Incidental Mutation 'R6135:Kcnh2'
ID 488285
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 044282-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.681) question?
Stock # R6135 (G1)
Quality Score 203.009
Status Validated
Chromosome 5
Chromosomal Location 24524587-24556602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24526791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1002 (S1002C)
Ref Sequence ENSEMBL: ENSMUSP00000047705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036092] [ENSMUST00000115098]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036092
AA Change: S1002C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: S1002C

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 damaging
Transcript: ENSMUST00000115098
AA Change: S660C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: S660C

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: ENSMUST00000126791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142197
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 100% (55/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,402,335 (GRCm39) E95G probably damaging Het
Abca4 C T 3: 121,932,096 (GRCm39) T250I possibly damaging Het
Ahi1 G A 10: 20,845,020 (GRCm39) R375H probably benign Het
Aimp1 T C 3: 132,377,844 (GRCm39) K174E probably benign Het
Aire A G 10: 77,878,801 (GRCm39) L82P probably damaging Het
Akap13 T A 7: 75,259,656 (GRCm39) V760D possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Carf C T 1: 60,187,122 (GRCm39) S540F probably damaging Het
Ccdc171 T A 4: 83,473,087 (GRCm39) M172K probably benign Het
Chpt1 A T 10: 88,318,145 (GRCm39) V199E possibly damaging Het
Cldn16 G A 16: 26,293,018 (GRCm39) D65N possibly damaging Het
Cnga3 G A 1: 37,271,318 (GRCm39) probably benign Het
Col14a1 A G 15: 55,244,246 (GRCm39) T440A unknown Het
Creb3l3 A G 10: 80,921,552 (GRCm39) I331T probably benign Het
Cul9 T C 17: 46,832,379 (GRCm39) T1410A probably benign Het
Dnm1 T A 2: 32,223,075 (GRCm39) probably null Het
Fhl5 A T 4: 25,214,716 (GRCm39) Y20* probably null Het
Fignl1 T C 11: 11,752,557 (GRCm39) D166G probably benign Het
Ghr T C 15: 3,355,447 (GRCm39) I279V probably benign Het
Gm1979 T G 5: 26,205,298 (GRCm39) S180R probably damaging Het
Hydin T C 8: 111,189,292 (GRCm39) V1232A possibly damaging Het
Ifnar1 A G 16: 91,298,508 (GRCm39) probably null Het
Inpp5d A G 1: 87,548,119 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Krt87 T A 15: 101,385,415 (GRCm39) E319V probably damaging Het
Lbp A G 2: 158,159,469 (GRCm39) I201V probably benign Het
Man1a2 G A 3: 100,592,248 (GRCm39) probably benign Het
Myh8 A G 11: 67,188,326 (GRCm39) T996A possibly damaging Het
Nat10 A G 2: 103,573,661 (GRCm39) L319P probably damaging Het
Nelfa A G 5: 34,056,620 (GRCm39) probably null Het
Or5b97 A C 19: 12,878,803 (GRCm39) Y114D probably damaging Het
Pcdha11 T A 18: 37,138,870 (GRCm39) N166K probably damaging Het
Pcdha6 C A 18: 37,102,269 (GRCm39) N487K probably damaging Het
Pcsk2 A G 2: 143,415,460 (GRCm39) D91G possibly damaging Het
Pigp A G 16: 94,171,065 (GRCm39) F22L probably benign Het
Pnpla8 A C 12: 44,329,670 (GRCm39) N74T probably benign Het
Ppargc1b T C 18: 61,448,980 (GRCm39) K114R probably damaging Het
Ppfia2 A G 10: 106,693,430 (GRCm39) D645G probably damaging Het
Rnf213 G A 11: 119,332,854 (GRCm39) V2688I probably benign Het
Rnf43 A G 11: 87,622,951 (GRCm39) H557R probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Rrp9 G A 9: 106,360,221 (GRCm39) D210N probably damaging Het
Scin G T 12: 40,129,807 (GRCm39) Q329K possibly damaging Het
Scn7a T A 2: 66,534,244 (GRCm39) H477L probably benign Het
Slc26a8 A T 17: 28,888,914 (GRCm39) M195K probably benign Het
Spata13 A G 14: 60,993,877 (GRCm39) K1110E probably damaging Het
Spata24 T A 18: 35,793,503 (GRCm39) E103V probably damaging Het
Srek1 T C 13: 103,910,894 (GRCm39) N25S probably damaging Het
Strada T C 11: 106,064,140 (GRCm39) Y59C probably damaging Het
Tnrc6c T C 11: 117,626,831 (GRCm39) W1143R probably damaging Het
Trip12 A T 1: 84,738,559 (GRCm39) D765E probably benign Het
Ttbk2 G A 2: 120,580,798 (GRCm39) R444C probably damaging Het
Ush2a T A 1: 188,644,303 (GRCm39) I4555N possibly damaging Het
Vcan C T 13: 89,838,045 (GRCm39) E2500K probably benign Het
Vps16 A G 2: 130,280,573 (GRCm39) Y200C possibly damaging Het
Wdfy4 T A 14: 32,693,668 (GRCm39) H2719L probably damaging Het
Zfhx2 T C 14: 55,311,653 (GRCm39) D347G possibly damaging Het
Zfp653 G A 9: 21,969,558 (GRCm39) T236I probably damaging Het
Zscan4-ps1 A T 7: 10,799,913 (GRCm39) H325Q 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
R6280:Kcnh2 UTSW 5 24,536,921 (GRCm39) missense probably benign 0.43
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'- TGGCACAGACAGTCCTAGAC -3'
(R):5'- AGCCTTTGACAGAGGATGGG -3'

Sequencing Primer
(F):5'- AGTTCCCCCACAGTGCAG -3'
(R):5'- GAAAAGTGACACCTGTAATCCCTTG -3'
Posted On 2017-10-10