Incidental Mutation 'R2185:Kcnh5'
ID 237840
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 040187-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 74943994-75224106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75177705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 134 (F134I)
Ref Sequence ENSEMBL: ENSMUSP00000046864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042299]
AlphaFold Q920E3
Predicted Effect possibly damaging
Transcript: ENSMUST00000042299
AA Change: F134I

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: F134I

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
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging 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
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
R6545:Kcnh5 UTSW 12 75,054,432 (GRCm39) missense probably damaging 1.00
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'- GGCAGCCATACATGTGATAATAGG -3'
(R):5'- AGAGTCATGGAAGCTAACCCTTG -3'

Sequencing Primer
(F):5'- gaggagaaagaggCAGAT -3'
(R):5'- CATGGAAGCTAACCCTTGCTGTG -3'
Posted On 2014-10-02