Incidental Mutation 'IGL02250:Kcnj5'
ID286335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj5
Ensembl Gene ENSMUSG00000032034
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 5
SynonymsGIRK4, Kir3.4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02250
Quality Score
Status
Chromosome9
Chromosomal Location32314707-32344350 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32317756 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 49 (C49R)
Ref Sequence ENSEMBL: ENSMUSP00000149461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034533] [ENSMUST00000214223] [ENSMUST00000216033]
Predicted Effect probably damaging
Transcript: ENSMUST00000034533
AA Change: C362R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: C362R

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: C362R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216033
AA Change: C49R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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, 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T A 7: 28,629,710 probably benign Het
Antxr2 A C 5: 97,977,595 probably null Het
Areg T A 5: 91,141,108 I91K possibly damaging Het
Arf1 G A 11: 59,213,167 R79C probably benign Het
Bbs2 A T 8: 94,092,426 I105N probably benign Het
Ccdc158 A T 5: 92,608,478 I1090N probably damaging Het
Ccdc90b T A 7: 92,574,615 probably benign Het
Cep57 A T 9: 13,810,643 F221I probably damaging Het
Ckap5 C T 2: 91,548,901 A62V probably damaging Het
Cntn5 G A 9: 10,145,331 R125C probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cxxc1 T A 18: 74,219,169 D321E probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dnm1l A G 16: 16,321,686 probably benign Het
Eif2d T A 1: 131,160,429 S184T probably benign Het
Emcn T A 3: 137,418,986 probably benign Het
Fry A T 5: 150,403,434 probably benign Het
Gas2 T A 7: 51,888,038 M37K probably damaging Het
Habp2 A G 19: 56,308,929 S100G probably benign Het
Lhx2 T A 2: 38,354,833 D236E probably benign Het
Megf8 T A 7: 25,342,575 S1273T probably benign Het
Mrps2 T C 2: 28,469,545 I138T possibly damaging Het
Mta1 T C 12: 113,126,798 S175P possibly damaging Het
Npat T A 9: 53,548,951 Y66* probably null Het
Nup160 A G 2: 90,708,870 R798G probably damaging Het
Olfr668 T C 7: 104,925,015 I250V probably damaging Het
Olfr921 C A 9: 38,775,554 Q100K probably damaging Het
Plxnc1 C T 10: 94,871,031 G548E probably benign Het
Radil A G 5: 142,543,774 S56P probably damaging Het
Rpgrip1l A T 8: 91,232,861 M1137K probably benign Het
Serpina1c T G 12: 103,897,228 M238L probably benign Het
Tbc1d14 A G 5: 36,571,519 S168P probably damaging Het
Tmem209 A G 6: 30,487,388 S498P probably damaging Het
Utrn A G 10: 12,436,391 Y607H probably damaging Het
Vipr1 A G 9: 121,665,189 I279V probably benign Het
Vmn2r67 T G 7: 85,155,800 N35H probably benign Het
Xirp2 C T 2: 67,514,012 T2199I probably benign Het
Zfp423 A G 8: 87,783,255 S86P probably damaging Het
Zfp831 A G 2: 174,648,201 K1254E possibly damaging Het
Zfp873 T A 10: 82,058,418 M1K probably null Het
Other mutations in Kcnj5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Kcnj5 APN 9 32322423 missense probably damaging 1.00
IGL01700:Kcnj5 APN 9 32322629 missense probably damaging 1.00
IGL02683:Kcnj5 APN 9 32317780 missense possibly damaging 0.94
IGL02981:Kcnj5 APN 9 32322581 missense probably damaging 1.00
R0388:Kcnj5 UTSW 9 32317863 missense probably damaging 1.00
R0464:Kcnj5 UTSW 9 32322973 missense possibly damaging 0.87
R0524:Kcnj5 UTSW 9 32322974 missense probably benign 0.16
R1711:Kcnj5 UTSW 9 32322569 missense probably damaging 1.00
R1730:Kcnj5 UTSW 9 32322192 missense probably damaging 1.00
R1783:Kcnj5 UTSW 9 32322192 missense probably damaging 1.00
R2203:Kcnj5 UTSW 9 32322900 missense probably benign 0.43
R2424:Kcnj5 UTSW 9 32322820 missense probably damaging 1.00
R3701:Kcnj5 UTSW 9 32317828 missense possibly damaging 0.95
R4459:Kcnj5 UTSW 9 32322395 missense probably damaging 1.00
R4657:Kcnj5 UTSW 9 32322677 missense probably benign
R5422:Kcnj5 UTSW 9 32317705 missense probably benign 0.00
R6073:Kcnj5 UTSW 9 32317800 missense probably damaging 1.00
R7185:Kcnj5 UTSW 9 32322176 missense probably damaging 1.00
R7289:Kcnj5 UTSW 9 32322749 missense probably damaging 1.00
R7294:Kcnj5 UTSW 9 32322749 missense probably damaging 1.00
R7295:Kcnj5 UTSW 9 32322791 missense probably damaging 1.00
R7296:Kcnj5 UTSW 9 32322749 missense probably damaging 1.00
R7450:Kcnj5 UTSW 9 32322195 missense possibly damaging 0.52
R7688:Kcnj5 UTSW 9 32322968 missense probably benign 0.00
R7911:Kcnj5 UTSW 9 32322221 missense probably damaging 1.00
R7992:Kcnj5 UTSW 9 32322221 missense probably damaging 1.00
Posted On2015-04-16