Incidental Mutation 'IGL02448:Kcnj2'
ID 293588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj2
Ensembl Gene ENSMUSG00000041695
Gene Name potassium inwardly-rectifying channel, subfamily J, member 2
Synonyms Kcnf1, IRK1, Kir2.1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02448
Quality Score
Status
Chromosome 11
Chromosomal Location 110956990-110967647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110963108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 167 (V167L)
Ref Sequence ENSEMBL: ENSMUSP00000037192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042970]
AlphaFold P35561
PDB Structure Crystal Structure of Cytoplasmic Domains of IRK1 (Kir2.1) channel [X-RAY DIFFRACTION]
Cytoplasmic Domain Structure of Kir2.1 containing Andersen's Mutation R218Q and Rescue Mutation T309K [X-RAY DIFFRACTION]
Single particle analysis of Kir2.1NC_4 in negative stain [SOLUTION SCATTERING, ELECTRON MICROSCOPY]
Predicted Effect probably benign
Transcript: ENSMUST00000042970
AA Change: V167L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: V167L

DomainStartEndE-ValueType
Pfam:IRK_N 1 47 2.9e-29 PFAM
Pfam:IRK 48 373 7.3e-158 PFAM
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. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,786,866 (GRCm39) I286F probably damaging Het
Arhgap5 A G 12: 52,609,123 (GRCm39) E1366G probably damaging Het
Blzf1 T A 1: 164,123,350 (GRCm39) I326F possibly damaging Het
Cc2d2a A C 5: 43,840,547 (GRCm39) probably benign Het
Cdc37 T C 9: 21,051,147 (GRCm39) E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 (GRCm39) S279P probably benign Het
Cdh18 T C 15: 23,173,875 (GRCm39) S30P probably benign Het
Cep192 A G 18: 68,002,518 (GRCm39) T2238A probably benign Het
Cpped1 C T 16: 11,623,253 (GRCm39) E289K probably benign Het
Ctsq A T 13: 61,184,044 (GRCm39) Y293N probably damaging Het
Epb41l2 A G 10: 25,369,493 (GRCm39) N20S possibly damaging Het
Gcc2 T A 10: 58,128,393 (GRCm39) C1304* probably null Het
Hsd3b5 C T 3: 98,529,447 (GRCm39) G61E probably damaging Het
Igfals A T 17: 25,099,161 (GRCm39) N84I probably damaging Het
Irs2 A T 8: 11,057,862 (GRCm39) V190D probably benign Het
Kank1 T A 19: 25,388,739 (GRCm39) L804Q probably damaging Het
Kif20a T C 18: 34,761,507 (GRCm39) V300A possibly damaging Het
Kmt2d T C 15: 98,741,991 (GRCm39) probably benign Het
Moxd1 T C 10: 24,158,617 (GRCm39) F424L probably damaging Het
Mpeg1 A C 19: 12,439,973 (GRCm39) D477A probably benign Het
Mtmr10 A T 7: 63,957,898 (GRCm39) Y166F probably damaging Het
Muc5b T G 7: 141,422,226 (GRCm39) I4454S possibly damaging Het
Ntng1 G A 3: 109,841,875 (GRCm39) probably benign Het
Or52r1b T C 7: 102,691,604 (GRCm39) I306T possibly damaging Het
Or7e175 T A 9: 20,048,937 (GRCm39) L175* probably null Het
Pex11a A T 7: 79,387,208 (GRCm39) probably null Het
Plcg2 A G 8: 118,333,960 (GRCm39) D911G probably benign Het
Rc3h2 T C 2: 37,279,817 (GRCm39) T471A probably benign Het
Rif1 T A 2: 52,006,708 (GRCm39) L2214Q probably damaging Het
Rtel1 T A 2: 180,977,830 (GRCm39) S120T probably benign Het
Ryr1 A G 7: 28,804,491 (GRCm39) probably benign Het
Sh3yl1 G T 12: 30,989,666 (GRCm39) A129S probably damaging Het
Slc25a10 A G 11: 120,387,879 (GRCm39) T191A probably benign Het
Slc8b1 T C 5: 120,663,856 (GRCm39) S359P probably damaging Het
Srf T C 17: 46,866,349 (GRCm39) T136A possibly damaging Het
Stx1a G T 5: 135,052,473 (GRCm39) probably benign Het
Taf1d T A 9: 15,221,690 (GRCm39) C224* probably null Het
Tnik A G 3: 28,675,226 (GRCm39) S700G probably null Het
Ttn T C 2: 76,773,331 (GRCm39) H2357R probably benign Het
Ttn T C 2: 76,566,458 (GRCm39) E28145G probably damaging Het
Ush1c C A 7: 45,858,561 (GRCm39) V576F possibly damaging Het
Xpc T C 6: 91,492,726 (GRCm39) E19G probably benign Het
Zdhhc25 G A 15: 88,485,045 (GRCm39) V127M probably damaging Het
Other mutations in Kcnj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Kcnj2 APN 11 110,962,653 (GRCm39) missense probably damaging 1.00
R0090:Kcnj2 UTSW 11 110,963,853 (GRCm39) missense probably benign 0.02
R1162:Kcnj2 UTSW 11 110,963,793 (GRCm39) missense probably benign
R1990:Kcnj2 UTSW 11 110,963,709 (GRCm39) missense probably benign 0.00
R3948:Kcnj2 UTSW 11 110,963,481 (GRCm39) missense possibly damaging 0.73
R4417:Kcnj2 UTSW 11 110,963,015 (GRCm39) missense probably damaging 1.00
R4605:Kcnj2 UTSW 11 110,963,676 (GRCm39) missense probably damaging 1.00
R5191:Kcnj2 UTSW 11 110,963,297 (GRCm39) nonsense probably null
R5439:Kcnj2 UTSW 11 110,963,057 (GRCm39) missense probably damaging 1.00
R5530:Kcnj2 UTSW 11 110,962,917 (GRCm39) missense probably damaging 1.00
R6167:Kcnj2 UTSW 11 110,963,315 (GRCm39) missense probably benign
R7126:Kcnj2 UTSW 11 110,963,648 (GRCm39) missense probably damaging 1.00
R7713:Kcnj2 UTSW 11 110,963,309 (GRCm39) missense probably benign 0.00
R8007:Kcnj2 UTSW 11 110,963,884 (GRCm39) missense probably benign 0.24
R9019:Kcnj2 UTSW 11 110,963,415 (GRCm39) missense probably damaging 1.00
R9072:Kcnj2 UTSW 11 110,962,664 (GRCm39) missense possibly damaging 0.49
R9073:Kcnj2 UTSW 11 110,962,664 (GRCm39) missense possibly damaging 0.49
R9252:Kcnj2 UTSW 11 110,963,355 (GRCm39) missense probably damaging 1.00
R9327:Kcnj2 UTSW 11 110,963,719 (GRCm39) missense probably benign 0.07
R9418:Kcnj2 UTSW 11 110,963,357 (GRCm39) missense probably damaging 1.00
X0052:Kcnj2 UTSW 11 110,962,682 (GRCm39) missense probably benign 0.13
Z1176:Kcnj2 UTSW 11 110,962,961 (GRCm39) missense probably benign
Posted On 2015-04-16