Incidental Mutation 'R2312:Kcnh2'
| ID |
247333 |
| 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 |
040311-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.681)
|
| Stock # |
R2312 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 24529952 bp (GRCm39)
|
| 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: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp12 |
A |
G |
1: 92,934,531 (GRCm39) |
E136G |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,616,995 (GRCm39) |
T179A |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,486 (GRCm39) |
V244I |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crygf |
A |
T |
1: 65,965,717 (GRCm39) |
M1L |
probably benign |
Het |
| Dapk1 |
G |
T |
13: 60,905,167 (GRCm39) |
C959F |
probably damaging |
Het |
| Dop1a |
C |
G |
9: 86,403,495 (GRCm39) |
S1565* |
probably null |
Het |
| Eya4 |
A |
G |
10: 22,982,163 (GRCm39) |
S622P |
probably damaging |
Het |
| Fbln1 |
T |
C |
15: 85,147,549 (GRCm39) |
V598A |
probably benign |
Het |
| Gldc |
A |
T |
19: 30,078,226 (GRCm39) |
F924I |
probably damaging |
Het |
| H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,415,563 (GRCm39) |
S4846* |
probably null |
Het |
| Jmjd1c |
A |
T |
10: 67,074,629 (GRCm39) |
K1917N |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,110,444 (GRCm39) |
F388S |
probably damaging |
Het |
| Lpar1 |
A |
C |
4: 58,487,168 (GRCm39) |
Y34* |
probably null |
Het |
| Lrpprc |
G |
A |
17: 85,080,686 (GRCm39) |
P180S |
probably damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,785 (GRCm39) |
H287R |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,675,078 (GRCm39) |
T933A |
probably benign |
Het |
| Or52r1c |
A |
G |
7: 102,735,633 (GRCm39) |
T298A |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,250 (GRCm39) |
T129A |
probably benign |
Het |
| Pfkm |
T |
A |
15: 98,023,456 (GRCm39) |
Y385N |
probably damaging |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Prx |
T |
C |
7: 27,216,051 (GRCm39) |
V184A |
possibly damaging |
Het |
| Ptgdr |
A |
C |
14: 45,096,619 (GRCm39) |
L31R |
probably damaging |
Het |
| Rab3b |
A |
G |
4: 108,747,691 (GRCm39) |
T63A |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,434,749 (GRCm39) |
M156T |
probably damaging |
Het |
| Rhobtb1 |
C |
A |
10: 69,106,293 (GRCm39) |
S286* |
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rmnd1 |
A |
T |
10: 4,377,466 (GRCm39) |
M71K |
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,978,290 (GRCm39) |
|
probably null |
Het |
| Rxrb |
T |
A |
17: 34,251,103 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,753,128 (GRCm39) |
T1731K |
probably damaging |
Het |
| Serpine2 |
A |
T |
1: 79,780,570 (GRCm39) |
L293Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,095,339 (GRCm39) |
T107A |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,293,196 (GRCm39) |
H181Q |
probably benign |
Het |
| Spaca3 |
A |
T |
11: 80,754,037 (GRCm39) |
Y58F |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,104,249 (GRCm39) |
T152A |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,847 (GRCm39) |
L412P |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,974,941 (GRCm39) |
S84P |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,754,798 (GRCm39) |
E1229D |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,861,984 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
G |
A |
4: 80,755,801 (GRCm39) |
W190* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vegfb |
C |
A |
19: 6,962,795 (GRCm39) |
R160L |
possibly damaging |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,147 (GRCm39) |
M183T |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt10a |
C |
A |
1: 74,842,589 (GRCm39) |
A355E |
possibly damaging |
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 |
|
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'- AAGTGCAGCAATTGATTTCCCATG -3'
(R):5'- ATGTATGCCAGCATCTTCGGC -3'
Sequencing Primer
(F):5'- CATGTCCATCTGTCTTACATGGGATG -3'
(R):5'- GCAACGTGTCCGCCATCATC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation