Incidental Mutation 'R6343:Chrm5'
| ID |
513984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrm5
|
| Ensembl Gene |
ENSMUSG00000074939 |
| Gene Name |
cholinergic receptor, muscarinic 5 |
| Synonyms |
muscarinic acetylcholine receptor 5, M5R |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
112309516-112311114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112309793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 441
(A441V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099589]
|
| AlphaFold |
Q920H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099589
AA Change: A441V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097185
Gene: ENSMUSG00000074939
AA Change: A441V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
38 |
242 |
2.3e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
253 |
7.5e-8 |
PFAM |
|
Pfam:7tm_1
|
47 |
495 |
1.5e-79 |
PFAM |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3645 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| 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 clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit loss of acetylcholine-induced dilation of cerebral arteries, decreased pilocarpine-induced salivation, increased water-deprivation induced drinking, and attenuated morphine reinforcement and withdrawal. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(3) |
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Chrm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01532:Chrm5
|
APN |
2 |
112,309,577 (GRCm39) |
missense |
probably benign |
|
|
IGL01611:Chrm5
|
APN |
2 |
112,310,651 (GRCm39) |
nonsense |
probably null |
|
|
IGL02152:Chrm5
|
APN |
2 |
112,310,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03002:Chrm5
|
APN |
2 |
112,310,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
C9142:Chrm5
|
UTSW |
2 |
112,310,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Chrm5
|
UTSW |
2 |
112,311,065 (GRCm39) |
missense |
probably benign |
|
|
R0432:Chrm5
|
UTSW |
2 |
112,310,000 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1158:Chrm5
|
UTSW |
2 |
112,310,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1611:Chrm5
|
UTSW |
2 |
112,309,532 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1621:Chrm5
|
UTSW |
2 |
112,310,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1693:Chrm5
|
UTSW |
2 |
112,309,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Chrm5
|
UTSW |
2 |
112,310,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1989:Chrm5
|
UTSW |
2 |
112,310,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2071:Chrm5
|
UTSW |
2 |
112,309,572 (GRCm39) |
missense |
probably null |
0.93 |
|
R2890:Chrm5
|
UTSW |
2 |
112,310,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4659:Chrm5
|
UTSW |
2 |
112,310,102 (GRCm39) |
missense |
probably benign |
|
|
R4785:Chrm5
|
UTSW |
2 |
112,309,930 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5196:Chrm5
|
UTSW |
2 |
112,310,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Chrm5
|
UTSW |
2 |
112,310,445 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6499:Chrm5
|
UTSW |
2 |
112,310,825 (GRCm39) |
missense |
probably benign |
|
|
R6672:Chrm5
|
UTSW |
2 |
112,310,141 (GRCm39) |
missense |
probably benign |
|
|
R6905:Chrm5
|
UTSW |
2 |
112,309,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7192:Chrm5
|
UTSW |
2 |
112,310,672 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7775:Chrm5
|
UTSW |
2 |
112,310,301 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7778:Chrm5
|
UTSW |
2 |
112,310,301 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8780:Chrm5
|
UTSW |
2 |
112,310,453 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9287:Chrm5
|
UTSW |
2 |
112,309,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Chrm5
|
UTSW |
2 |
112,309,824 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9502:Chrm5
|
UTSW |
2 |
112,311,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Chrm5
|
UTSW |
2 |
112,310,826 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCAGCTTAAAGGTCTTCC -3'
(R):5'- AGTGTGTTGCCTATAAGTTCCG -3'
Sequencing Primer
(F):5'- CAGCAGCTTAAAGGTCTTCCTGAAG -3'
(R):5'- TCCGATTGGTGGTAAAAGCTGAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation