Incidental Mutation 'R8063:Kcnh2'
| ID |
619842 |
| 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 |
067499-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.681)
|
| Stock # |
R8063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24526670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1042
(E1042G)
|
| 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: E1042G
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: E1042G
| 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: E700G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: E700G
| 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% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,190 (GRCm39) |
I248N |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,306,490 (GRCm39) |
C20S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,417 (GRCm39) |
S197L |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,853,768 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,768 (GRCm39) |
T837A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,545 (GRCm39) |
E50G |
probably damaging |
Het |
| Bend5 |
G |
T |
4: 111,317,031 (GRCm39) |
C398F |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,712,969 (GRCm39) |
V1026A |
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,173 (GRCm39) |
Y165* |
probably null |
Het |
| Casp14 |
A |
G |
10: 78,549,865 (GRCm39) |
F210L |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,175 (GRCm39) |
D458E |
probably benign |
Het |
| Cisd3 |
T |
C |
11: 97,576,710 (GRCm39) |
V12A |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,045,578 (GRCm39) |
M211K |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,075 (GRCm39) |
L197P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,729 (GRCm39) |
I209N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,544,376 (GRCm39) |
M458K |
probably benign |
Het |
| Eif2ak4 |
G |
A |
2: 118,241,382 (GRCm39) |
E178K |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,880 (GRCm39) |
W123* |
probably null |
Het |
| Ighv1-20 |
T |
C |
12: 114,687,405 (GRCm39) |
Y113C |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,198 (GRCm39) |
I248N |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,081,819 (GRCm39) |
|
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Lasp1 |
T |
C |
11: 97,724,957 (GRCm39) |
Y188H |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,087 (GRCm39) |
T3361A |
unknown |
Het |
| Lrrc52 |
A |
G |
1: 167,294,090 (GRCm39) |
I65T |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,495 (GRCm39) |
C224R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,942,136 (GRCm39) |
T162A |
probably benign |
Het |
| Mstn |
T |
A |
1: 53,105,607 (GRCm39) |
F316L |
probably benign |
Het |
| Ndufs8 |
T |
C |
19: 3,961,019 (GRCm39) |
Y86C |
probably damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,823 (GRCm39) |
I133F |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,126 (GRCm39) |
D462N |
possibly damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,597 (GRCm39) |
S62P |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,285,775 (GRCm39) |
Y388H |
probably damaging |
Het |
| Rdm1 |
C |
A |
11: 101,521,694 (GRCm39) |
Q150K |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,991,005 (GRCm39) |
V446A |
probably benign |
Het |
| Sin3b |
G |
A |
8: 73,452,169 (GRCm39) |
D71N |
probably damaging |
Het |
| Sirt5 |
A |
T |
13: 43,524,323 (GRCm39) |
T32S |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,059,524 (GRCm39) |
V85A |
probably benign |
Het |
| Snx1 |
C |
T |
9: 66,004,676 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,132,415 (GRCm39) |
D1181V |
unknown |
Het |
| Tcof1 |
A |
G |
18: 60,971,834 (GRCm39) |
S158P |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,379,723 (GRCm39) |
D815G |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,516,098 (GRCm39) |
I290N |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,300,544 (GRCm39) |
N225K |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,238,524 (GRCm39) |
T11A |
probably benign |
Het |
| Vmn1r5 |
T |
G |
6: 56,962,583 (GRCm39) |
M86R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,001,914 (GRCm39) |
H66Q |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,841,327 (GRCm39) |
E2647G |
|
Het |
| Wdr5b |
T |
A |
16: 35,862,158 (GRCm39) |
D92E |
possibly damaging |
Het |
| Zfp960 |
C |
A |
17: 17,308,623 (GRCm39) |
R446S |
probably benign |
Het |
| Zscan20 |
C |
T |
4: 128,480,028 (GRCm39) |
S821N |
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 |
|
R8018:Kcnh2
|
UTSW |
5 |
24,525,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCCTCATGCAGCTGAGGAAG -3'
(R):5'- AGCCTTTGACAGAGGATGGG -3'
Sequencing Primer
(F):5'- CTCATGCAGCTGAGGAAGGAGAG -3'
(R):5'- GACACCTGTAATCCCTTGTCAGGTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation