Incidental Mutation 'R6582:Kcnj6'
ID 524192
Institutional Source Beutler Lab
Gene Symbol Kcnj6
Ensembl Gene ENSMUSG00000043301
Gene Name potassium inwardly-rectifying channel, subfamily J, member 6
Synonyms GIRK2, Kir3.2, KCNJ7
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 94549495-94798560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94633685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 142 (V142A)
Ref Sequence ENSEMBL: ENSMUSP00000093558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095873] [ENSMUST00000099508] [ENSMUST00000165538] [ENSMUST00000232562]
AlphaFold no structure available at present
PDB Structure Crystal Structure of the Cytoplasmic Domain of G-Protein-Gated Inward Rectifier Potassium Channel Kir3.2 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095873
AA Change: V142A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: V142A

DomainStartEndE-ValueType
Pfam:IRK 59 397 9.3e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099508
AA Change: V142A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: V142A

DomainStartEndE-ValueType
Pfam:IRK 59 382 8.5e-146 PFAM
low complexity region 396 411 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165538
AA Change: V124A

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: V124A

DomainStartEndE-ValueType
Pfam:IRK 41 302 5.3e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232403
Predicted Effect probably benign
Transcript: ENSMUST00000232562
AA Change: V124A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.2347 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
PHENOTYPE: A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(1) Spontaneous(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Kcnj6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Kcnj6 APN 16 94,633,314 (GRCm39) missense probably damaging 0.99
IGL01433:Kcnj6 APN 16 94,633,814 (GRCm39) missense probably benign 0.21
IGL01603:Kcnj6 APN 16 94,634,058 (GRCm39) missense probably benign 0.00
IGL02212:Kcnj6 APN 16 94,633,346 (GRCm39) missense probably damaging 1.00
IGL02982:Kcnj6 APN 16 94,633,376 (GRCm39) missense possibly damaging 0.89
IGL03351:Kcnj6 APN 16 94,633,442 (GRCm39) missense probably damaging 1.00
Seizure UTSW 16 94,633,518 (GRCm39) missense probably damaging 1.00
H8477:Kcnj6 UTSW 16 94,633,796 (GRCm39) missense probably damaging 1.00
IGL02796:Kcnj6 UTSW 16 94,633,778 (GRCm39) missense probably benign 0.00
R0070:Kcnj6 UTSW 16 94,742,056 (GRCm39) missense probably benign
R1558:Kcnj6 UTSW 16 94,563,358 (GRCm39) missense possibly damaging 0.57
R1676:Kcnj6 UTSW 16 94,633,443 (GRCm39) missense probably damaging 1.00
R2435:Kcnj6 UTSW 16 94,563,538 (GRCm39) missense probably damaging 0.99
R3700:Kcnj6 UTSW 16 94,633,865 (GRCm39) missense probably damaging 0.96
R3800:Kcnj6 UTSW 16 94,633,886 (GRCm39) missense probably damaging 1.00
R4012:Kcnj6 UTSW 16 94,625,877 (GRCm39) splice site probably null
R4899:Kcnj6 UTSW 16 94,633,472 (GRCm39) missense probably damaging 1.00
R5124:Kcnj6 UTSW 16 94,633,518 (GRCm39) missense probably damaging 1.00
R5359:Kcnj6 UTSW 16 94,633,312 (GRCm39) nonsense probably null
R5560:Kcnj6 UTSW 16 94,633,824 (GRCm39) missense probably benign 0.06
R5583:Kcnj6 UTSW 16 94,634,060 (GRCm39) missense probably benign 0.26
R6057:Kcnj6 UTSW 16 94,633,236 (GRCm39) missense probably damaging 1.00
R6330:Kcnj6 UTSW 16 94,563,460 (GRCm39) missense possibly damaging 0.93
R6604:Kcnj6 UTSW 16 94,563,504 (GRCm39) missense probably damaging 1.00
R6802:Kcnj6 UTSW 16 94,563,436 (GRCm39) missense probably benign 0.06
R6866:Kcnj6 UTSW 16 94,563,536 (GRCm39) missense probably damaging 1.00
R7304:Kcnj6 UTSW 16 94,742,042 (GRCm39) missense probably benign
R7337:Kcnj6 UTSW 16 94,634,073 (GRCm39) missense probably benign 0.10
R7396:Kcnj6 UTSW 16 94,563,306 (GRCm39) missense probably benign 0.31
R8543:Kcnj6 UTSW 16 94,563,250 (GRCm39) missense possibly damaging 0.73
R9614:Kcnj6 UTSW 16 94,633,307 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCACAGTTTCCCATCCCG -3'
(R):5'- TGACGGACATCTTCACCAC -3'

Sequencing Primer
(F):5'- ATGGAGATCACCGCGTGG -3'
(R):5'- ACCCTGGTGGACCTGAAGTG -3'
Posted On 2018-06-22