Incidental Mutation 'R8018:Kcnh2'
| ID |
617206 |
| 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 |
067458-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.681)
|
| Stock # |
R8018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24525014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1158
(S1158L)
|
| 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: S1158L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: S1158L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000115098
AA Change: S816L
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: S816L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (45/46) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,880,991 (GRCm39) |
T146I |
unknown |
Het |
| Abca16 |
A |
G |
7: 120,132,866 (GRCm39) |
E1265G |
probably benign |
Het |
| Adar |
T |
C |
3: 89,654,882 (GRCm39) |
S924P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,814,003 (GRCm39) |
L392Q |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,771,260 (GRCm39) |
D985G |
possibly damaging |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,095 (GRCm39) |
K280R |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,598 (GRCm39) |
|
probably benign |
Het |
| Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
| Elfn2 |
A |
G |
15: 78,557,968 (GRCm39) |
L193P |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,166,933 (GRCm39) |
L20* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,684,948 (GRCm39) |
D501G |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,268,143 (GRCm39) |
E399G |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,184,737 (GRCm39) |
E356G |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,639 (GRCm39) |
|
probably null |
Het |
| Lancl2 |
A |
G |
6: 57,690,078 (GRCm39) |
T104A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mthfd2l |
T |
A |
5: 91,107,672 (GRCm39) |
I178N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,225 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,006 (GRCm39) |
K564* |
probably null |
Het |
| Nipal3 |
C |
T |
4: 135,174,659 (GRCm39) |
R364H |
possibly damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,038 (GRCm39) |
M1V |
probably null |
Het |
| Oxa1l |
A |
G |
14: 54,600,757 (GRCm39) |
I77V |
not run |
Het |
| Phf10 |
T |
A |
17: 15,174,378 (GRCm39) |
Q233H |
possibly damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,654 (GRCm39) |
N288K |
probably benign |
Het |
| Pramel43 |
T |
C |
5: 94,761,839 (GRCm39) |
N244S |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,182,311 (GRCm39) |
D1676G |
probably damaging |
Het |
| Rapgefl1 |
T |
G |
11: 98,731,166 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
C |
T |
15: 83,001,125 (GRCm39) |
E269K |
possibly damaging |
Het |
| Ryr3 |
A |
C |
2: 112,508,777 (GRCm39) |
M3399R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,587,829 (GRCm39) |
R762L |
probably damaging |
Het |
| Smad7 |
T |
G |
18: 75,502,355 (GRCm39) |
L110R |
possibly damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tcea3 |
T |
G |
4: 135,985,229 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,999,180 (GRCm39) |
V765A |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,010,822 (GRCm39) |
R1130W |
probably damaging |
Het |
| Tia1 |
C |
T |
6: 86,402,034 (GRCm39) |
P189S |
probably benign |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ubxn8 |
A |
G |
8: 34,113,243 (GRCm39) |
C204R |
probably damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,810 (GRCm39) |
S135P |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,124,492 (GRCm39) |
L473H |
probably damaging |
Het |
| Zfp444 |
A |
G |
7: 6,191,142 (GRCm39) |
T108A |
probably benign |
Het |
|
| Other mutations in Kcnh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- CAGTTAGACCAGCTAATGCCC -3'
(R):5'- TGAGTGCCTTCTCAAGCTC -3'
Sequencing Primer
(F):5'- GACCAGCTAATGCCCCCAGG -3'
(R):5'- AGTGCCTTCTCAAGCTCTGTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation