Incidental Mutation 'R6316:Kcnj1'
ID 509990
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 044416-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6316 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32308632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 332 (E332V)
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: E332V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: E332V

DomainStartEndE-ValueType
Pfam:IRK 24 361 1.4e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172015
AA Change: E352V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: E352V

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213393
AA Change: E332V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,118 (GRCm39) T775A probably benign Het
Adam6a A T 12: 113,509,196 (GRCm39) N523I probably benign Het
Adgrv1 T C 13: 81,647,187 (GRCm39) T3118A possibly damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Asxl3 A G 18: 22,655,839 (GRCm39) Y1283C probably damaging Het
Btbd2 T A 10: 80,480,612 (GRCm39) I319F probably damaging Het
Eno4 G A 19: 58,948,723 (GRCm39) probably null Het
Glis2 T A 16: 4,431,700 (GRCm39) probably benign Het
Grin2b A T 6: 135,757,277 (GRCm39) C395S probably benign Het
H1f8 T C 6: 115,925,876 (GRCm39) probably null Het
Kansl1l T A 1: 66,774,744 (GRCm39) Y694F probably benign Het
Klhdc7a T C 4: 139,694,113 (GRCm39) E278G probably benign Het
Krt33a T C 11: 99,905,027 (GRCm39) N160D probably damaging Het
Ksr2 A G 5: 117,823,567 (GRCm39) N448S probably damaging Het
Lpar6 A G 14: 73,476,774 (GRCm39) Y245C probably damaging Het
Magel2 T C 7: 62,028,467 (GRCm39) I457T possibly damaging Het
Manf A G 9: 106,766,385 (GRCm39) L132P probably damaging Het
Moxd2 T C 6: 40,860,481 (GRCm39) D321G probably damaging Het
Mtmr12 T A 15: 12,236,199 (GRCm39) C153S probably null Het
Muc16 T C 9: 18,553,115 (GRCm39) T4393A probably benign Het
Notch3 T C 17: 32,356,787 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,768 (GRCm39) Y276C probably damaging Het
Pirb T A 7: 3,720,822 (GRCm39) K225N probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Rilpl2 A G 5: 124,615,943 (GRCm39) V69A probably damaging Het
Smdt1 T C 15: 82,232,210 (GRCm39) V99A probably damaging Het
Smpd1 T C 7: 105,204,709 (GRCm39) V196A probably benign Het
Supt20 TCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCAGCA 3: 54,635,069 (GRCm39) probably benign Het
Tcte1 A G 17: 45,845,786 (GRCm39) H130R probably benign Het
Tead1 C A 7: 112,491,046 (GRCm39) Q296K probably damaging Het
Thoc2l G C 5: 104,667,595 (GRCm39) G706R probably damaging Het
Tmem163 C T 1: 127,479,102 (GRCm39) S139N probably benign Het
Tor1aip2 G T 1: 155,937,840 (GRCm39) D192Y probably damaging Het
Trgv2 G A 13: 19,520,912 (GRCm39) Q61* probably null Het
Trib1 T C 15: 59,521,264 (GRCm39) S85P probably benign Het
Trrap T A 5: 144,750,336 (GRCm39) N1581K probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Xrn2 A G 2: 146,883,930 (GRCm39) Y563C 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
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
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'- CATGGCGGCAGAAACTCTTTC -3'
(R):5'- TGCTTCTGAACACAGCCAG -3'

Sequencing Primer
(F):5'- TCCCAACAGGACTTCGAGTTG -3'
(R):5'- AGCACTTAGGTCCTTGAGAGACTC -3'
Posted On 2018-04-02