Incidental Mutation 'R2483:Kcnh5'
ID 250701
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 040407-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2483 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 74943994-75224106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75161245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 221 (I221N)
Ref Sequence ENSEMBL: ENSMUSP00000046864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042299]
AlphaFold Q920E3
Predicted Effect probably damaging
Transcript: ENSMUST00000042299
AA Change: I221N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: I221N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adpgk G A 9: 59,221,036 (GRCm39) V281I probably benign Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd13d T C 19: 4,331,968 (GRCm39) E110G probably damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Ano6 A T 15: 95,863,855 (GRCm39) T792S probably benign Het
Atm A T 9: 53,421,566 (GRCm39) V715D probably damaging Het
Avl9 A G 6: 56,713,828 (GRCm39) D362G probably benign Het
Bin1 T A 18: 32,547,280 (GRCm39) S152R probably damaging Het
Bscl2 T A 19: 8,818,514 (GRCm39) C40S probably benign Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Btrc A G 19: 45,504,497 (GRCm39) D397G probably damaging Het
Cables2 A T 2: 179,902,222 (GRCm39) V379E probably damaging Het
Cacna2d2 T C 9: 107,389,221 (GRCm39) L228P probably damaging Het
Cd109 A T 9: 78,574,639 (GRCm39) D541V probably damaging Het
Cdh26 A T 2: 178,108,382 (GRCm39) S327C probably damaging Het
Cep78 T C 19: 15,938,344 (GRCm39) K535E probably damaging Het
Ces1a A G 8: 93,753,969 (GRCm39) Y345H probably damaging Het
Col6a5 C A 9: 105,741,347 (GRCm39) R2524I probably damaging Het
Cracd A T 5: 77,004,256 (GRCm39) I206F probably damaging Het
Dctn1 G A 6: 83,171,169 (GRCm39) R661H probably damaging Het
Ddias T C 7: 92,508,800 (GRCm39) T372A probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Emx1 T C 6: 85,165,237 (GRCm39) S105P probably benign Het
Ep400 T C 5: 110,867,102 (GRCm39) Y1014C unknown Het
Fam193a A T 5: 34,623,102 (GRCm39) K1230M possibly damaging Het
Fgf9 A G 14: 58,347,028 (GRCm39) Q207R probably benign Het
Gm5460 G A 14: 33,767,775 (GRCm39) C461Y possibly damaging Het
Gpc1 T C 1: 92,783,660 (GRCm39) I249T probably benign Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igfn1 T C 1: 135,897,275 (GRCm39) E1097G probably benign Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Kyat1 T C 2: 30,076,710 (GRCm39) H218R possibly damaging Het
Lamb2 T G 9: 108,357,758 (GRCm39) C94G probably damaging Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Myh1 A T 11: 67,102,052 (GRCm39) M811L probably benign Het
Myh7 T C 14: 55,210,838 (GRCm39) E1693G probably damaging Het
Myo15b A G 11: 115,755,565 (GRCm39) T979A probably benign Het
Myo18b A T 5: 113,006,274 (GRCm39) C879S probably damaging Het
Myom1 A G 17: 71,384,807 (GRCm39) T733A probably damaging Het
Ndufa9 A T 6: 126,821,362 (GRCm39) M76K possibly damaging Het
Nectin3 A G 16: 46,215,542 (GRCm39) C74R possibly damaging Het
Obscn A G 11: 58,970,972 (GRCm39) F2514L probably damaging Het
Or4a69 G A 2: 89,313,471 (GRCm39) Q3* probably null Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
P2ry2 A T 7: 100,647,706 (GRCm39) S200T probably benign Het
Pcdha5 G T 18: 37,094,542 (GRCm39) M350I probably benign Het
Pcdha5 G A 18: 37,094,834 (GRCm39) V448M probably damaging Het
Pex12 C T 11: 83,188,455 (GRCm39) R180H possibly damaging Het
Pip4p1 C G 14: 51,167,749 (GRCm39) V59L probably damaging Het
Pkd1l1 A T 11: 8,912,701 (GRCm39) V168E probably damaging Het
Prokr2 T A 2: 132,223,095 (GRCm39) D149V probably damaging Het
Rnf123 A G 9: 107,940,720 (GRCm39) V707A probably benign Het
Ryr2 T C 13: 11,774,589 (GRCm39) E1189G probably damaging Het
Scarf1 T C 11: 75,406,117 (GRCm39) F134L probably damaging Het
Sfxn5 A G 6: 85,309,260 (GRCm39) probably null Het
Shfl A T 9: 20,784,473 (GRCm39) I186F possibly damaging Het
Skic3 A G 13: 76,330,986 (GRCm39) E1472G probably damaging Het
Slc17a5 A T 9: 78,445,556 (GRCm39) V433D probably damaging Het
Snapc1 A G 12: 74,011,417 (GRCm39) T28A probably benign Het
Soat1 T C 1: 156,258,669 (GRCm39) Y528C probably damaging Het
Spem1 G A 11: 69,712,344 (GRCm39) R107C possibly damaging Het
Srcap T C 7: 127,141,319 (GRCm39) S1639P probably damaging Het
Sycp2 A T 2: 178,016,388 (GRCm39) N691K probably damaging Het
Syne2 A T 12: 76,142,311 (GRCm39) I6183F probably damaging Het
Tas2r110 A T 6: 132,845,433 (GRCm39) M155L probably benign Het
Tenm3 G A 8: 48,693,305 (GRCm39) T1859I probably damaging Het
Thsd7b T A 1: 130,030,809 (GRCm39) V1048D probably damaging Het
Vav3 T C 3: 109,248,482 (GRCm39) L43P probably damaging Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Vps13c T A 9: 67,883,189 (GRCm39) probably null Het
Vps37c T A 19: 10,683,569 (GRCm39) probably null Het
Wwp2 A G 8: 108,275,167 (GRCm39) D388G probably damaging Het
Xirp2 A T 2: 67,355,336 (GRCm39) T3366S probably benign Het
Zbtb49 A C 5: 38,360,701 (GRCm39) 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
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'- TAAGCTTCGGGTCAGAAATGAC -3'
(R):5'- ATCATGTGACTCGGTCTGTG -3'

Sequencing Primer
(F):5'- ATGACCTCTCCACCCGG -3'
(R):5'- ATCATGTGACTCGGTCTGTGATTGG -3'
Posted On 2014-12-04