Incidental Mutation 'IGL02448:Kcnj2'
ID293588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj2
Ensembl Gene ENSMUSG00000041695
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 2
SynonymsIRK1, Kcnf1, Kir2.1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02448
Quality Score
Status
Chromosome11
Chromosomal Location111066164-111076821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 111072282 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 167 (V167L)
Ref Sequence ENSEMBL: ENSMUSP00000037192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042970]
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: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Kcnj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Kcnj2 APN 11 111071827 missense probably damaging 1.00
R0090:Kcnj2 UTSW 11 111073027 missense probably benign 0.02
R1162:Kcnj2 UTSW 11 111072967 missense probably benign
R1990:Kcnj2 UTSW 11 111072883 missense probably benign 0.00
R3948:Kcnj2 UTSW 11 111072655 missense possibly damaging 0.73
R4417:Kcnj2 UTSW 11 111072189 missense probably damaging 1.00
R4605:Kcnj2 UTSW 11 111072850 missense probably damaging 1.00
R5191:Kcnj2 UTSW 11 111072471 nonsense probably null
R5439:Kcnj2 UTSW 11 111072231 missense probably damaging 1.00
R5530:Kcnj2 UTSW 11 111072091 missense probably damaging 1.00
R6167:Kcnj2 UTSW 11 111072489 missense probably benign
R7126:Kcnj2 UTSW 11 111072822 missense probably damaging 1.00
R7713:Kcnj2 UTSW 11 111072483 missense probably benign 0.00
R8007:Kcnj2 UTSW 11 111073058 missense probably benign 0.24
X0052:Kcnj2 UTSW 11 111071856 missense probably benign 0.13
Z1176:Kcnj2 UTSW 11 111072135 missense probably benign
Posted On2015-04-16