Incidental Mutation 'R6122:Kcnj14'
ID 485765
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 044269-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6122 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45465871-45474180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45468875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 210 (R210L)
Ref Sequence ENSEMBL: ENSMUSP00000071829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071937] [ENSMUST00000210232] [ENSMUST00000211263]
AlphaFold Q8JZN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000071937
AA Change: R210L

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
AA Change: R210L

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 probably benign
Transcript: ENSMUST00000210232
Predicted Effect probably benign
Transcript: ENSMUST00000211263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211394
Meta Mutation Damage Score 0.4819 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,750 (GRCm39) *301W probably null Het
Abat A G 16: 8,423,414 (GRCm39) I236V probably benign Het
Abca8a T C 11: 109,961,249 (GRCm39) T558A probably benign Het
Ace3 A C 11: 105,885,764 (GRCm39) M57L probably benign Het
Adgrg1 T C 8: 95,729,129 (GRCm39) S18P probably benign Het
Ahi1 A G 10: 20,934,064 (GRCm39) D60G probably benign Het
Ap4e1 T A 2: 126,870,080 (GRCm39) probably null Het
Arnt2 C A 7: 84,010,773 (GRCm39) K34N probably damaging Het
Ascc3 T A 10: 50,494,021 (GRCm39) M152K probably benign Het
AW551984 A T 9: 39,505,051 (GRCm39) F480L probably benign Het
Blvrb G A 7: 27,158,773 (GRCm39) A58T possibly damaging Het
Bpifa1 C T 2: 153,985,892 (GRCm39) T69I probably benign Het
Cacna1g T A 11: 94,320,997 (GRCm39) M1366L probably benign Het
Ccdc82 A G 9: 13,266,880 (GRCm39) I361V probably benign Het
Clca4b T A 3: 144,631,927 (GRCm39) I193F possibly damaging Het
Crb1 A T 1: 139,176,686 (GRCm39) Y371* probably null Het
Cul9 T C 17: 46,832,854 (GRCm39) D1363G possibly damaging Het
Cyp2j8 C T 4: 96,332,877 (GRCm39) A490T probably benign Het
D430041D05Rik A T 2: 104,086,637 (GRCm39) S780T probably benign Het
Fzd5 G T 1: 64,774,815 (GRCm39) C315* probably null Het
Gabrr1 T C 4: 33,161,695 (GRCm39) S340P probably damaging Het
Galnt7 T C 8: 57,979,200 (GRCm39) D641G probably damaging Het
Gm7133 A G 1: 97,110,948 (GRCm39) noncoding transcript Het
Heatr5b A G 17: 79,120,602 (GRCm39) L774P possibly damaging Het
Itch T A 2: 155,015,985 (GRCm39) S157T probably benign Het
Itgam A C 7: 127,684,824 (GRCm39) D398A probably damaging Het
Kalrn G T 16: 33,805,561 (GRCm39) L2659M possibly damaging Het
Kmt2d T C 15: 98,758,573 (GRCm39) probably benign Het
Krt1c G C 15: 101,724,349 (GRCm39) T305S probably damaging Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Naf1 T A 8: 67,336,096 (GRCm39) I341K probably damaging Het
Nbea G T 3: 55,937,317 (GRCm39) H765N probably damaging Het
Ncapd3 A G 9: 26,975,278 (GRCm39) I776V probably benign Het
Neo1 A T 9: 58,824,291 (GRCm39) D712E probably benign Het
Neu1 G A 17: 35,153,730 (GRCm39) V385I probably benign Het
Or14j3 C A 17: 37,900,817 (GRCm39) R142S probably benign Het
Or51a6 C A 7: 102,604,011 (GRCm39) G273C probably damaging Het
Or51a6 A G 7: 102,604,737 (GRCm39) Y24H probably benign Het
Pgghg A C 7: 140,523,308 (GRCm39) T196P possibly damaging Het
Pira2 A T 7: 3,845,445 (GRCm39) V313E probably damaging Het
Pkd1l2 T C 8: 117,809,107 (GRCm39) R28G probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Ppp1r9a T A 6: 4,905,509 (GRCm39) N21K probably damaging Het
Prune1 T C 3: 95,169,554 (GRCm39) D216G probably benign Het
Ptpn23 G T 9: 110,216,893 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,301,351 (GRCm39) M668K probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpsa G T 9: 119,960,102 (GRCm39) V222L probably benign Het
Septin2 A G 1: 93,425,098 (GRCm39) T45A probably damaging Het
Slc12a8 A T 16: 33,445,384 (GRCm39) D260V probably damaging Het
Srrm2 G T 17: 24,039,330 (GRCm39) M2087I possibly damaging Het
Tg T C 15: 66,700,306 (GRCm39) L88P probably damaging Het
Tns1 A G 1: 73,991,578 (GRCm39) probably null Het
Topbp1 A T 9: 103,224,160 (GRCm39) D1429V probably benign Het
Tprg1 A G 16: 25,241,151 (GRCm39) probably null Het
Trit1 T C 4: 122,933,261 (GRCm39) I66T possibly damaging Het
Usf3 A T 16: 44,037,670 (GRCm39) I717L probably damaging Het
Other mutations in Kcnj14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2241:Kcnj14 UTSW 7 45,469,325 (GRCm39) missense probably benign 0.03
R6165:Kcnj14 UTSW 7 45,469,424 (GRCm39) missense possibly damaging 0.95
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'- AAGGGGTCTTCCTGTACTTTCC -3'
(R):5'- CTGGAGACACAGACGTCCATAG -3'

Sequencing Primer
(F):5'- CAACCGTTCCTCTTCTAATCACACAC -3'
(R):5'- GACACAGACGTCCATAGGCTATG -3'
Posted On 2017-08-16