Incidental Mutation 'IGL02539:Chrm1'
| ID |
297621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrm1
|
| Ensembl Gene |
ENSMUSG00000032773 |
| Gene Name |
cholinergic receptor, muscarinic 1, CNS |
| Synonyms |
Chrm-1, AW495047, M1R, muscarinic acetylcholine receptor 1, M1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL02539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8641369-8660970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8655675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 127
(V127M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035444]
[ENSMUST00000163785]
[ENSMUST00000177197]
|
| AlphaFold |
P12657 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035444
AA Change: V127M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042632
Gene: ENSMUSG00000032773
AA Change: V127M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
36 |
227 |
1.7e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
418 |
1.9e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157205
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163785
AA Change: V127M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126103
Gene: ENSMUSG00000032773
AA Change: V127M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
36 |
227 |
1.7e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
418 |
2.9e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177197
|
| SMART Domains |
Protein: ENSMUSP00000135356
Gene: ENSMUSG00000032773
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
42 |
74 |
1.6e-9 |
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 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 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit resistance to pilocarpine-induced seizures, selective memory deficits, elevated dopaminergic transmission in the striatum, and increased spontaneous and amphetamine-induced locomotion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
| Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,865,702 (GRCm39) |
D313G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
| Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,355 (GRCm39) |
D186G |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,321 (GRCm39) |
K101R |
probably benign |
Het |
| Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,380,183 (GRCm39) |
D288E |
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,938,690 (GRCm39) |
N554S |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
| Plpp5 |
A |
G |
8: 26,214,215 (GRCm39) |
H244R |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
| Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
| Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
| Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
| Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
| Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
| Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
probably damaging |
Het |
|
| Other mutations in Chrm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Chrm1
|
APN |
19 |
8,655,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01633:Chrm1
|
APN |
19 |
8,655,859 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01824:Chrm1
|
APN |
19 |
8,656,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03342:Chrm1
|
APN |
19 |
8,656,672 (GRCm39) |
missense |
probably benign |
0.33 |
|
Flystone
|
UTSW |
19 |
8,656,518 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1660:Chrm1
|
UTSW |
19 |
8,656,582 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1942:Chrm1
|
UTSW |
19 |
8,655,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2208:Chrm1
|
UTSW |
19 |
8,655,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Chrm1
|
UTSW |
19 |
8,655,542 (GRCm39) |
nonsense |
probably null |
|
|
R6535:Chrm1
|
UTSW |
19 |
8,656,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6720:Chrm1
|
UTSW |
19 |
8,655,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8061:Chrm1
|
UTSW |
19 |
8,656,518 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8262:Chrm1
|
UTSW |
19 |
8,656,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9004:Chrm1
|
UTSW |
19 |
8,655,909 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9443:Chrm1
|
UTSW |
19 |
8,655,550 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2015-04-16 |
Incidental Mutation