Incidental Mutation 'R0427:Kcnh3'
ID 38783
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 038629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0427 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99122742-99140698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99131180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 518 (M518L)
Ref Sequence ENSEMBL: ENSMUSP00000040548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041415]
AlphaFold Q9WVJ0
Predicted Effect probably benign
Transcript: ENSMUST00000041415
AA Change: M518L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: M518L

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: ENSMUST00000228983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230973
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T G 8: 44,105,493 (GRCm39) T51P probably benign Het
Alpk1 A T 3: 127,464,720 (GRCm39) V1186E probably damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Armc2 A G 10: 41,876,406 (GRCm39) I127T possibly damaging Het
Atp6v1b2 T C 8: 69,554,084 (GRCm39) L87P probably damaging Het
Atp9a T A 2: 168,482,617 (GRCm39) probably null Het
BC048679 C G 7: 81,144,993 (GRCm39) V123L probably benign Het
Birc7 G A 2: 180,571,307 (GRCm39) probably null Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cacna1d T A 14: 30,068,774 (GRCm39) N155I probably damaging Het
Cd300lg T C 11: 101,933,852 (GRCm39) V33A probably damaging Het
Cep290 A G 10: 100,352,041 (GRCm39) D742G probably benign Het
Cep95 A G 11: 106,681,578 (GRCm39) N14S probably benign Het
Cfap74 A T 4: 155,525,734 (GRCm39) M728L probably benign Het
Ctsll3 T A 13: 60,949,205 (GRCm39) T9S probably benign Het
Cyp3a44 A G 5: 145,716,412 (GRCm39) S393P possibly damaging Het
Dmbt1 T A 7: 130,642,632 (GRCm39) L150* probably null Het
Dnah2 A G 11: 69,343,705 (GRCm39) I2868T probably damaging Het
Dop1a A G 9: 86,389,585 (GRCm39) H505R probably damaging Het
Exo1 A G 1: 175,733,519 (GRCm39) K781R probably damaging Het
Fam184a A G 10: 53,566,211 (GRCm39) Y459H probably damaging Het
Foxp1 C T 6: 98,907,164 (GRCm39) D540N probably damaging Het
Fstl5 T A 3: 76,615,034 (GRCm39) Y698* probably null Het
Gm5141 T C 13: 62,922,525 (GRCm39) K215E probably damaging Het
Grik5 C A 7: 24,757,923 (GRCm39) R386L probably benign Het
Ikbke A T 1: 131,185,647 (GRCm39) S620R possibly damaging Het
Lrrcc1 G T 3: 14,623,416 (GRCm39) A748S probably damaging Het
Mbd5 T G 2: 49,169,091 (GRCm39) S1191A probably benign Het
Med27 T C 2: 29,390,283 (GRCm39) I70T probably damaging Het
Mplkipl1 A G 19: 61,163,908 (GRCm39) Y176H probably damaging Het
Myh4 A G 11: 67,149,479 (GRCm39) D1737G probably damaging Het
Myo5a A G 9: 75,081,478 (GRCm39) D1021G probably benign Het
Ncor1 T C 11: 62,301,746 (GRCm39) E212G probably damaging Het
Neb A T 2: 52,133,896 (GRCm39) N3362K possibly damaging Het
Neb A G 2: 52,134,081 (GRCm39) S3301P probably damaging Het
Neurod1 T G 2: 79,284,526 (GRCm39) K286Q probably damaging Het
Noc3l T C 19: 38,778,095 (GRCm39) Q773R probably benign Het
Nup205 T A 6: 35,171,398 (GRCm39) N420K probably benign Het
Olfml3 A T 3: 103,644,330 (GRCm39) V113E probably benign Het
Opa1 T C 16: 29,430,279 (GRCm39) V439A probably damaging Het
Or13c7 A G 4: 43,854,417 (GRCm39) Y36C probably damaging Het
Or14j7 A T 17: 38,234,520 (GRCm39) H21L probably benign Het
Or1j14 C T 2: 36,417,994 (GRCm39) S190L probably damaging Het
Or1o11 T A 17: 37,756,593 (GRCm39) D60E probably damaging Het
Pcdhb11 T C 18: 37,555,818 (GRCm39) S383P probably damaging Het
Pkd1 T C 17: 24,812,476 (GRCm39) V3803A probably damaging Het
Plekhg1 A G 10: 3,914,235 (GRCm39) D1319G probably benign Het
Polq T A 16: 36,882,355 (GRCm39) C1227* probably null Het
Pramel22 A T 4: 143,380,993 (GRCm39) N343K probably benign Het
Psmc1 T C 12: 100,085,487 (GRCm39) F283L probably damaging Het
Psmd8 T C 7: 28,875,552 (GRCm39) N189S probably damaging Het
Ptger4 G A 15: 5,272,382 (GRCm39) T104I probably benign Het
Ptpro T G 6: 137,345,294 (GRCm39) V100G possibly damaging Het
Rab11fip1 T A 8: 27,644,520 (GRCm39) T422S probably damaging Het
Rad54l2 A G 9: 106,570,891 (GRCm39) L1143P possibly damaging Het
Rnf148 A G 6: 23,654,072 (GRCm39) M308T probably damaging Het
Sbsn T A 7: 30,451,523 (GRCm39) probably benign Het
Scube2 T A 7: 109,424,044 (GRCm39) T487S probably benign Het
Sema4c C A 1: 36,592,892 (GRCm39) E109* probably null Het
Sipa1l2 A T 8: 126,207,071 (GRCm39) L544Q probably damaging Het
Slc28a2 A G 2: 122,288,702 (GRCm39) T603A probably benign Het
Tbc1d7 T A 13: 43,306,563 (GRCm39) T138S probably benign Het
Timd4 A T 11: 46,710,084 (GRCm39) T239S probably benign Het
Trp53bp1 A G 2: 121,066,498 (GRCm39) S743P probably damaging Het
Tspan10 T A 11: 120,335,120 (GRCm39) Y77N probably damaging Het
Ttc14 T C 3: 33,857,633 (GRCm39) S245P probably damaging Het
Ttf1 T A 2: 28,955,054 (GRCm39) S139R probably benign Het
Tubd1 C A 11: 86,448,616 (GRCm39) Q279K possibly damaging Het
Twnk A G 19: 44,996,026 (GRCm39) E153G probably benign Het
Ush2a A G 1: 188,132,478 (GRCm39) D900G probably damaging Het
Usp54 A G 14: 20,620,432 (GRCm39) V691A probably benign Het
Usp8 T C 2: 126,559,952 (GRCm39) probably benign Het
Vmn1r231 C T 17: 21,110,490 (GRCm39) V142I probably benign Het
Vmn2r15 C T 5: 109,434,953 (GRCm39) A584T probably damaging Het
Vmn2r6 A G 3: 64,467,008 (GRCm39) S164P probably damaging Het
Vps16 A G 2: 130,280,770 (GRCm39) Y233C probably benign Het
Vwf C G 6: 125,650,902 (GRCm39) H2511D probably benign Het
Wipf3 T G 6: 54,460,882 (GRCm39) L110R possibly damaging Het
Zfp945 T A 17: 23,084,226 (GRCm39) N11I probably benign 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
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
R4619:Kcnh3 UTSW 15 99,131,982 (GRCm39) missense probably damaging 1.00
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'- CCATCTGCACCATGCTTATCGGAG -3'
(R):5'- CAAACCCCTGGAGGATGTCAAAGTC -3'

Sequencing Primer
(F):5'- CAACTGGAGATCTAGGGTCTACC -3'
(R):5'- TGTCAAAGTCTAGAAGCAGCC -3'
Posted On 2013-05-23