Incidental Mutation 'R0421:Kcna10'
ID 37044
Institutional Source Beutler Lab
Gene Symbol Kcna10
Ensembl Gene ENSMUSG00000042861
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 10
Synonyms Kv1.8, Kcna8
MMRRC Submission 038623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R0421 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107090459-107103037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107101820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 150 (K150N)
Ref Sequence ENSEMBL: ENSMUSP00000088118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055064]
AlphaFold B2RQA1
Predicted Effect probably damaging
Transcript: ENSMUST00000055064
AA Change: K150N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: K150N

DomainStartEndE-ValueType
BTB 86 186 1.07e-6 SMART
Pfam:Ion_trans 215 468 3.4e-51 PFAM
Pfam:Ion_trans_2 376 461 6.2e-16 PFAM
Meta Mutation Damage Score 0.3239 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significant vestibular and mild hearing dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Arsg A G 11: 109,418,592 (GRCm39) Y196C probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Kpna7 T A 5: 144,926,551 (GRCm39) H467L possibly damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or52ac1 A G 7: 104,245,929 (GRCm39) V153A probably benign Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Pcdhb11 T A 18: 37,555,533 (GRCm39) S288T probably benign Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Sbds A G 5: 130,282,774 (GRCm39) probably benign Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Tsc22d2 G A 3: 58,324,749 (GRCm39) probably benign Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Kcna10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Kcna10 APN 3 107,102,044 (GRCm39) missense probably damaging 1.00
IGL00481:Kcna10 APN 3 107,102,830 (GRCm39) missense probably benign
IGL00645:Kcna10 APN 3 107,102,781 (GRCm39) missense possibly damaging 0.95
IGL00974:Kcna10 APN 3 107,102,647 (GRCm39) missense probably damaging 1.00
IGL03108:Kcna10 APN 3 107,102,259 (GRCm39) missense probably benign 0.00
R0020:Kcna10 UTSW 3 107,102,736 (GRCm39) missense probably damaging 1.00
R0811:Kcna10 UTSW 3 107,102,575 (GRCm39) missense possibly damaging 0.89
R0812:Kcna10 UTSW 3 107,102,575 (GRCm39) missense possibly damaging 0.89
R2176:Kcna10 UTSW 3 107,102,032 (GRCm39) missense probably damaging 1.00
R4405:Kcna10 UTSW 3 107,102,781 (GRCm39) missense possibly damaging 0.95
R4668:Kcna10 UTSW 3 107,102,010 (GRCm39) missense possibly damaging 0.83
R4703:Kcna10 UTSW 3 107,101,926 (GRCm39) missense probably benign 0.22
R4719:Kcna10 UTSW 3 107,102,217 (GRCm39) missense probably benign
R4736:Kcna10 UTSW 3 107,102,808 (GRCm39) missense probably benign
R5227:Kcna10 UTSW 3 107,101,744 (GRCm39) missense probably damaging 1.00
R5564:Kcna10 UTSW 3 107,101,545 (GRCm39) missense probably benign
R5735:Kcna10 UTSW 3 107,102,394 (GRCm39) missense probably benign
R7418:Kcna10 UTSW 3 107,102,362 (GRCm39) missense probably benign 0.12
R7464:Kcna10 UTSW 3 107,101,395 (GRCm39) missense probably damaging 0.99
R7699:Kcna10 UTSW 3 107,102,856 (GRCm39) missense probably damaging 1.00
R7700:Kcna10 UTSW 3 107,102,856 (GRCm39) missense probably damaging 1.00
R7978:Kcna10 UTSW 3 107,101,663 (GRCm39) missense probably damaging 1.00
R8068:Kcna10 UTSW 3 107,101,726 (GRCm39) missense possibly damaging 0.58
R8744:Kcna10 UTSW 3 107,101,702 (GRCm39) missense probably damaging 1.00
R8932:Kcna10 UTSW 3 107,101,419 (GRCm39) missense probably damaging 0.96
R9137:Kcna10 UTSW 3 107,102,497 (GRCm39) missense probably damaging 1.00
R9728:Kcna10 UTSW 3 107,101,513 (GRCm39) missense possibly damaging 0.89
X0026:Kcna10 UTSW 3 107,102,473 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAGTGGTCTTGAATGAGGGAAAC -3'
(R):5'- GTCTCCAGGCAGAAGATGGTGATG -3'

Sequencing Primer
(F):5'- CATCAACATTGCTGGTCTGAG -3'
(R):5'- TGGTGATGGAGATGACTACAACC -3'
Posted On 2013-05-09