Incidental Mutation 'R5530:Kcnj2'
ID 433653
Institutional Source Beutler Lab
Gene Symbol Kcnj2
Ensembl Gene ENSMUSG00000041695
Gene Name potassium inwardly-rectifying channel, subfamily J, member 2
Synonyms Kcnf1, IRK1, Kir2.1
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 110956990-110967647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110962917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 103 (F103S)
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 damaging
Transcript: ENSMUST00000042970
AA Change: F103S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: F103S

DomainStartEndE-ValueType
Pfam:IRK_N 1 47 2.9e-29 PFAM
Pfam:IRK 48 373 7.3e-158 PFAM
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Aplp1 T C 7: 30,136,254 (GRCm39) S508G possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fbxo46 T C 7: 18,870,727 (GRCm39) Y449H probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Npy5r T A 8: 67,133,512 (GRCm39) Y427F probably benign Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Or8b12c A G 9: 37,716,103 (GRCm39) T299A probably benign Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rad21l A T 2: 151,499,430 (GRCm39) I257K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sec61a2 A T 2: 5,887,461 (GRCm39) Y131* probably null Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Kcnj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Kcnj2 APN 11 110,962,653 (GRCm39) missense probably damaging 1.00
IGL02448:Kcnj2 APN 11 110,963,108 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GTCCATACCCGACAACAGTG -3'
(R):5'- TGCAGCCTACGATTGACTGG -3'

Sequencing Primer
(F):5'- GCAGGAGCCGCTTTGTGAAG -3'
(R):5'- TGCAGCCTACGATTGACTGGAATAC -3'
Posted On 2016-10-06