Incidental Mutation 'R4619:Kcnh3'
ID 345199
Institutional Source Beutler Lab
Gene Symbol Kcnh3
Ensembl Gene ENSMUSG00000037579
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 3
Synonyms Melk2, C030044P22Rik, Elk2, ether a go-go like
MMRRC Submission 041885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4619 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99122742-99140698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99131982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 646 (V646M)
Ref Sequence ENSEMBL: ENSMUSP00000040548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041415]
AlphaFold Q9WVJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000041415
AA Change: V646M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: V646M

DomainStartEndE-ValueType
PAS 20 88 3.94e0 SMART
PAC 94 136 9.92e-6 SMART
low complexity region 148 159 N/A INTRINSIC
Pfam:Ion_trans 224 523 3.8e-34 PFAM
Pfam:Ion_trans_2 453 517 1e-12 PFAM
cNMP 593 708 2.04e-16 SMART
low complexity region 781 800 N/A INTRINSIC
low complexity region 857 872 N/A INTRINSIC
coiled coil region 886 918 N/A INTRINSIC
low complexity region 977 993 N/A INTRINSIC
low complexity region 1022 1035 N/A INTRINSIC
low complexity region 1054 1062 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230973
Meta Mutation Damage Score 0.4878 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. An increase in cognitive function was observed when this gene was knocked out, while deletion of the gene resulted in hippocampal hyperexcitability and epilepsy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,775,520 (GRCm39) V1570I probably damaging Het
Alx4 A G 2: 93,473,106 (GRCm39) R35G probably damaging Het
Apod T C 16: 31,116,211 (GRCm39) D173G probably benign Het
Atp8b3 G A 10: 80,361,858 (GRCm39) T731I possibly damaging Het
Birc6 A C 17: 74,947,145 (GRCm39) T2955P probably benign Het
Cdh15 G A 8: 123,587,612 (GRCm39) D179N probably damaging Het
Cntnap5c G T 17: 58,717,263 (GRCm39) V1282L probably benign Het
Crocc2 G A 1: 93,141,372 (GRCm39) R1175H probably benign Het
Dbh A G 2: 27,064,836 (GRCm39) D349G probably damaging Het
Dync1h1 A G 12: 110,605,278 (GRCm39) I2372V probably benign Het
Fer1l4 A T 2: 155,889,007 (GRCm39) W389R probably damaging Het
Fndc1 T C 17: 7,984,036 (GRCm39) T1297A unknown Het
Gart T C 16: 91,422,321 (GRCm39) N732S probably damaging Het
Gas2l2 T C 11: 83,313,924 (GRCm39) I463V probably benign Het
Gm5591 G A 7: 38,220,072 (GRCm39) S267L probably benign Het
Gzmk A G 13: 113,309,657 (GRCm39) V92A probably damaging Het
Hspg2 C T 4: 137,273,884 (GRCm39) R2680W probably damaging Het
Insyn2a A G 7: 134,520,270 (GRCm39) Y87H probably damaging Het
Kcnk7 A C 19: 5,756,463 (GRCm39) I230L probably benign Het
Kif3b C T 2: 153,158,594 (GRCm39) R132* probably null Het
Klra5 T C 6: 129,885,776 (GRCm39) S128G probably benign Het
Krba1 C T 6: 48,383,282 (GRCm39) R4* probably null Het
Krt1c T A 15: 101,726,026 (GRCm39) I171F probably damaging Het
Lss A G 10: 76,372,089 (GRCm39) D148G probably benign Het
Mavs G T 2: 131,082,370 (GRCm39) A85S probably damaging Het
Mipep T C 14: 61,140,865 (GRCm39) C566R probably damaging Het
Myocd T A 11: 65,069,254 (GRCm39) probably benign Het
Ndufa9 C T 6: 126,804,498 (GRCm39) probably null Het
Nolc1 G A 19: 46,071,959 (GRCm39) G583D probably damaging Het
Nucb2 T C 7: 116,127,059 (GRCm39) probably null Het
Or1i2 T C 10: 78,448,409 (GRCm39) D22G probably benign Het
Or52e19 C T 7: 102,959,165 (GRCm39) T79I probably benign Het
Or5p63 A T 7: 107,811,301 (GRCm39) I145N possibly damaging Het
Pank4 C A 4: 155,061,076 (GRCm39) D508E probably benign Het
Phb1 T A 11: 95,562,416 (GRCm39) probably benign Het
Pign T A 1: 105,449,715 (GRCm39) probably benign Het
Plec T C 15: 76,076,382 (GRCm39) K349E probably benign Het
Ppp1r3c A T 19: 36,711,743 (GRCm39) V9E possibly damaging Het
Rap1gap T A 4: 137,443,422 (GRCm39) V130D probably damaging Het
Senp3 T A 11: 69,567,944 (GRCm39) Y432F probably benign Het
Serpina3f T C 12: 104,183,549 (GRCm39) I137T possibly damaging Het
Slc46a3 T A 5: 147,823,540 (GRCm39) K101* probably null Het
Snph G A 2: 151,436,434 (GRCm39) Q96* probably null Het
Sptb A T 12: 76,630,581 (GRCm39) C2244* probably null Het
Srbd1 A T 17: 86,416,693 (GRCm39) F488L probably benign Het
Ssc5d A T 7: 4,932,524 (GRCm39) H396L probably damaging Het
Sulf1 A C 1: 12,856,876 (GRCm39) R42S probably damaging Het
Taf1a T A 1: 183,181,752 (GRCm39) probably benign Het
Thoc5 T A 11: 4,876,218 (GRCm39) M609K probably damaging Het
Tiam2 A T 17: 3,568,617 (GRCm39) I1588F probably damaging Het
Tmcc1 C T 6: 116,020,247 (GRCm39) V402I probably damaging Het
Tmprss15 T C 16: 78,818,358 (GRCm39) D524G probably damaging Het
Trbv31 T C 6: 41,534,901 (GRCm39) I21V probably benign Het
Vmn1r74 A T 7: 11,581,398 (GRCm39) T233S possibly damaging Het
Vmn1r74 G C 7: 11,581,403 (GRCm39) Q234H probably damaging Het
Vsx1 A T 2: 150,530,529 (GRCm39) S118T probably benign Het
Wnt9b G A 11: 103,621,949 (GRCm39) T236I probably benign Het
Zbtb21 T C 16: 97,751,092 (GRCm39) T1092A possibly damaging Het
Zc3hc1 G A 6: 30,387,523 (GRCm39) T52I probably benign Het
Zfp558 T A 9: 18,367,577 (GRCm39) N404Y possibly damaging Het
Zfp735 A T 11: 73,602,031 (GRCm39) D325V probably damaging Het
Zhx3 A T 2: 160,623,879 (GRCm39) M96K probably damaging Het
Other mutations in Kcnh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Kcnh3 APN 15 99,140,354 (GRCm39) missense possibly damaging 0.85
IGL00911:Kcnh3 APN 15 99,130,882 (GRCm39) nonsense probably null
IGL01099:Kcnh3 APN 15 99,137,617 (GRCm39) missense probably benign 0.02
IGL01350:Kcnh3 APN 15 99,139,873 (GRCm39) missense probably benign
IGL01375:Kcnh3 APN 15 99,124,874 (GRCm39) nonsense probably null
IGL01611:Kcnh3 APN 15 99,127,383 (GRCm39) missense probably benign 0.04
IGL01920:Kcnh3 APN 15 99,131,258 (GRCm39) missense probably benign 0.16
IGL02282:Kcnh3 APN 15 99,125,924 (GRCm39) critical splice donor site probably null
IGL02581:Kcnh3 APN 15 99,136,052 (GRCm39) missense possibly damaging 0.72
IGL02889:Kcnh3 APN 15 99,124,991 (GRCm39) missense probably null 0.82
R0427:Kcnh3 UTSW 15 99,131,180 (GRCm39) missense probably benign 0.22
R0532:Kcnh3 UTSW 15 99,130,844 (GRCm39) missense probably damaging 1.00
R0538:Kcnh3 UTSW 15 99,138,839 (GRCm39) missense probably benign 0.00
R0552:Kcnh3 UTSW 15 99,127,337 (GRCm39) missense probably damaging 1.00
R1235:Kcnh3 UTSW 15 99,139,984 (GRCm39) splice site probably null
R1290:Kcnh3 UTSW 15 99,125,001 (GRCm39) splice site probably null
R1499:Kcnh3 UTSW 15 99,137,796 (GRCm39) missense probably benign 0.00
R1517:Kcnh3 UTSW 15 99,136,090 (GRCm39) missense probably damaging 1.00
R1706:Kcnh3 UTSW 15 99,135,959 (GRCm39) missense possibly damaging 0.86
R1973:Kcnh3 UTSW 15 99,127,281 (GRCm39) missense probably damaging 1.00
R2285:Kcnh3 UTSW 15 99,139,873 (GRCm39) missense probably benign
R3196:Kcnh3 UTSW 15 99,131,862 (GRCm39) missense probably damaging 1.00
R3716:Kcnh3 UTSW 15 99,130,646 (GRCm39) missense possibly damaging 0.52
R4620:Kcnh3 UTSW 15 99,131,982 (GRCm39) missense probably damaging 1.00
R4624:Kcnh3 UTSW 15 99,124,253 (GRCm39) missense probably damaging 1.00
R4701:Kcnh3 UTSW 15 99,139,826 (GRCm39) missense probably benign
R4853:Kcnh3 UTSW 15 99,139,970 (GRCm39) missense possibly damaging 0.56
R4869:Kcnh3 UTSW 15 99,139,913 (GRCm39) missense probably benign 0.06
R4991:Kcnh3 UTSW 15 99,130,637 (GRCm39) missense probably benign 0.00
R5004:Kcnh3 UTSW 15 99,124,383 (GRCm39) nonsense probably null
R5296:Kcnh3 UTSW 15 99,139,820 (GRCm39) missense probably null 0.92
R5317:Kcnh3 UTSW 15 99,125,822 (GRCm39) missense probably benign
R5338:Kcnh3 UTSW 15 99,140,275 (GRCm39) nonsense probably null
R5658:Kcnh3 UTSW 15 99,139,957 (GRCm39) missense possibly damaging 0.77
R5794:Kcnh3 UTSW 15 99,130,855 (GRCm39) missense probably benign 0.01
R5934:Kcnh3 UTSW 15 99,124,414 (GRCm39) missense possibly damaging 0.46
R6303:Kcnh3 UTSW 15 99,124,919 (GRCm39) missense probably benign 0.37
R6304:Kcnh3 UTSW 15 99,124,919 (GRCm39) missense probably benign 0.37
R6385:Kcnh3 UTSW 15 99,125,822 (GRCm39) missense probably benign
R6466:Kcnh3 UTSW 15 99,136,124 (GRCm39) missense probably damaging 1.00
R6640:Kcnh3 UTSW 15 99,139,649 (GRCm39) missense probably benign 0.08
R6879:Kcnh3 UTSW 15 99,136,048 (GRCm39) missense probably damaging 1.00
R6984:Kcnh3 UTSW 15 99,126,433 (GRCm39) missense probably benign 0.00
R7770:Kcnh3 UTSW 15 99,131,147 (GRCm39) missense probably damaging 1.00
R8354:Kcnh3 UTSW 15 99,127,211 (GRCm39) missense probably damaging 1.00
R8427:Kcnh3 UTSW 15 99,124,934 (GRCm39) missense probably benign 0.00
R8486:Kcnh3 UTSW 15 99,136,091 (GRCm39) missense probably damaging 1.00
R9080:Kcnh3 UTSW 15 99,139,667 (GRCm39) missense probably damaging 1.00
R9339:Kcnh3 UTSW 15 99,130,786 (GRCm39) missense probably damaging 1.00
RF006:Kcnh3 UTSW 15 99,137,809 (GRCm39) critical splice donor site probably null
X0028:Kcnh3 UTSW 15 99,139,981 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCGTGCAGACATCGCCATG -3'
(R):5'- ATCACTGGCTCATCTTTGAACTTTG -3'

Sequencing Primer
(F):5'- GACATCGCCATGCACCTG -3'
(R):5'- AACTTTGTCTAGAGCTCTGGC -3'
Posted On 2015-09-25