Incidental Mutation 'R1608:Kcnh2'
ID 176615
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 039645-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.681) question?
Stock # R1608 (G1)
Quality Score 82
Status Not validated
Chromosome 5
Chromosomal Location 24524587-24556602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24527217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 559 (T559A)
Ref Sequence ENSEMBL: ENSMUSP00000110750 (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: T901A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: T901A

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
AA Change: T559A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: T559A

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,813,775 (GRCm39) S797P probably damaging Het
Akap9 T C 5: 4,011,783 (GRCm39) Y829H probably damaging Het
Anp32a A G 9: 62,279,375 (GRCm39) D74G probably damaging Het
B3gat1 T C 9: 26,663,112 (GRCm39) I13T probably damaging Het
Cbfa2t3 A T 8: 123,374,448 (GRCm39) V99D probably damaging Het
Celsr2 C T 3: 108,309,799 (GRCm39) C1600Y probably damaging Het
Ddx31 T A 2: 28,749,078 (GRCm39) N291K probably damaging Het
Dennd1a T G 2: 37,742,446 (GRCm39) M3L probably benign Het
Dnah12 C T 14: 26,488,147 (GRCm39) P1017L probably damaging Het
Dnajc6 A T 4: 101,456,364 (GRCm39) D86V probably damaging Het
Evx2 T G 2: 74,488,195 (GRCm39) K208N probably damaging Het
F13a1 A G 13: 37,052,785 (GRCm39) V718A probably damaging Het
Fcho2 T C 13: 98,862,706 (GRCm39) D757G probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fryl C T 5: 73,232,094 (GRCm39) W424* probably null Het
Gata3 G T 2: 9,879,579 (GRCm39) Y97* probably null Het
Gm15446 T A 5: 110,090,323 (GRCm39) C192S probably damaging Het
Hdac10 A T 15: 89,009,521 (GRCm39) D470E probably benign Het
Ier2 A G 8: 85,389,055 (GRCm39) L109P probably benign Het
Iftap T C 2: 101,440,916 (GRCm39) E29G probably damaging Het
Khk C T 5: 31,087,938 (GRCm39) A204V probably damaging Het
Kndc1 T A 7: 139,507,321 (GRCm39) M1169K possibly damaging Het
Krtap31-1 A G 11: 99,798,919 (GRCm39) S41G probably benign Het
Nabp1 T C 1: 51,512,162 (GRCm39) probably null Het
Nphp3 A G 9: 103,913,039 (GRCm39) D939G probably benign Het
Or5e1 A T 7: 108,354,309 (GRCm39) N82I probably damaging Het
Plcg2 T C 8: 118,340,974 (GRCm39) I1089T possibly damaging Het
Ptk2 A T 15: 73,134,424 (GRCm39) D558E probably damaging Het
Serpinb6d A G 13: 33,853,112 (GRCm39) D168G probably benign Het
Shisa8 G A 15: 82,092,756 (GRCm39) P189L probably damaging Het
Shkbp1 A G 7: 27,054,204 (GRCm39) V89A probably benign Het
Slc40a1 C T 1: 45,950,457 (GRCm39) A332T probably damaging Het
Slc44a3 A T 3: 121,291,496 (GRCm39) Y373* probably null Het
Slf2 T C 19: 44,937,440 (GRCm39) V722A probably benign Het
Spanxn4 A G 12: 62,734,624 (GRCm39) noncoding transcript Het
Stag3 T A 5: 138,296,901 (GRCm39) probably null Het
Tanc1 T C 2: 59,628,038 (GRCm39) I612T possibly damaging Het
Thbs2 T A 17: 14,906,043 (GRCm39) M286L probably benign Het
Top1 T A 2: 160,545,515 (GRCm39) N294K probably benign Het
Tpr T G 1: 150,302,644 (GRCm39) L1381V probably damaging Het
Trpm8 T G 1: 88,254,154 (GRCm39) S126A probably benign Het
Ttc41 A G 10: 86,611,857 (GRCm39) Y1075C probably damaging Het
Ubox5 C T 2: 130,439,376 (GRCm39) G418D probably benign Het
Vmn1r67 T C 7: 10,180,907 (GRCm39) V57A possibly damaging Het
Zbtb5 T C 4: 44,993,500 (GRCm39) H628R probably damaging Het
Zfp810 T C 9: 22,190,216 (GRCm39) I231V 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
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
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'- TATTGGACACCCCAGAGAAGGCAC -3'
(R):5'- ATGCCTCCCTTCCACTGGACAAAG -3'

Sequencing Primer
(F):5'- GGCCTACCTGACAAGGGATTAC -3'
(R):5'- GGCGCGAGATAAAACAACTTTG -3'
Posted On 2014-04-24