Incidental Mutation 'R0101:Chrm2'
| ID |
33194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrm2
|
| Ensembl Gene |
ENSMUSG00000045613 |
| Gene Name |
cholinergic receptor, muscarinic 2, cardiac |
| Synonyms |
muscarinic acetylcholine receptor 2, M2, AChR M2, Chrm-2 |
| MMRRC Submission |
038387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
36365019-36505349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36501430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 429
(C429F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172278]
|
| AlphaFold |
Q9ERZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172278
AA Change: C429F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130874
Gene: ENSMUSG00000045613
AA Change: C429F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
40 |
440 |
2.5e-75 |
PFAM |
|
| Meta Mutation Damage Score |
0.9291 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,771,341 (GRCm39) |
Q41R |
probably benign |
Het |
| Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
| Cyld |
T |
A |
8: 89,444,928 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,395 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
| Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
| Emcn |
A |
T |
3: 137,047,001 (GRCm39) |
M1L |
possibly damaging |
Het |
| Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
| Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
| Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
| Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
| Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
| Sema5b |
T |
C |
16: 35,483,472 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
| St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
| Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
| Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
T |
A |
5: 117,473,134 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
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 |
|
IGL00495:Chrm2
|
APN |
6 |
36,500,355 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTAGTGGGATCGTCAGGTCAG -3'
(R):5'- GCGCCTAAACGGACAGGGTTTATAC -3'
Sequencing Primer
(F):5'- GAACATTGTAGCCCGCAAAATTG -3'
(R):5'- AAACCCCTTAATTGCACGTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation