Incidental Mutation 'R6545:Kcnh5'
ID 521134
Institutional Source Beutler Lab
Gene Symbol Kcnh5
Ensembl Gene ENSMUSG00000034402
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 5
Synonyms
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 74943994-75224106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75054432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 504 (R504Q)
Ref Sequence ENSEMBL: ENSMUSP00000046864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042299]
AlphaFold Q920E3
Predicted Effect probably damaging
Transcript: ENSMUST00000042299
AA Change: R504Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: R504Q

DomainStartEndE-ValueType
PAS 14 86 8.97e0 SMART
PAC 92 134 6.64e-7 SMART
Pfam:Ion_trans 214 479 1.2e-37 PFAM
Pfam:Ion_trans_2 390 473 5e-14 PFAM
cNMP 550 668 2.48e-15 SMART
low complexity region 710 717 N/A INTRINSIC
coiled coil region 907 944 N/A INTRINSIC
low complexity region 953 968 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Kcnh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Kcnh5 APN 12 74,944,570 (GRCm39) missense probably benign 0.00
IGL00675:Kcnh5 APN 12 75,160,963 (GRCm39) critical splice donor site probably null
IGL00688:Kcnh5 APN 12 74,945,171 (GRCm39) missense probably benign 0.01
IGL00721:Kcnh5 APN 12 75,054,450 (GRCm39) missense probably benign 0.32
IGL00793:Kcnh5 APN 12 75,161,120 (GRCm39) missense probably damaging 0.99
IGL00802:Kcnh5 APN 12 75,054,399 (GRCm39) missense possibly damaging 0.62
IGL00920:Kcnh5 APN 12 75,023,267 (GRCm39) missense probably damaging 1.00
IGL01595:Kcnh5 APN 12 74,945,101 (GRCm39) missense probably benign 0.05
IGL01642:Kcnh5 APN 12 75,011,943 (GRCm39) missense probably damaging 0.98
IGL01675:Kcnh5 APN 12 75,161,274 (GRCm39) nonsense probably null
IGL01733:Kcnh5 APN 12 75,011,966 (GRCm39) missense probably benign 0.02
IGL02006:Kcnh5 APN 12 74,944,322 (GRCm39) missense probably damaging 0.99
IGL02075:Kcnh5 APN 12 75,134,379 (GRCm39) missense probably benign 0.00
IGL02148:Kcnh5 APN 12 74,944,426 (GRCm39) missense possibly damaging 0.86
IGL02155:Kcnh5 APN 12 75,223,312 (GRCm39) utr 5 prime probably benign
IGL02304:Kcnh5 APN 12 75,023,471 (GRCm39) missense probably benign 0.01
IGL02957:Kcnh5 APN 12 75,054,439 (GRCm39) missense probably benign 0.01
R0305:Kcnh5 UTSW 12 75,161,171 (GRCm39) missense probably benign 0.00
R0470:Kcnh5 UTSW 12 75,161,188 (GRCm39) missense probably benign 0.22
R0553:Kcnh5 UTSW 12 75,184,447 (GRCm39) missense probably benign 0.00
R0557:Kcnh5 UTSW 12 75,161,323 (GRCm39) missense probably damaging 1.00
R0590:Kcnh5 UTSW 12 75,012,035 (GRCm39) missense probably damaging 1.00
R0697:Kcnh5 UTSW 12 75,023,305 (GRCm39) missense possibly damaging 0.80
R0699:Kcnh5 UTSW 12 75,023,305 (GRCm39) missense possibly damaging 0.80
R1512:Kcnh5 UTSW 12 75,166,711 (GRCm39) missense probably benign
R1728:Kcnh5 UTSW 12 75,184,465 (GRCm39) missense probably benign 0.18
R1739:Kcnh5 UTSW 12 75,161,003 (GRCm39) missense probably damaging 1.00
R1784:Kcnh5 UTSW 12 75,184,465 (GRCm39) missense probably benign 0.18
R1956:Kcnh5 UTSW 12 74,944,358 (GRCm39) missense probably benign 0.01
R1957:Kcnh5 UTSW 12 74,944,358 (GRCm39) missense probably benign 0.01
R2155:Kcnh5 UTSW 12 74,945,230 (GRCm39) critical splice acceptor site probably null
R2185:Kcnh5 UTSW 12 75,177,705 (GRCm39) missense possibly damaging 0.95
R2237:Kcnh5 UTSW 12 75,054,493 (GRCm39) missense probably benign 0.00
R2239:Kcnh5 UTSW 12 75,054,493 (GRCm39) missense probably benign 0.00
R2483:Kcnh5 UTSW 12 75,161,245 (GRCm39) missense probably damaging 1.00
R2655:Kcnh5 UTSW 12 75,161,314 (GRCm39) missense probably damaging 1.00
R3767:Kcnh5 UTSW 12 75,134,350 (GRCm39) missense possibly damaging 0.81
R3835:Kcnh5 UTSW 12 74,945,044 (GRCm39) missense probably benign
R4681:Kcnh5 UTSW 12 75,054,397 (GRCm39) missense probably benign 0.00
R4728:Kcnh5 UTSW 12 75,054,555 (GRCm39) missense probably damaging 1.00
R4965:Kcnh5 UTSW 12 75,011,925 (GRCm39) missense probably benign 0.11
R5127:Kcnh5 UTSW 12 74,944,858 (GRCm39) missense probably benign 0.17
R5267:Kcnh5 UTSW 12 75,134,190 (GRCm39) missense probably damaging 0.98
R5535:Kcnh5 UTSW 12 75,177,681 (GRCm39) missense possibly damaging 0.76
R5590:Kcnh5 UTSW 12 75,023,463 (GRCm39) missense probably benign 0.05
R5684:Kcnh5 UTSW 12 75,184,423 (GRCm39) missense probably damaging 1.00
R5747:Kcnh5 UTSW 12 74,945,194 (GRCm39) missense probably benign 0.04
R6123:Kcnh5 UTSW 12 75,134,365 (GRCm39) missense probably benign 0.01
R6662:Kcnh5 UTSW 12 75,054,385 (GRCm39) missense probably damaging 1.00
R7117:Kcnh5 UTSW 12 75,161,219 (GRCm39) missense possibly damaging 0.87
R7161:Kcnh5 UTSW 12 74,944,483 (GRCm39) missense probably benign 0.10
R7437:Kcnh5 UTSW 12 75,184,417 (GRCm39) critical splice donor site probably null
R7557:Kcnh5 UTSW 12 75,054,399 (GRCm39) missense possibly damaging 0.62
R7566:Kcnh5 UTSW 12 75,161,166 (GRCm39) nonsense probably null
R7591:Kcnh5 UTSW 12 75,054,541 (GRCm39) missense probably benign 0.24
R7781:Kcnh5 UTSW 12 75,023,455 (GRCm39) missense probably damaging 0.99
R7816:Kcnh5 UTSW 12 75,023,457 (GRCm39) missense probably damaging 1.00
R8152:Kcnh5 UTSW 12 74,944,633 (GRCm39) missense possibly damaging 0.68
R8390:Kcnh5 UTSW 12 75,134,532 (GRCm39) missense probably damaging 1.00
R8560:Kcnh5 UTSW 12 75,023,379 (GRCm39) missense probably damaging 1.00
R9056:Kcnh5 UTSW 12 74,944,774 (GRCm39) missense probably benign 0.00
R9064:Kcnh5 UTSW 12 75,177,727 (GRCm39) nonsense probably null
R9283:Kcnh5 UTSW 12 75,023,307 (GRCm39) missense probably damaging 1.00
R9290:Kcnh5 UTSW 12 75,023,488 (GRCm39) missense probably benign 0.00
R9552:Kcnh5 UTSW 12 75,023,334 (GRCm39) missense probably benign 0.28
R9576:Kcnh5 UTSW 12 74,944,307 (GRCm39) missense probably benign 0.00
R9627:Kcnh5 UTSW 12 75,160,990 (GRCm39) missense probably damaging 0.99
R9645:Kcnh5 UTSW 12 75,134,191 (GRCm39) missense probably benign 0.32
R9650:Kcnh5 UTSW 12 75,023,293 (GRCm39) missense probably benign 0.32
Z1088:Kcnh5 UTSW 12 75,012,069 (GRCm39) missense possibly damaging 0.78
Z1088:Kcnh5 UTSW 12 74,944,535 (GRCm39) missense probably benign 0.00
Z1177:Kcnh5 UTSW 12 75,161,296 (GRCm39) missense probably damaging 1.00
Z1177:Kcnh5 UTSW 12 75,054,571 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TTTCTAAAGCAATTGCACAGGG -3'
(R):5'- GCAGTGTAGTCAGGACTTCC -3'

Sequencing Primer
(F):5'- GCACAGGGCAATTGTGAATG -3'
(R):5'- CCGTTACCATGAGATGCT -3'
Posted On 2018-06-06