Incidental Mutation 'R7116:Kcnj1'
ID 551781
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 045207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R7116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32308277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 234 (T234A)
Ref Sequence ENSEMBL: ENSMUSP00000131625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047334] [ENSMUST00000172015] [ENSMUST00000213393]
AlphaFold O88335
Predicted Effect possibly damaging
Transcript: ENSMUST00000047334
AA Change: T214A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: T214A

DomainStartEndE-ValueType
Pfam:IRK 24 361 1.4e-155 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172015
AA Change: T234A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: T234A

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213393
AA Change: T214A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,251,751 (GRCm39) S109P probably damaging Het
Afg3l1 T G 8: 124,216,601 (GRCm39) L280R probably damaging Het
Akap13 T A 7: 75,369,943 (GRCm39) S129T probably benign Het
Ankrd11 A G 8: 123,622,869 (GRCm39) S328P probably damaging Het
Aox3 A T 1: 58,192,689 (GRCm39) E554D probably benign Het
Bcl11a T C 11: 24,113,839 (GRCm39) V394A probably damaging Het
Cass4 A G 2: 172,269,889 (GRCm39) Y657C unknown Het
Ccdc88a C T 11: 29,454,051 (GRCm39) A1738V probably benign Het
Cfap74 T C 4: 155,539,518 (GRCm39) F948L unknown Het
Chgb A T 2: 132,623,237 (GRCm39) probably benign Het
Coro1c C T 5: 113,990,267 (GRCm39) W138* probably null Het
Dgkb A G 12: 38,031,989 (GRCm39) Q17R probably benign Het
Esco2 A G 14: 66,064,006 (GRCm39) Y393H probably damaging Het
Eya3 T A 4: 132,422,110 (GRCm39) D228E probably benign Het
Fat2 T C 11: 55,173,162 (GRCm39) D2517G probably damaging Het
Fry T A 5: 150,319,334 (GRCm39) probably null Het
Gal3st2b A T 1: 93,868,498 (GRCm39) Q243L possibly damaging Het
Gimap9 C T 6: 48,654,989 (GRCm39) A192V probably benign Het
Glg1 T A 8: 111,905,589 (GRCm39) Q564L probably benign Het
H2-Aa A T 17: 34,502,601 (GRCm39) Y188* probably null Het
Hira T C 16: 18,730,864 (GRCm39) Y188H probably damaging Het
Ighv8-8 C T 12: 115,257,814 (GRCm39) D76N probably benign Het
Irf6 T C 1: 192,849,905 (GRCm39) F276L probably damaging Het
Itpr1 T C 6: 108,458,229 (GRCm39) C2000R probably damaging Het
Jakmip3 T C 7: 138,621,979 (GRCm39) V293A possibly damaging Het
Kcnh7 A G 2: 62,707,614 (GRCm39) V132A probably benign Het
Kpna3 T A 14: 61,605,635 (GRCm39) N470I probably benign Het
Lamb2 T C 9: 108,364,522 (GRCm39) F1121L probably damaging Het
Lingo1 T C 9: 56,527,911 (GRCm39) D232G probably benign Het
Lpxn T A 19: 12,788,622 (GRCm39) N70K probably benign Het
Ltbp4 T A 7: 27,004,852 (GRCm39) H1657L probably damaging Het
Luzp2 C A 7: 54,915,078 (GRCm39) F334L possibly damaging Het
Mgat5b A T 11: 116,835,785 (GRCm39) S142C possibly damaging Het
Mroh7 G A 4: 106,568,517 (GRCm39) T396I probably benign Het
Muc5b T C 7: 141,417,487 (GRCm39) S3478P probably benign Het
Nfatc2 A T 2: 168,349,269 (GRCm39) M626K probably benign Het
Nlrp14 A G 7: 106,782,255 (GRCm39) D484G possibly damaging Het
Npc1 T C 18: 12,344,601 (GRCm39) Y423C probably damaging Het
Nrsn1 A G 13: 25,437,388 (GRCm39) I180T probably damaging Het
Or11g25 A T 14: 50,723,025 (GRCm39) I37F probably benign Het
Or51a8 T A 7: 102,549,842 (GRCm39) N89K probably benign Het
Osbpl6 A T 2: 76,426,225 (GRCm39) I935F probably benign Het
Otog T C 7: 45,947,689 (GRCm39) F96L probably damaging Het
Pde1b T C 15: 103,436,745 (GRCm39) L534P possibly damaging Het
Pdzd8 C T 19: 59,288,125 (GRCm39) E1092K probably damaging Het
Pfkl T C 10: 77,837,249 (GRCm39) H108R probably benign Het
Pkhd1l1 G A 15: 44,421,372 (GRCm39) V3047I probably benign Het
Plag1 A T 4: 3,904,812 (GRCm39) C126* probably null Het
Pphln1 T A 15: 93,353,406 (GRCm39) S229T probably benign Het
Pramel5 C T 4: 144,000,451 (GRCm39) D42N possibly damaging Het
Psd3 A G 8: 68,166,390 (GRCm39) V915A probably benign Het
Ptdss1 T A 13: 67,093,391 (GRCm39) I77N probably benign Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sv2c A T 13: 96,113,152 (GRCm39) V599E probably damaging Het
Vmn2r37 T C 7: 9,220,898 (GRCm39) T322A probably benign Het
Vmn2r60 T A 7: 41,786,487 (GRCm39) M430K probably benign Het
Wipf3 T A 6: 54,458,904 (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
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
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'- GTGTGGTGCCATATTAGCCAAG -3'
(R):5'- AGGTTGCACTGGTGGATTCTAC -3'

Sequencing Primer
(F):5'- GTGGTGCCATATTAGCCAAGATCTC -3'
(R):5'- AACCAACTCGAAGTCCTGTTGGG -3'
Posted On 2019-05-15