Incidental Mutation 'R6165:Kcnj14'
ID 490089
Institutional Source Beutler Lab
Gene Symbol Kcnj14
Ensembl Gene ENSMUSG00000058743
Gene Name potassium inwardly-rectifying channel, subfamily J, member 14
Synonyms Kir2.4, A930026G01Rik, IRK4
MMRRC Submission 044311-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6165 (G1)
Quality Score 212.009
Status Validated
Chromosome 7
Chromosomal Location 45465871-45474180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45469424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 27 (A27E)
Ref Sequence ENSEMBL: ENSMUSP00000071829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071937] [ENSMUST00000210232]
AlphaFold Q8JZN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000071937
AA Change: A27E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
AA Change: A27E

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:IRK 51 377 1.1e-146 PFAM
low complexity region 399 405 N/A INTRINSIC
low complexity region 418 434 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210232
AA Change: A27E

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 98% (47/48)
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, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,590,623 (GRCm39) E303G possibly damaging Het
Atosa A G 9: 74,932,954 (GRCm39) T974A probably damaging Het
C2cd5 T C 6: 142,995,954 (GRCm39) T389A possibly damaging Het
Catsperb T A 12: 101,542,075 (GRCm39) Y592N possibly damaging Het
Cfap91 A G 16: 38,154,173 (GRCm39) F124S possibly damaging Het
Cnot9 T C 1: 74,567,952 (GRCm39) V280A probably benign Het
Cyld A G 8: 89,473,561 (GRCm39) I927V possibly damaging Het
Etfdh A T 3: 79,512,251 (GRCm39) S490T probably benign Het
Fance C T 17: 28,545,068 (GRCm39) R150C probably benign Het
Far1 A G 7: 113,153,425 (GRCm39) K353E probably benign Het
Fbn1 T C 2: 125,174,283 (GRCm39) I1858V probably damaging Het
Frem1 T C 4: 82,874,492 (GRCm39) K1359E probably benign Het
Ghdc T G 11: 100,659,928 (GRCm39) E273A possibly damaging Het
Gpt A G 15: 76,582,170 (GRCm39) D209G probably benign Het
Hspb7 T C 4: 141,149,862 (GRCm39) F83L probably benign Het
Itga7 A G 10: 128,778,804 (GRCm39) I306M probably benign Het
Itgb5 A G 16: 33,719,612 (GRCm39) E261G probably benign Het
Kif13b A G 14: 64,979,760 (GRCm39) H470R probably damaging Het
Macroh2a1 A T 13: 56,252,268 (GRCm39) N108K probably damaging Het
Morc3 T C 16: 93,638,271 (GRCm39) F18L probably damaging Het
Mrgprb8 T A 7: 48,038,565 (GRCm39) C79S possibly damaging Het
Mroh2b T A 15: 4,947,832 (GRCm39) M549K probably benign Het
Msl1 T C 11: 98,695,673 (GRCm39) V563A probably damaging Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Or5b124 A T 19: 13,610,507 (GRCm39) I11F possibly damaging Het
Or5b124 C T 19: 13,610,952 (GRCm39) A159V probably benign Het
Phf2 C A 13: 48,967,341 (GRCm39) probably null Het
Pjvk T G 2: 76,480,562 (GRCm39) probably null Het
Rgl2 A G 17: 34,150,739 (GRCm39) T66A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtkn G T 6: 83,122,944 (GRCm39) E67D probably damaging Het
Serpinb9 T A 13: 33,192,807 (GRCm39) F121L possibly damaging Het
Slc34a1 G A 13: 23,999,053 (GRCm39) V149I probably benign Het
Sobp A G 10: 42,898,599 (GRCm39) S329P probably damaging Het
Syne1 A T 10: 5,375,678 (GRCm39) L138Q probably damaging Het
Tfr2 T A 5: 137,578,519 (GRCm39) V449D probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Trank1 T C 9: 111,220,940 (GRCm39) V2559A probably benign Het
Trim35 T C 14: 66,546,654 (GRCm39) Y474H probably damaging Het
Uso1 A T 5: 92,335,126 (GRCm39) L495F probably damaging Het
Wdr24 A G 17: 26,045,395 (GRCm39) I377V probably benign Het
Xpo5 T A 17: 46,546,883 (GRCm39) V878D possibly damaging Het
Zfc3h1 A G 10: 115,256,574 (GRCm39) I1515V probably benign Het
Zfp319 CA C 8: 96,054,733 (GRCm39) 489 probably null Het
Zfp384 T G 6: 125,001,896 (GRCm39) probably null Het
Zfp704 G T 3: 9,508,946 (GRCm39) P416T probably benign Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown Het
Other mutations in Kcnj14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2241:Kcnj14 UTSW 7 45,469,325 (GRCm39) missense probably benign 0.03
R6122:Kcnj14 UTSW 7 45,468,875 (GRCm39) missense possibly damaging 0.83
R6228:Kcnj14 UTSW 7 45,468,921 (GRCm39) missense probably damaging 0.99
R6251:Kcnj14 UTSW 7 45,467,440 (GRCm39) missense probably damaging 1.00
R7062:Kcnj14 UTSW 7 45,467,314 (GRCm39) missense probably damaging 1.00
R7833:Kcnj14 UTSW 7 45,467,317 (GRCm39) missense probably damaging 1.00
R8739:Kcnj14 UTSW 7 45,468,812 (GRCm39) missense probably damaging 1.00
R9066:Kcnj14 UTSW 7 45,469,073 (GRCm39) missense probably damaging 1.00
R9069:Kcnj14 UTSW 7 45,469,388 (GRCm39) missense probably benign 0.41
R9165:Kcnj14 UTSW 7 45,469,068 (GRCm39) missense possibly damaging 0.92
R9392:Kcnj14 UTSW 7 45,467,159 (GRCm39) missense probably benign 0.10
Z1177:Kcnj14 UTSW 7 45,469,333 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCCACTTGCGAGAAACAG -3'
(R):5'- TGGTACCCCTGACATTCCTG -3'

Sequencing Primer
(F):5'- GTCAGGCCGAAGAGCAACC -3'
(R):5'- CTAGGACAGATCTAGAGGGG -3'
Posted On 2017-10-10