 10: 20,839,698 (GRCm39) D203V probably damaging Het
Aplp2 G T 9: 31,075,972 (GRCm39) probably benign Het
Arid4a T C 12: 71,144,337 (GRCm39) S1249P probably benign Het
Asz1 T A 6: 18,073,813 (GRCm39) K298M possibly damaging Het
C4bp A G 1: 130,564,532 (GRCm39) I384T probably damaging Het
Cacna1e C A 1: 154,341,487 (GRCm39) A1236S probably damaging Het
Cdh13 T C 8: 120,039,460 (GRCm39) I634T possibly damaging Het
Cemip A T 7: 83,624,263 (GRCm39) F524L probably damaging Het
Dnah7c G A 1: 46,696,271 (GRCm39) R2051H probably damaging Het
Dnajc17 T C 2: 119,016,243 (GRCm39) K77E probably benign Het
Efhc2 C T X: 17,027,485 (GRCm39) probably benign Het
Ergic2 A T 6: 148,083,441 (GRCm39) *50K probably null Het
Fam83g C T 11: 61,598,548 (GRCm39) P812S probably damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Itih3 T C 14: 30,635,139 (GRCm39) T73A probably benign Het
Kcnn4 T C 7: 24,074,170 (GRCm39) V78A probably benign Het
Lrp1b T A 2: 41,192,928 (GRCm39) D1353V probably damaging Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mplkipl1 G T 19: 61,164,118 (GRCm39) Q106K possibly damaging Het
Ndufs8 T C 19: 3,961,232 (GRCm39) E45G probably benign Het
Nell1 G A 7: 49,870,085 (GRCm39) probably null Het
Nxt1 A G 2: 148,517,692 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,127 (GRCm39) Y256C probably benign Het
Or5al5 T A 2: 85,961,351 (GRCm39) I219F probably benign Het
Pdzd8 A T 19: 59,288,804 (GRCm39) C865* probably null Het
Pop1 G T 15: 34,530,509 (GRCm39) C969F probably damaging Het
Rc3h2 A C 2: 37,304,712 (GRCm39) I16S probably damaging Het
Shank1 T C 7: 44,003,897 (GRCm39) V1863A possibly damaging Het
Slc15a4 A T 5: 127,681,729 (GRCm39) L296Q possibly damaging Het
Spmip1 G A 6: 29,471,625 (GRCm39) G34R probably damaging Het
Ssr4 T C X: 72,830,856 (GRCm39) probably benign Het
Supt20 T A 3: 54,621,144 (GRCm39) probably benign Het
Ttc8 A T 12: 98,930,803 (GRCm39) K282N probably benign Het
Usp40 A T 1: 87,906,207 (GRCm39) V676E probably damaging Het
Vmn1r43 T C 6: 89,847,031 (GRCm39) I152V probably benign Het
Vmn2r61 A T 7: 41,949,361 (GRCm39) I594F probably benign Het
Vps53 A C 11: 76,008,537 (GRCm39) I261S probably damaging Het
Wdr19 T A 5: 65,370,150 (GRCm39) probably null Het
Zc3hav1 T A 6: 38,309,919 (GRCm39) D301V probably damaging Het
Other mutations in Kcnj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Kcnj1 APN 9 32,307,794 (GRCm39) missense probably benign 0.01
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
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
Posted On 2015-12-18