Incidental Mutation 'R2435:Kcnh2'
| ID |
249538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh2
|
| Ensembl Gene |
ENSMUSG00000038319 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 2 |
| Synonyms |
merg1a, M-erg, Lqt2, ERG1, ether a go-go related, merg1b, LQT |
| MMRRC Submission |
040396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R2435 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24319589-24351604 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 24326347 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036092]
[ENSMUST00000115098]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036092
|
| SMART Domains |
Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
| 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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142197
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,920,894 (GRCm38) |
T226I |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,479,692 (GRCm38) |
N102D |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,939,026 (GRCm38) |
C21S |
probably damaging |
Het |
| Cdh18 |
C |
T |
15: 23,367,008 (GRCm38) |
R267W |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,581,145 (GRCm38) |
N966K |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,288,896 (GRCm38) |
V44A |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,318,272 (GRCm38) |
N2828I |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,762,865 (GRCm38) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,200,596 (GRCm38) |
V6D |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,294,780 (GRCm38) |
D1398G |
probably damaging |
Het |
| Gm13119 |
A |
T |
4: 144,362,903 (GRCm38) |
I264F |
possibly damaging |
Het |
| Gpi1 |
G |
A |
7: 34,205,829 (GRCm38) |
A390V |
probably damaging |
Het |
| Gypa |
G |
T |
8: 80,506,768 (GRCm38) |
|
probably null |
Het |
| Hsp90aa1 |
C |
A |
12: 110,695,681 (GRCm38) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,695,680 (GRCm38) |
M1L |
possibly damaging |
Het |
| Ifna13 |
T |
A |
4: 88,644,129 (GRCm38) |
Q86L |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,121,937 (GRCm38) |
C698* |
probably null |
Het |
| Ivns1abp |
T |
C |
1: 151,363,310 (GRCm38) |
V625A |
probably benign |
Het |
| Kcnj6 |
G |
A |
16: 94,762,679 (GRCm38) |
T320M |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,750,249 (GRCm38) |
I248T |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,818,104 (GRCm38) |
Y2647F |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 (GRCm38) |
E26K |
possibly damaging |
Het |
| Olfr727 |
T |
C |
14: 50,126,754 (GRCm38) |
M59T |
probably damaging |
Het |
| Olfr815 |
G |
T |
10: 129,902,304 (GRCm38) |
N135K |
possibly damaging |
Het |
| Pard3b |
T |
A |
1: 62,587,738 (GRCm38) |
V1059E |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 109,650,702 (GRCm38) |
I1585L |
probably benign |
Het |
| Prrc2b |
A |
T |
2: 32,219,729 (GRCm38) |
S1791C |
probably damaging |
Het |
| Rbmxl2 |
C |
A |
7: 107,210,331 (GRCm38) |
S274R |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,258,168 (GRCm38) |
E168G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,911,904 (GRCm38) |
S1440P |
probably benign |
Het |
| Snrnp40 |
A |
G |
4: 130,384,551 (GRCm38) |
H283R |
probably damaging |
Het |
| Tcaf2 |
G |
T |
6: 42,630,364 (GRCm38) |
Q219K |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,287,953 (GRCm38) |
R803H |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,139,606 (GRCm38) |
D234G |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 116,068,688 (GRCm38) |
F653S |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,936,373 (GRCm38) |
I136V |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,820,891 (GRCm38) |
S151P |
possibly damaging |
Het |
| Vmn2r50 |
C |
A |
7: 10,053,099 (GRCm38) |
W27L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,438,574 (GRCm38) |
S2006G |
unknown |
Het |
|
| Other mutations in Kcnh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Kcnh2
|
APN |
5 |
24,324,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01536:Kcnh2
|
APN |
5 |
24,326,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02305:Kcnh2
|
APN |
5 |
24,322,660 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02379:Kcnh2
|
APN |
5 |
24,326,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03100:Kcnh2
|
APN |
5 |
24,322,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03326:Kcnh2
|
APN |
5 |
24,326,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0077:Kcnh2
|
UTSW |
5 |
24,322,702 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0349:Kcnh2
|
UTSW |
5 |
24,351,237 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0959:Kcnh2
|
UTSW |
5 |
24,322,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0960:Kcnh2
|
UTSW |
5 |
24,322,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0963:Kcnh2
|
UTSW |
5 |
24,322,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1130:Kcnh2
|
UTSW |
5 |
24,331,825 (GRCm38) |
nonsense |
probably null |
|
|
R1147:Kcnh2
|
UTSW |
5 |
24,324,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1147:Kcnh2
|
UTSW |
5 |
24,324,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1201:Kcnh2
|
UTSW |
5 |
24,322,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1346:Kcnh2
|
UTSW |
5 |
24,322,660 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1608:Kcnh2
|
UTSW |
5 |
24,322,219 (GRCm38) |
missense |
probably benign |
|
|
R1613:Kcnh2
|
UTSW |
5 |
24,322,762 (GRCm38) |
splice site |
probably benign |
|
|
R1797:Kcnh2
|
UTSW |
5 |
24,322,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2006:Kcnh2
|
UTSW |
5 |
24,326,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2312:Kcnh2
|
UTSW |
5 |
24,324,954 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4623:Kcnh2
|
UTSW |
5 |
24,348,442 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4941:Kcnh2
|
UTSW |
5 |
24,331,087 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5394:Kcnh2
|
UTSW |
5 |
24,332,041 (GRCm38) |
missense |
probably benign |
|
|
R5467:Kcnh2
|
UTSW |
5 |
24,326,767 (GRCm38) |
nonsense |
probably null |
|
|
R6127:Kcnh2
|
UTSW |
5 |
24,325,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6135:Kcnh2
|
UTSW |
5 |
24,321,793 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6280:Kcnh2
|
UTSW |
5 |
24,331,923 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6936:Kcnh2
|
UTSW |
5 |
24,324,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7061:Kcnh2
|
UTSW |
5 |
24,331,922 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7136:Kcnh2
|
UTSW |
5 |
24,332,991 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7399:Kcnh2
|
UTSW |
5 |
24,322,059 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7479:Kcnh2
|
UTSW |
5 |
24,325,492 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7860:Kcnh2
|
UTSW |
5 |
24,324,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7950:Kcnh2
|
UTSW |
5 |
24,333,036 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8018:Kcnh2
|
UTSW |
5 |
24,320,016 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8063:Kcnh2
|
UTSW |
5 |
24,321,672 (GRCm38) |
missense |
probably benign |
0.20 |
|
R8517:Kcnh2
|
UTSW |
5 |
24,326,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8681:Kcnh2
|
UTSW |
5 |
24,331,983 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8992:Kcnh2
|
UTSW |
5 |
24,331,870 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9260:Kcnh2
|
UTSW |
5 |
24,323,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9348:Kcnh2
|
UTSW |
5 |
24,333,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9349:Kcnh2
|
UTSW |
5 |
24,333,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9416:Kcnh2
|
UTSW |
5 |
24,332,966 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCCGGAACTCTAAGGAG -3'
(R):5'- ACATCATGTTCATTGTGGACATCC -3'
Sequencing Primer
(F):5'- GTTAGAAAATGATATTCCCACTCCC -3'
(R):5'- GTGGACATCCTTATCAATTTCCG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation