Incidental Mutation 'R7911:Kcnj5'
ID 610517
Institutional Source Beutler Lab
Gene Symbol Kcnj5
Ensembl Gene ENSMUSG00000032034
Gene Name potassium inwardly-rectifying channel, subfamily J, member 5
Synonyms GIRK4, Kir3.4
MMRRC Submission 045960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7911 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 32226002-32255640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32233517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 266 (D266G)
Ref Sequence ENSEMBL: ENSMUSP00000034533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034533] [ENSMUST00000214223] [ENSMUST00000216033]
AlphaFold P48545
Predicted Effect probably damaging
Transcript: ENSMUST00000034533
AA Change: D266G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: D266G

DomainStartEndE-ValueType
Pfam:IRK 54 377 7e-147 PFAM
low complexity region 387 405 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214223
AA Change: D266G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216033
Meta Mutation Damage Score 0.7345 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit mild resting tachycardias and reduced muscarinic-gated atrial potassium channel responses to pharmacological stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,693,667 (GRCm39) F95L probably benign Het
Abca3 C G 17: 24,617,478 (GRCm39) D1058E probably damaging Het
Abca7 C A 10: 79,840,867 (GRCm39) R919S probably benign Het
Abcc2 T C 19: 43,792,109 (GRCm39) S297P probably benign Het
Abcc8 A G 7: 45,803,860 (GRCm39) L438P probably damaging Het
Acbd6 C A 1: 155,562,750 (GRCm39) D250E probably damaging Het
Ankrd31 A G 13: 97,015,608 (GRCm39) N1626D possibly damaging Het
Arrdc4 C T 7: 68,394,924 (GRCm39) E112K probably benign Het
B3galnt1 T A 3: 69,482,574 (GRCm39) Y229F probably damaging Het
Calcrl A C 2: 84,181,575 (GRCm39) I191S probably damaging Het
Camkmt T A 17: 85,759,866 (GRCm39) probably null Het
Card11 A G 5: 140,867,755 (GRCm39) probably null Het
Cfap157 A G 2: 32,668,219 (GRCm39) L407P probably damaging Het
Cfap299 T A 5: 98,885,567 (GRCm39) M158K possibly damaging Het
Chst15 T C 7: 131,872,251 (GRCm39) Q10R probably benign Het
Ciao3 A G 17: 25,999,372 (GRCm39) E262G probably benign Het
Col26a1 A G 5: 136,771,952 (GRCm39) L424P probably damaging Het
Cryzl2 T C 1: 157,299,925 (GRCm39) M308T probably benign Het
Ctu2 T C 8: 123,207,733 (GRCm39) I403T probably benign Het
Ddhd2 A G 8: 26,238,563 (GRCm39) probably null Het
Dmrt1 T A 19: 25,580,692 (GRCm39) L368Q probably benign Het
Dnah7b C A 1: 46,178,838 (GRCm39) P837Q probably damaging Het
Drg2 T A 11: 60,355,001 (GRCm39) L283Q possibly damaging Het
Dscam G A 16: 96,445,122 (GRCm39) T1523I probably benign Het
Farp1 T C 14: 121,479,818 (GRCm39) S370P probably damaging Het
Fbxl21 G A 13: 56,684,976 (GRCm39) G360D probably damaging Het
Fbxo39 T C 11: 72,208,358 (GRCm39) S237P probably damaging Het
Gart G T 16: 91,435,672 (GRCm39) F180L probably benign Het
Gng4 T C 13: 13,999,857 (GRCm39) L42P possibly damaging Het
Heatr9 T A 11: 83,403,234 (GRCm39) D435V probably damaging Het
Hsh2d A G 8: 72,950,648 (GRCm39) E45G probably damaging Het
Ighv1-74 A G 12: 115,766,410 (GRCm39) I70T probably damaging Het
Igkv1-133 T A 6: 67,701,924 (GRCm39) F9L probably benign Het
Ipo5 A G 14: 121,167,051 (GRCm39) probably null Het
Jmjd1c T C 10: 67,067,774 (GRCm39) V1578A probably damaging Het
Klk1b9 A T 7: 43,629,211 (GRCm39) K206N probably damaging Het
Macir T A 1: 97,573,615 (GRCm39) H150L probably damaging Het
Madd C T 2: 90,997,853 (GRCm39) G725D probably null Het
Mki67 A T 7: 135,306,333 (GRCm39) H576Q probably damaging Het
Mprip T A 11: 59,651,681 (GRCm39) I36N Het
Mycbp2 T G 14: 103,437,621 (GRCm39) E2113D probably damaging Het
Noa1 T C 5: 77,457,677 (GRCm39) Y76C probably damaging Het
Noct A G 3: 51,155,069 (GRCm39) probably benign Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Pcdhga6 C T 18: 37,842,479 (GRCm39) S733L not run Het
Pdlim7 T C 13: 55,646,919 (GRCm39) E389G probably damaging Het
Ppip5k1 A G 2: 121,173,139 (GRCm39) Y480H possibly damaging Het
Prc1 T A 7: 79,954,120 (GRCm39) D93E probably benign Het
Prdm15 A G 16: 97,613,792 (GRCm39) M459T probably benign Het
Ptpn13 G A 5: 103,688,924 (GRCm39) A906T probably damaging Het
Ptpn21 T C 12: 98,655,101 (GRCm39) E622G probably damaging Het
Pum1 T C 4: 130,501,788 (GRCm39) V1104A probably benign Het
Scn2a G A 2: 65,512,427 (GRCm39) R188Q probably null Het
Sh3pxd2b G A 11: 32,321,533 (GRCm39) V31I probably damaging Het
Skor1 T C 9: 63,052,328 (GRCm39) E547G possibly damaging Het
Slk C T 19: 47,603,668 (GRCm39) T183I Het
Sorcs1 C A 19: 50,132,470 (GRCm39) D1163Y unknown Het
Tex14 G A 11: 87,424,428 (GRCm39) probably null Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Tlcd4 A T 3: 121,022,041 (GRCm39) I119K probably damaging Het
Trav5-4 T C 14: 53,941,908 (GRCm39) F94L probably benign Het
Trpc6 G C 9: 8,656,705 (GRCm39) G789R probably benign Het
Ttn A T 2: 76,537,095 (GRCm39) C34944* probably null Het
Usp53 T C 3: 122,754,916 (GRCm39) M180V probably benign Het
Vwa3b T C 1: 37,193,107 (GRCm39) S8P probably damaging Het
Wdr90 A T 17: 26,069,723 (GRCm39) M1205K probably benign Het
Zcwpw1 A T 5: 137,795,032 (GRCm39) E76V probably null Het
Other mutations in Kcnj5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Kcnj5 APN 9 32,233,719 (GRCm39) missense probably damaging 1.00
IGL01700:Kcnj5 APN 9 32,233,925 (GRCm39) missense probably damaging 1.00
IGL02250:Kcnj5 APN 9 32,229,052 (GRCm39) missense probably damaging 1.00
IGL02683:Kcnj5 APN 9 32,229,076 (GRCm39) missense possibly damaging 0.94
IGL02981:Kcnj5 APN 9 32,233,877 (GRCm39) missense probably damaging 1.00
R0388:Kcnj5 UTSW 9 32,229,159 (GRCm39) missense probably damaging 1.00
R0464:Kcnj5 UTSW 9 32,234,269 (GRCm39) missense possibly damaging 0.87
R0524:Kcnj5 UTSW 9 32,234,270 (GRCm39) missense probably benign 0.16
R1711:Kcnj5 UTSW 9 32,233,865 (GRCm39) missense probably damaging 1.00
R1730:Kcnj5 UTSW 9 32,233,488 (GRCm39) missense probably damaging 1.00
R1783:Kcnj5 UTSW 9 32,233,488 (GRCm39) missense probably damaging 1.00
R2203:Kcnj5 UTSW 9 32,234,196 (GRCm39) missense probably benign 0.43
R2424:Kcnj5 UTSW 9 32,234,116 (GRCm39) missense probably damaging 1.00
R3701:Kcnj5 UTSW 9 32,229,124 (GRCm39) missense possibly damaging 0.95
R4459:Kcnj5 UTSW 9 32,233,691 (GRCm39) missense probably damaging 1.00
R4657:Kcnj5 UTSW 9 32,233,973 (GRCm39) missense probably benign
R5422:Kcnj5 UTSW 9 32,229,001 (GRCm39) missense probably benign 0.00
R6073:Kcnj5 UTSW 9 32,229,096 (GRCm39) missense probably damaging 1.00
R7185:Kcnj5 UTSW 9 32,233,472 (GRCm39) missense probably damaging 1.00
R7289:Kcnj5 UTSW 9 32,234,045 (GRCm39) missense probably damaging 1.00
R7294:Kcnj5 UTSW 9 32,234,045 (GRCm39) missense probably damaging 1.00
R7295:Kcnj5 UTSW 9 32,234,087 (GRCm39) missense probably damaging 1.00
R7296:Kcnj5 UTSW 9 32,234,045 (GRCm39) missense probably damaging 1.00
R7450:Kcnj5 UTSW 9 32,233,491 (GRCm39) missense possibly damaging 0.52
R7688:Kcnj5 UTSW 9 32,234,264 (GRCm39) missense probably benign 0.00
R8506:Kcnj5 UTSW 9 32,233,628 (GRCm39) missense probably damaging 1.00
Z1177:Kcnj5 UTSW 9 32,228,994 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AACTTGCACCCTAGAGAGCC -3'
(R):5'- AATGCCGTCATCTCCATGC -3'

Sequencing Primer
(F):5'- AGCAGGCTAAGCTCCACG -3'
(R):5'- TCCATGCGGGATGAGAAGCTG -3'
Posted On 2019-12-20