Incidental Mutation 'R6280:Kcnh2'
ID 507887
Institutional Source Beutler Lab
Gene Symbol Kcnh2
Ensembl Gene ENSMUSG00000038319
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 2
Synonyms LQT, merg1b, merg1a, ether a go-go related, M-erg, ERG1, Lqt2
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.681) question?
Stock # R6280 (G1)
Quality Score 191.009
Status Validated
Chromosome 5
Chromosomal Location 24524587-24556602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24536921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 221 (H221L)
Ref Sequence ENSEMBL: ENSMUSP00000047705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036092] [ENSMUST00000115098]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036092
AA Change: H221L

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: H221L

DomainStartEndE-ValueType
PAS 13 87 9.54e0 SMART
PAC 93 135 1.31e-5 SMART
low complexity region 194 199 N/A INTRINSIC
Pfam:Ion_trans 409 673 7.8e-38 PFAM
Pfam:Ion_trans_2 600 667 3.2e-13 PFAM
cNMP 744 862 1.15e-24 SMART
low complexity region 885 896 N/A INTRINSIC
low complexity region 925 956 N/A INTRINSIC
low complexity region 965 982 N/A INTRINSIC
coiled coil region 1035 1069 N/A INTRINSIC
low complexity region 1082 1108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115098
SMART Domains Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319

DomainStartEndE-ValueType
Pfam:Ion_trans 114 319 1.4e-22 PFAM
Pfam:Ion_trans_2 257 325 2.9e-14 PFAM
cNMP 402 520 1.15e-24 SMART
low complexity region 543 554 N/A INTRINSIC
low complexity region 583 614 N/A INTRINSIC
low complexity region 623 640 N/A INTRINSIC
coiled coil region 693 727 N/A INTRINSIC
low complexity region 740 766 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144193
Meta Mutation Damage Score 0.0658 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Kcnh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Kcnh2 APN 5 24,529,964 (GRCm39) missense probably damaging 1.00
IGL01536:Kcnh2 APN 5 24,531,522 (GRCm39) missense probably damaging 1.00
IGL02305:Kcnh2 APN 5 24,527,658 (GRCm39) missense possibly damaging 0.86
IGL02379:Kcnh2 APN 5 24,531,636 (GRCm39) missense probably damaging 1.00
IGL03100:Kcnh2 APN 5 24,527,682 (GRCm39) missense probably damaging 1.00
IGL03326:Kcnh2 APN 5 24,531,411 (GRCm39) missense probably damaging 1.00
R0077:Kcnh2 UTSW 5 24,527,700 (GRCm39) missense probably benign 0.11
R0349:Kcnh2 UTSW 5 24,556,235 (GRCm39) missense probably benign 0.18
R0959:Kcnh2 UTSW 5 24,527,670 (GRCm39) missense probably damaging 1.00
R0960:Kcnh2 UTSW 5 24,527,670 (GRCm39) missense probably damaging 1.00
R0963:Kcnh2 UTSW 5 24,527,670 (GRCm39) missense probably damaging 1.00
R1130:Kcnh2 UTSW 5 24,536,823 (GRCm39) nonsense probably null
R1147:Kcnh2 UTSW 5 24,529,385 (GRCm39) missense probably damaging 1.00
R1147:Kcnh2 UTSW 5 24,529,385 (GRCm39) missense probably damaging 1.00
R1201:Kcnh2 UTSW 5 24,527,670 (GRCm39) missense probably damaging 1.00
R1346:Kcnh2 UTSW 5 24,527,658 (GRCm39) missense possibly damaging 0.86
R1608:Kcnh2 UTSW 5 24,527,217 (GRCm39) missense probably benign
R1613:Kcnh2 UTSW 5 24,527,760 (GRCm39) splice site probably benign
R1797:Kcnh2 UTSW 5 24,527,670 (GRCm39) missense probably damaging 1.00
R2006:Kcnh2 UTSW 5 24,531,568 (GRCm39) missense probably damaging 1.00
R2312:Kcnh2 UTSW 5 24,529,952 (GRCm39) critical splice donor site probably null
R2435:Kcnh2 UTSW 5 24,531,345 (GRCm39) critical splice donor site probably null
R4623:Kcnh2 UTSW 5 24,553,440 (GRCm39) missense probably benign 0.00
R4941:Kcnh2 UTSW 5 24,536,085 (GRCm39) missense probably damaging 0.98
R5394:Kcnh2 UTSW 5 24,537,039 (GRCm39) missense probably benign
R5467:Kcnh2 UTSW 5 24,531,765 (GRCm39) nonsense probably null
R6127:Kcnh2 UTSW 5 24,530,001 (GRCm39) missense probably damaging 1.00
R6135:Kcnh2 UTSW 5 24,526,791 (GRCm39) missense probably damaging 1.00
R6936:Kcnh2 UTSW 5 24,529,337 (GRCm39) missense probably damaging 1.00
R7061:Kcnh2 UTSW 5 24,536,920 (GRCm39) missense probably benign 0.01
R7136:Kcnh2 UTSW 5 24,537,989 (GRCm39) missense probably benign 0.13
R7399:Kcnh2 UTSW 5 24,527,057 (GRCm39) missense probably damaging 0.99
R7479:Kcnh2 UTSW 5 24,530,490 (GRCm39) critical splice donor site probably null
R7860:Kcnh2 UTSW 5 24,529,561 (GRCm39) missense probably damaging 1.00
R7950:Kcnh2 UTSW 5 24,538,034 (GRCm39) missense probably benign 0.31
R8018:Kcnh2 UTSW 5 24,525,014 (GRCm39) missense probably damaging 0.98
R8063:Kcnh2 UTSW 5 24,526,670 (GRCm39) missense probably benign 0.20
R8517:Kcnh2 UTSW 5 24,531,636 (GRCm39) missense probably damaging 1.00
R8681:Kcnh2 UTSW 5 24,536,981 (GRCm39) missense probably benign 0.03
R8992:Kcnh2 UTSW 5 24,536,868 (GRCm39) missense probably benign 0.00
R9260:Kcnh2 UTSW 5 24,528,069 (GRCm39) missense probably damaging 1.00
R9348:Kcnh2 UTSW 5 24,538,003 (GRCm39) missense probably damaging 1.00
R9349:Kcnh2 UTSW 5 24,538,003 (GRCm39) missense probably damaging 1.00
R9416:Kcnh2 UTSW 5 24,537,964 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTGCCTCAATGTCATCCGCG -3'
(R):5'- CCAAGACTTTCCGCCTGAAG -3'

Sequencing Primer
(F):5'- TTAAGGCTCTGAGCTCGT -3'
(R):5'- TGAAGCTGCCTGCCTTG -3'
Posted On 2018-03-15