Incidental Mutation 'R3913:Kcnj15'
ID 309533
Institutional Source Beutler Lab
Gene Symbol Kcnj15
Ensembl Gene ENSMUSG00000062609
Gene Name potassium inwardly-rectifying channel, subfamily J, member 15
Synonyms IRKK, Kir4.2, 4930414N08Rik
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 95058417-95101119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95097329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 317 (T317I)
Ref Sequence ENSEMBL: ENSMUSP00000109493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037154] [ENSMUST00000113854] [ENSMUST00000113855] [ENSMUST00000113856] [ENSMUST00000113858] [ENSMUST00000113859] [ENSMUST00000113861] [ENSMUST00000113862] [ENSMUST00000152516] [ENSMUST00000140222] [ENSMUST00000134166] [ENSMUST00000138329] [ENSMUST00000125847]
AlphaFold O88932
Predicted Effect probably damaging
Transcript: ENSMUST00000037154
AA Change: T317I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045218
Gene: ENSMUSG00000062609
AA Change: T317I

DomainStartEndE-ValueType
Pfam:IRK 57 384 4.4e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113854
AA Change: T290I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109485
Gene: ENSMUSG00000062609
AA Change: T290I

DomainStartEndE-ValueType
Pfam:IRK 30 365 2.5e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113855
AA Change: T290I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109486
Gene: ENSMUSG00000062609
AA Change: T290I

DomainStartEndE-ValueType
Pfam:IRK 30 365 2.5e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113856
AA Change: T290I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109487
Gene: ENSMUSG00000062609
AA Change: T290I

DomainStartEndE-ValueType
Pfam:IRK 30 365 2.5e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113858
AA Change: T290I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109489
Gene: ENSMUSG00000062609
AA Change: T290I

DomainStartEndE-ValueType
Pfam:IRK 57 392 4.9e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113859
AA Change: T317I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109490
Gene: ENSMUSG00000062609
AA Change: T317I

DomainStartEndE-ValueType
Pfam:IRK 57 392 4.9e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113861
AA Change: T317I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109492
Gene: ENSMUSG00000062609
AA Change: T317I

DomainStartEndE-ValueType
Pfam:IRK 57 392 4.9e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113862
AA Change: T317I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109493
Gene: ENSMUSG00000062609
AA Change: T317I

DomainStartEndE-ValueType
Pfam:IRK 57 392 4.9e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232622
Predicted Effect probably benign
Transcript: ENSMUST00000140222
Predicted Effect probably benign
Transcript: ENSMUST00000134166
SMART Domains Protein: ENSMUSP00000118992
Gene: ENSMUSG00000062609

DomainStartEndE-ValueType
Pfam:IRK 57 173 8.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232605
Predicted Effect probably benign
Transcript: ENSMUST00000125847
Meta Mutation Damage Score 0.8704 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous knockout mice exhibited impaired balance/coordination in a high-throughput screen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly damaging Het
Other mutations in Kcnj15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00733:Kcnj15 APN 16 95,097,322 (GRCm39) missense probably damaging 1.00
IGL03096:Kcnj15 APN 16 95,097,293 (GRCm39) missense probably damaging 1.00
R1117:Kcnj15 UTSW 16 95,096,484 (GRCm39) missense probably benign 0.28
R3911:Kcnj15 UTSW 16 95,097,329 (GRCm39) missense probably damaging 1.00
R3928:Kcnj15 UTSW 16 95,097,368 (GRCm39) missense possibly damaging 0.95
R4155:Kcnj15 UTSW 16 95,097,166 (GRCm39) nonsense probably null
R4613:Kcnj15 UTSW 16 95,096,653 (GRCm39) missense probably damaging 1.00
R5334:Kcnj15 UTSW 16 95,097,508 (GRCm39) missense probably damaging 1.00
R6151:Kcnj15 UTSW 16 95,096,527 (GRCm39) nonsense probably null
R6334:Kcnj15 UTSW 16 95,097,095 (GRCm39) missense probably damaging 1.00
R6446:Kcnj15 UTSW 16 95,097,118 (GRCm39) missense probably benign 0.00
R6727:Kcnj15 UTSW 16 95,097,193 (GRCm39) missense probably damaging 1.00
R7070:Kcnj15 UTSW 16 95,096,690 (GRCm39) missense probably damaging 1.00
R8348:Kcnj15 UTSW 16 95,096,609 (GRCm39) missense probably damaging 1.00
R8937:Kcnj15 UTSW 16 95,097,548 (GRCm39) unclassified probably benign
R9018:Kcnj15 UTSW 16 95,097,129 (GRCm39) missense probably damaging 1.00
R9167:Kcnj15 UTSW 16 95,096,741 (GRCm39) missense probably damaging 1.00
R9171:Kcnj15 UTSW 16 95,097,481 (GRCm39) missense probably benign
R9371:Kcnj15 UTSW 16 95,097,556 (GRCm39) missense unknown
R9760:Kcnj15 UTSW 16 95,096,483 (GRCm39) missense probably benign 0.13
Z1088:Kcnj15 UTSW 16 95,096,978 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTCTGGAAAACTCCTGC -3'
(R):5'- TCTCAGAATCGGCACAGTAGAAG -3'

Sequencing Primer
(F):5'- TCTCTGGAAAACTCCTGCAGACAC -3'
(R):5'- TAGAAGGTACAATCCGGGCTCTTC -3'
Posted On 2015-04-17