Incidental Mutation 'R5227:Kcna10'
ID 402662
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 042800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107090459-107103037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107101744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 125 (M125R)
Ref Sequence ENSEMBL: ENSMUSP00000088118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055064]
AlphaFold B2RQA1
Predicted Effect probably damaging
Transcript: ENSMUST00000055064
AA Change: M125R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: M125R

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V 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
R0421:Kcna10 UTSW 3 107,101,820 (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
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'- CCAAGATCCCAGGAGAGTATGTG -3'
(R):5'- AAGTCATTGGTGGGCAGCAG -3'

Sequencing Primer
(F):5'- ATCCCAGGAGAGTATGTGGATCCC -3'
(R):5'- GTCTCAGGGTCCTTAATGAAGCC -3'
Posted On 2016-07-22