Incidental Mutation 'R9349:Kcnh2'
ID |
707959 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.708)
|
Stock # |
R9349 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24538003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 120
(G120E)
|
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: G120E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047705 Gene: ENSMUSG00000038319 AA Change: G120E
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 |
probably benign
Transcript: ENSMUST00000115098
|
SMART Domains |
Protein: ENSMUSP00000110750 Gene: ENSMUSG00000038319
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A230072I06Rik |
A |
G |
8: 12,329,665 (GRCm39) |
Q40R |
unknown |
Het |
A730015C16Rik |
C |
T |
4: 108,705,053 (GRCm39) |
V89I |
unknown |
Het |
Adam19 |
G |
T |
11: 46,022,570 (GRCm39) |
E508* |
probably null |
Het |
Arhgef33 |
C |
T |
17: 80,644,736 (GRCm39) |
Q22* |
probably null |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Astn2 |
T |
A |
4: 66,184,492 (GRCm39) |
T202S |
unknown |
Het |
Bpifb5 |
T |
A |
2: 154,067,005 (GRCm39) |
L86Q |
possibly damaging |
Het |
Brpf3 |
G |
A |
17: 29,040,276 (GRCm39) |
S899N |
probably benign |
Het |
Ccl20 |
T |
C |
1: 83,095,586 (GRCm39) |
F49S |
|
Het |
Ctse |
A |
G |
1: 131,592,111 (GRCm39) |
T146A |
probably benign |
Het |
Dhx35 |
T |
C |
2: 158,671,444 (GRCm39) |
S292P |
possibly damaging |
Het |
Fut7 |
C |
T |
2: 25,314,993 (GRCm39) |
P84S |
possibly damaging |
Het |
Gm9736 |
A |
C |
10: 77,586,393 (GRCm39) |
S266A |
unknown |
Het |
Gsdma |
T |
A |
11: 98,566,771 (GRCm39) |
L366Q |
probably benign |
Het |
Ifna15 |
T |
A |
4: 88,476,283 (GRCm39) |
D67V |
probably benign |
Het |
Igkv2-112 |
G |
A |
6: 68,197,678 (GRCm39) |
V117I |
probably benign |
Het |
Kcnip1 |
T |
G |
11: 33,601,548 (GRCm39) |
Y29S |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,388,454 (GRCm39) |
M2324L |
unknown |
Het |
Mettl5 |
T |
A |
2: 69,702,113 (GRCm39) |
D185V |
possibly damaging |
Het |
Mmp1b |
T |
A |
9: 7,369,271 (GRCm39) |
M359L |
probably benign |
Het |
Ndufa5 |
G |
A |
6: 24,522,749 (GRCm39) |
T31I |
probably benign |
Het |
Ngly1 |
T |
A |
14: 16,281,801 (GRCm38) |
C352* |
probably null |
Het |
Or14c45 |
A |
G |
7: 86,176,373 (GRCm39) |
H136R |
probably benign |
Het |
Or51a39 |
A |
T |
7: 102,362,875 (GRCm39) |
C248* |
probably null |
Het |
Pcdhac1 |
C |
T |
18: 37,224,021 (GRCm39) |
A278V |
possibly damaging |
Het |
Ppp2r3c |
T |
A |
12: 55,345,268 (GRCm39) |
K73N |
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,884,460 (GRCm39) |
V975A |
probably damaging |
Het |
Rps27rt |
C |
T |
9: 114,811,673 (GRCm39) |
V35M |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,469 (GRCm39) |
N67D |
probably benign |
Het |
Slc39a6 |
C |
A |
18: 24,718,493 (GRCm39) |
M521I |
probably benign |
Het |
Snx31 |
C |
T |
15: 36,555,430 (GRCm39) |
S39N |
probably damaging |
Het |
Speer1b |
C |
T |
5: 11,823,221 (GRCm39) |
T130I |
possibly damaging |
Het |
Sv2a |
T |
C |
3: 96,096,795 (GRCm39) |
|
probably null |
Het |
Thg1l |
G |
A |
11: 45,846,273 (GRCm39) |
A7V |
probably benign |
Het |
Ttc39c |
C |
T |
18: 12,822,932 (GRCm39) |
Q147* |
probably null |
Het |
Ube2u |
A |
G |
4: 100,407,194 (GRCm39) |
N352D |
unknown |
Het |
Uhrf1 |
T |
C |
17: 56,617,737 (GRCm39) |
V153A |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,875,996 (GRCm39) |
S143P |
|
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 |
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 |
R9416:Kcnh2
|
UTSW |
5 |
24,537,964 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCCCTCACACAAGCATG -3'
(R):5'- TTAGAGCAGGGTCAGGAGTTGC -3'
Sequencing Primer
(F):5'- CAAGCATGTGACTCAGGTTAAC -3'
(R):5'- CAGGAGTTGCAGATGTGGGC -3'
|
Posted On |
2022-04-18 |