Incidental Mutation 'R7475:Kcnj3'
ID 579389
Institutional Source Beutler Lab
Gene Symbol Kcnj3
Ensembl Gene ENSMUSG00000026824
Gene Name potassium inwardly-rectifying channel, subfamily J, member 3
Synonyms GIRK1, Kcnf3, Kir3.1
MMRRC Submission 045549-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 55325982-55488157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55327338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 42 (K42N)
Ref Sequence ENSEMBL: ENSMUSP00000063329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067101] [ENSMUST00000112632] [ENSMUST00000112633]
AlphaFold P63250
PDB Structure Crystal Structure of the Cytoplasmic Domain of G-protein Activated Inward Rectifier Potassium Channel 1 [X-RAY DIFFRACTION]
Crystal Structure of Cytoplasmic Domains of GIRK1 channel [X-RAY DIFFRACTION]
Crystal structure of a Kir3.1-prokaryotic Kir channel chimera [X-RAY DIFFRACTION]
Crystal structure of the S225E mutant Kir3.1 cytoplasmic pore domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000067101
AA Change: K42N

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: K42N

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:IRK 47 385 3.6e-164 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112632
AA Change: K42N

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: K42N

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:IRK 47 235 4e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112633
AA Change: K42N

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: K42N

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:IRK 47 369 1.1e-141 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
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, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation display slightly increased resting heart rates, and blunted responses to both indirect vagal activation and direct adenosine A1 receptor activation (intended to activate the muscarinic-gated atrial potassium channel). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,739 (GRCm39) N214K probably benign Het
Abcf1 A G 17: 36,274,459 (GRCm39) probably null Het
Agxt2 A T 15: 10,409,623 (GRCm39) M508L probably benign Het
Akr1c21 A T 13: 4,626,318 (GRCm39) Y114F probably benign Het
Amz1 T C 5: 140,729,941 (GRCm39) probably null Het
Ank1 G T 8: 23,622,646 (GRCm39) A1732S probably benign Het
Atg16l1 T C 1: 87,687,805 (GRCm39) S50P possibly damaging Het
AW551984 A G 9: 39,509,236 (GRCm39) S302P probably damaging Het
Ccn6 T A 10: 39,034,296 (GRCm39) Y102F probably damaging Het
Ces3a T A 8: 105,780,322 (GRCm39) probably null Het
Dedd C A 1: 171,167,881 (GRCm39) P185Q probably benign Het
Fam186a A T 15: 99,845,395 (GRCm39) V283E unknown Het
Fat2 C A 11: 55,194,479 (GRCm39) V1187F probably benign Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fcgbp C T 7: 27,802,401 (GRCm39) T1443I probably damaging Het
Foxj2 A G 6: 122,814,801 (GRCm39) D279G probably benign Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm49368 A T 7: 127,707,154 (GRCm39) T661S possibly damaging Het
Gria4 T G 9: 4,513,330 (GRCm39) T260P probably damaging Het
Gtf2ird2 T A 5: 134,230,267 (GRCm39) D195E possibly damaging Het
Hectd4 T A 5: 121,496,196 (GRCm39) probably null Het
Ifngr2 G A 16: 91,354,797 (GRCm39) C32Y unknown Het
Ikzf5 A T 7: 130,993,788 (GRCm39) C280S probably benign Het
Ints9 G T 14: 65,263,914 (GRCm39) E395D probably null Het
Isoc2b T C 7: 4,854,084 (GRCm39) D96G probably benign Het
Jmjd1c T G 10: 67,061,092 (GRCm39) S967R probably benign Het
Kiz T C 2: 146,733,006 (GRCm39) V394A possibly damaging Het
Knl1 A T 2: 118,918,027 (GRCm39) H1795L probably damaging Het
Lmntd2 A G 7: 140,790,602 (GRCm39) probably null Het
Loxhd1 C A 18: 77,500,001 (GRCm39) D1690E possibly damaging Het
Lrp1b T C 2: 41,234,588 (GRCm39) D1121G Het
Map3k2 T C 18: 32,333,015 (GRCm39) V63A possibly damaging Het
Mcc G T 18: 44,609,303 (GRCm39) A499D probably damaging Het
Mcpt9 T A 14: 56,264,400 (GRCm39) I232F probably damaging Het
Meltf A G 16: 31,700,756 (GRCm39) K92R probably benign Het
Mff T A 1: 82,723,159 (GRCm39) probably null Het
Mrgpra3 T A 7: 47,239,695 (GRCm39) Y77F probably damaging Het
Mylk G A 16: 34,734,446 (GRCm39) probably null Het
Ndufv2 A G 17: 66,394,532 (GRCm39) V111A possibly damaging Het
Nkd2 T C 13: 73,973,861 (GRCm39) E99G probably damaging Het
Nlk C A 11: 78,474,225 (GRCm39) G358V probably damaging Het
Nnmt A T 9: 48,503,532 (GRCm39) C165S probably damaging Het
Nxpe4 T A 9: 48,304,640 (GRCm39) C242* probably null Het
Oas1b A T 5: 120,955,705 (GRCm39) N162I probably damaging Het
Or4s2 A G 2: 88,473,554 (GRCm39) I148V probably benign Het
Otog A G 7: 45,916,700 (GRCm39) N879S probably damaging Het
Pcsk7 T A 9: 45,838,923 (GRCm39) Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pkhd1l1 C T 15: 44,368,581 (GRCm39) Q800* probably null Het
Pkn3 T C 2: 29,977,122 (GRCm39) S621P probably benign Het
Polr3c T C 3: 96,622,501 (GRCm39) I385V probably benign Het
Ppp1r21 G T 17: 88,863,031 (GRCm39) G257W probably benign Het
Prkn A G 17: 11,653,501 (GRCm39) D199G probably benign Het
Pxylp1 C T 9: 96,738,420 (GRCm39) probably null Het
Rasgrp1 T C 2: 117,116,589 (GRCm39) T613A probably benign Het
Robo3 C T 9: 37,336,674 (GRCm39) V387I probably benign Het
Rxfp2 T A 5: 149,973,046 (GRCm39) Y174N possibly damaging Het
Sec24a T C 11: 51,604,379 (GRCm39) M746V probably damaging Het
Sema4f T A 6: 82,891,355 (GRCm39) E571D possibly damaging Het
Septin3 T C 15: 82,170,657 (GRCm39) V217A probably benign Het
Serpinb1b A C 13: 33,277,548 (GRCm39) K260N probably benign Het
Sin3b A G 8: 73,476,500 (GRCm39) T645A possibly damaging Het
Sobp C T 10: 42,897,830 (GRCm39) R585Q probably damaging Het
Specc1l T A 10: 75,082,281 (GRCm39) L559Q possibly damaging Het
Srxn1 C T 2: 151,947,573 (GRCm39) probably benign Het
Sspo G A 6: 48,432,794 (GRCm39) R890Q probably benign Het
Stard9 A G 2: 120,518,591 (GRCm39) D505G probably damaging Het
Tjp1 A T 7: 64,972,087 (GRCm39) I653K probably damaging Het
Tnks C T 8: 35,298,866 (GRCm39) E1296K probably damaging Het
Ttbk2 A T 2: 120,579,121 (GRCm39) I667N probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Usp46 T A 5: 74,189,598 (GRCm39) K109* probably null Het
Vmn1r191 A G 13: 22,362,942 (GRCm39) C271R probably benign Het
Zfp592 T C 7: 80,673,200 (GRCm39) S55P probably damaging Het
Zmynd15 T C 11: 70,351,867 (GRCm39) S158P probably benign Het
Zscan22 T G 7: 12,640,664 (GRCm39) C303G probably damaging Het
Other mutations in Kcnj3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Kcnj3 APN 2 55,485,284 (GRCm39) missense possibly damaging 0.88
IGL01889:Kcnj3 APN 2 55,327,216 (GRCm39) missense possibly damaging 0.69
IGL01988:Kcnj3 APN 2 55,327,243 (GRCm39) missense probably benign 0.43
IGL01989:Kcnj3 APN 2 55,327,243 (GRCm39) missense probably benign 0.43
IGL02004:Kcnj3 APN 2 55,327,243 (GRCm39) missense probably benign 0.43
IGL02035:Kcnj3 APN 2 55,327,590 (GRCm39) missense probably damaging 1.00
R0268:Kcnj3 UTSW 2 55,484,971 (GRCm39) nonsense probably null
R0565:Kcnj3 UTSW 2 55,485,276 (GRCm39) missense probably benign 0.03
R0853:Kcnj3 UTSW 2 55,327,235 (GRCm39) missense possibly damaging 0.69
R1318:Kcnj3 UTSW 2 55,327,750 (GRCm39) missense possibly damaging 0.88
R1592:Kcnj3 UTSW 2 55,327,898 (GRCm39) missense probably damaging 1.00
R1756:Kcnj3 UTSW 2 55,327,232 (GRCm39) missense probably damaging 1.00
R1899:Kcnj3 UTSW 2 55,327,256 (GRCm39) missense probably damaging 1.00
R1966:Kcnj3 UTSW 2 55,327,343 (GRCm39) missense probably damaging 0.99
R2891:Kcnj3 UTSW 2 55,337,027 (GRCm39) missense probably damaging 1.00
R2892:Kcnj3 UTSW 2 55,337,027 (GRCm39) missense probably damaging 1.00
R2893:Kcnj3 UTSW 2 55,337,027 (GRCm39) missense probably damaging 1.00
R3901:Kcnj3 UTSW 2 55,327,360 (GRCm39) missense possibly damaging 0.46
R4470:Kcnj3 UTSW 2 55,327,877 (GRCm39) missense probably damaging 1.00
R4603:Kcnj3 UTSW 2 55,336,991 (GRCm39) nonsense probably null
R4694:Kcnj3 UTSW 2 55,484,918 (GRCm39) missense probably benign 0.00
R4945:Kcnj3 UTSW 2 55,327,590 (GRCm39) missense probably damaging 1.00
R5144:Kcnj3 UTSW 2 55,337,059 (GRCm39) splice site probably null
R5332:Kcnj3 UTSW 2 55,327,559 (GRCm39) missense probably damaging 1.00
R5959:Kcnj3 UTSW 2 55,327,330 (GRCm39) missense probably benign 0.10
R6352:Kcnj3 UTSW 2 55,327,561 (GRCm39) missense probably benign 0.06
R7042:Kcnj3 UTSW 2 55,484,877 (GRCm39) missense possibly damaging 0.87
R7626:Kcnj3 UTSW 2 55,484,833 (GRCm39) nonsense probably null
R7771:Kcnj3 UTSW 2 55,336,949 (GRCm39) missense probably damaging 1.00
R8225:Kcnj3 UTSW 2 55,327,726 (GRCm39) missense probably damaging 1.00
R8558:Kcnj3 UTSW 2 55,336,875 (GRCm39) missense possibly damaging 0.91
R8986:Kcnj3 UTSW 2 55,485,039 (GRCm39) missense probably benign
R9653:Kcnj3 UTSW 2 55,484,864 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGACTGCTGCTACCTGC -3'
(R):5'- AGTGTAGTTGCCGACATGGG -3'

Sequencing Primer
(F):5'- AGGCGCCTGCTTTCGTC -3'
(R):5'- CCCGGGTATAAGCGATCAC -3'
Posted On 2019-10-07