Incidental Mutation 'R9069:Kcnj14'
ID 689428
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9069 (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 45469388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 39 (G39V)
Ref Sequence ENSEMBL: ENSMUSP00000071829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071937] [ENSMUST00000210232]
AlphaFold Q8JZN3
Predicted Effect probably benign
Transcript: ENSMUST00000071937
AA Change: G39V

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
AA Change: G39V

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
AA Change: G39V

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (78/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,818,523 (GRCm39) C103S probably damaging Het
Adamts20 T C 15: 94,236,349 (GRCm39) S841G probably benign Het
Add3 T A 19: 53,222,332 (GRCm39) V313E possibly damaging Het
Ahr G T 12: 35,562,771 (GRCm39) probably benign Het
Ankrd12 T A 17: 66,356,874 (GRCm39) M48L probably benign Het
Apaf1 A C 10: 90,859,580 (GRCm39) probably null Het
Bank1 T C 3: 135,989,772 (GRCm39) H106R probably benign Het
Birc6 A G 17: 74,868,260 (GRCm39) probably benign Het
Castor1 A G 11: 4,170,141 (GRCm39) E73G probably benign Het
Ccdc170 C T 10: 4,511,016 (GRCm39) H692Y possibly damaging Het
Cd93 A G 2: 148,284,071 (GRCm39) I425T probably benign Het
Celsr1 A C 15: 85,914,772 (GRCm39) L1067R possibly damaging Het
Clca3a2 A T 3: 144,519,447 (GRCm39) probably benign Het
Col14a1 T C 15: 55,251,990 (GRCm39) S549P unknown Het
Col6a4 A G 9: 105,952,138 (GRCm39) S587P possibly damaging Het
Crebbp C A 16: 3,903,187 (GRCm39) M2017I probably benign Het
Crybg1 A C 10: 43,874,103 (GRCm39) F1002V probably benign Het
Ctif T C 18: 75,654,458 (GRCm39) E356G probably damaging Het
Dbx2 T C 15: 95,530,239 (GRCm39) K243E probably damaging Het
Dgkh C T 14: 78,853,957 (GRCm39) V394I probably damaging Het
Dnaja4 T A 9: 54,621,638 (GRCm39) M321K probably benign Het
Dock9 T C 14: 121,866,324 (GRCm39) N593S probably damaging Het
Dot1l T A 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Eea1 A T 10: 95,831,510 (GRCm39) L200F probably damaging Het
Elp2 T G 18: 24,765,833 (GRCm39) F658V probably benign Het
Fbxw15 G A 9: 109,394,468 (GRCm39) Q116* probably null Het
Fstl5 A T 3: 76,615,416 (GRCm39) N826Y probably damaging Het
Galp T C 7: 6,214,347 (GRCm39) S60P possibly damaging Het
Gm7298 G T 6: 121,761,393 (GRCm39) M1316I probably benign Het
Gsdmc T C 15: 63,649,902 (GRCm39) M330V probably benign Het
Hectd2 T C 19: 36,562,862 (GRCm39) F175L probably benign Het
Hmbs A G 9: 44,248,102 (GRCm39) I318T possibly damaging Het
Ifi205 T C 1: 173,855,841 (GRCm39) D63G probably benign Het
Il10ra T A 9: 45,167,396 (GRCm39) Q387L probably damaging Het
Kpna1 T C 16: 35,836,381 (GRCm39) probably benign Het
Lrp2 A T 2: 69,331,996 (GRCm39) D1586E probably damaging Het
Lrrc45 A G 11: 120,607,947 (GRCm39) I243V probably benign Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Mamdc4 G T 2: 25,453,371 (GRCm39) T1216N probably damaging Het
Map1a A C 2: 121,134,145 (GRCm39) K1654Q probably benign Het
Mta2 G A 19: 8,924,104 (GRCm39) V195M probably damaging Het
Nav2 G T 7: 49,208,561 (GRCm39) R1583L probably damaging Het
Or2y1g A T 11: 49,171,247 (GRCm39) T91S probably benign Het
Or4c112 A T 2: 88,854,308 (GRCm39) L13Q probably damaging Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
Osbpl1a T A 18: 13,002,074 (GRCm39) probably benign Het
Pcdh17 T C 14: 84,685,084 (GRCm39) V517A possibly damaging Het
Pcdhb14 T A 18: 37,583,157 (GRCm39) C754* probably null Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhm3 T C 1: 64,960,802 (GRCm39) N485D probably benign Het
Plekho1 A C 3: 95,902,995 (GRCm39) S14A unknown Het
Ppp2r3d A T 9: 101,090,006 (GRCm39) C106S probably benign Het
Ppp6c A C 2: 39,094,928 (GRCm39) L99R probably damaging Het
Pramel27 A G 4: 143,578,345 (GRCm39) S202G probably benign Het
Prkdc T A 16: 15,653,091 (GRCm39) Y3855* probably null Het
Ptpru A T 4: 131,503,565 (GRCm39) I1155N possibly damaging Het
Reln C T 5: 22,216,059 (GRCm39) G1042D probably damaging Het
Sall4 A G 2: 168,596,773 (GRCm39) V689A probably benign Het
Sec31b C T 19: 44,507,741 (GRCm39) G768S probably damaging Het
Serpinb10 T A 1: 107,474,549 (GRCm39) V237D probably benign Het
Serpinb9 T G 13: 33,199,579 (GRCm39) D291E probably benign Het
Slc12a7 T G 13: 73,954,089 (GRCm39) probably benign Het
Slfn8 A T 11: 82,907,902 (GRCm39) F214I probably damaging Het
Slu7 A T 11: 43,328,952 (GRCm39) D58V probably damaging Het
Smu1 T C 4: 40,745,558 (GRCm39) Y254C probably damaging Het
Snapc4 A T 2: 26,260,805 (GRCm39) Y479* probably null Het
Specc1l A G 10: 75,066,640 (GRCm39) N30D probably benign Het
Spopfm1 A C 3: 94,173,153 (GRCm39) S50R possibly damaging Het
Tbck T C 3: 132,428,130 (GRCm39) probably null Het
Tcf7l1 T C 6: 72,610,259 (GRCm39) Y246C probably damaging Het
Tmem43 C T 6: 91,463,897 (GRCm39) R391W possibly damaging Het
Trav7-1 T G 14: 52,892,566 (GRCm39) S40A possibly damaging Het
Trim45 T A 3: 100,832,440 (GRCm39) Y224* probably null Het
Trio A T 15: 27,852,097 (GRCm39) I798N possibly damaging Het
Trnau1ap A T 4: 132,056,662 (GRCm39) probably null Het
Vmn1r213 T C 13: 23,196,043 (GRCm39) S209P probably damaging Het
Ythdf1 G T 2: 180,552,857 (GRCm39) R453S probably damaging 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
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
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'- GTTGTTCTGCAGGTTTGGGGC -3'
Posted On 2021-11-19