Incidental Mutation 'IGL00495:Chrm2'
| ID |
5460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrm2
|
| Ensembl Gene |
ENSMUSG00000045613 |
| Gene Name |
cholinergic receptor, muscarinic 2, cardiac |
| Synonyms |
muscarinic acetylcholine receptor 2, M2, AChR M2, Chrm-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL00495
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
36365019-36505349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36500355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 71
(I71F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172278]
|
| AlphaFold |
Q9ERZ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172278
AA Change: I71F
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: I71F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
440 |
2.5e-75 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
| Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
| Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
| Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
| Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
| Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
| Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
| Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
| Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
| Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
| Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
| Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
| Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
| Other mutations in Chrm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Chrm2
|
APN |
6 |
36,500,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Chrm2
|
APN |
6 |
36,501,373 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01482:Chrm2
|
APN |
6 |
36,500,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0101:Chrm2
|
UTSW |
6 |
36,501,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Chrm2
|
UTSW |
6 |
36,501,046 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0539:Chrm2
|
UTSW |
6 |
36,500,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0972:Chrm2
|
UTSW |
6 |
36,501,401 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2106:Chrm2
|
UTSW |
6 |
36,500,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Chrm2
|
UTSW |
6 |
36,500,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Chrm2
|
UTSW |
6 |
36,501,097 (GRCm39) |
missense |
probably benign |
|
|
R4910:Chrm2
|
UTSW |
6 |
36,501,168 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5358:Chrm2
|
UTSW |
6 |
36,500,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Chrm2
|
UTSW |
6 |
36,500,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6108:Chrm2
|
UTSW |
6 |
36,500,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Chrm2
|
UTSW |
6 |
36,500,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Chrm2
|
UTSW |
6 |
36,500,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6677:Chrm2
|
UTSW |
6 |
36,501,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6716:Chrm2
|
UTSW |
6 |
36,501,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Chrm2
|
UTSW |
6 |
36,500,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8004:Chrm2
|
UTSW |
6 |
36,500,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8185:Chrm2
|
UTSW |
6 |
36,500,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8277:Chrm2
|
UTSW |
6 |
36,500,211 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8557:Chrm2
|
UTSW |
6 |
36,501,010 (GRCm39) |
missense |
probably benign |
|
|
R9395:Chrm2
|
UTSW |
6 |
36,501,196 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9441:Chrm2
|
UTSW |
6 |
36,500,955 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Chrm2
|
UTSW |
6 |
36,501,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation