Incidental Mutation 'R4417:Kcnj2'
ID 326896
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 041138-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4417 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 110956990-110967647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110963015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 136 (S136P)
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: S136P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: S136P

DomainStartEndE-ValueType
Pfam:IRK_N 1 47 2.9e-29 PFAM
Pfam:IRK 48 373 7.3e-158 PFAM
Meta Mutation Damage Score 0.9563 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (53/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T A 1: 85,654,184 (GRCm39) Y51F probably damaging Het
Abi3bp C A 16: 56,474,398 (GRCm39) T631K probably damaging Het
BC004004 G A 17: 29,501,249 (GRCm39) probably benign Het
Cabp1 G A 5: 115,324,096 (GRCm39) S7L possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Clhc1 T C 11: 29,521,826 (GRCm39) I453T possibly damaging Het
Col28a1 T A 6: 8,175,666 (GRCm39) I61F possibly damaging Het
Col2a1 T C 15: 97,896,466 (GRCm39) E61G unknown Het
Col6a4 C T 9: 105,949,215 (GRCm39) V807I probably damaging Het
Crhbp T C 13: 95,580,385 (GRCm39) S65G probably benign Het
Dnah9 T A 11: 65,872,040 (GRCm39) Q2730L possibly damaging Het
Epx T A 11: 87,760,256 (GRCm39) R453* probably null Het
Fez1 T C 9: 36,781,768 (GRCm39) probably benign Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glp2r T C 11: 67,555,342 (GRCm39) probably benign Het
Gpm6a T A 8: 55,503,223 (GRCm39) N157K probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lcp2 G T 11: 34,000,917 (GRCm39) E33D probably benign Het
Lrrc32 G T 7: 98,148,144 (GRCm39) R308L probably benign Het
Matr3 C A 18: 35,705,171 (GRCm39) A32D probably damaging Het
Mfsd12 A G 10: 81,200,537 (GRCm39) probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Notch2 A G 3: 98,038,586 (GRCm39) D1243G possibly damaging Het
Odf2 T A 2: 29,805,333 (GRCm39) probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or4c125 T C 2: 89,170,331 (GRCm39) E105G probably benign Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pitpnm2 G T 5: 124,261,632 (GRCm39) R977S probably damaging Het
Prdm13 T C 4: 21,678,756 (GRCm39) E578G probably benign Het
Pum3 A G 19: 27,400,116 (GRCm39) I183T probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Slit1 A G 19: 41,602,908 (GRCm39) C968R probably damaging Het
Spag9 A T 11: 93,951,172 (GRCm39) probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Stradb T C 1: 59,033,531 (GRCm39) V398A probably benign Het
Tlr4 A T 4: 66,757,540 (GRCm39) N111I probably damaging Het
Tnip2 G A 5: 34,660,925 (GRCm39) R176* probably null Het
Tomm7 A G 5: 24,048,977 (GRCm39) I32T probably benign Het
Trank1 T C 9: 111,195,036 (GRCm39) I1020T probably benign Het
Ugt1a10 T G 1: 87,983,717 (GRCm39) S172A probably benign Het
Vmn2r115 T A 17: 23,564,854 (GRCm39) M247K probably benign Het
Zfp341 T C 2: 154,470,907 (GRCm39) L308P possibly damaging Het
Zmym6 T C 4: 126,986,781 (GRCm39) S154P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTACTACCTGTGTCGACATCCG -3'
(R):5'- AGAGTTTGCCATCCCTCATG -3'

Sequencing Primer
(F):5'- TGTGTCGACATCCGCTGGAG -3'
(R):5'- TCATGGCAATCACAGCATTG -3'
Posted On 2015-07-07