Incidental Mutation 'R5623:Chrm3'
| ID |
441699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrm3
|
| Ensembl Gene |
ENSMUSG00000046159 |
| Gene Name |
cholinergic receptor, muscarinic 3, cardiac |
| Synonyms |
muscarinic acetylcholine receptor 3, M3R, Chrm-3 |
| MMRRC Submission |
043162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5623 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
9925522-10410883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 9927423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 538
(V538L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063093]
[ENSMUST00000187510]
|
| AlphaFold |
Q9ERZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063093
AA Change: V538L
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055579
Gene: ENSMUSG00000046159
AA Change: V538L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
75 |
265 |
8.9e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
78 |
270 |
6e-11 |
PFAM |
|
Pfam:7tm_1
|
84 |
543 |
6.9e-82 |
PFAM |
|
low complexity region
|
564 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187510
AA Change: V538L
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140131
Gene: ENSMUSG00000046159
AA Change: V538L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
75 |
265 |
8.5e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
78 |
270 |
6e-11 |
PFAM |
|
Pfam:7tm_1
|
84 |
543 |
2.6e-88 |
PFAM |
|
low complexity region
|
564 |
576 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1147 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (65/66) |
| 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 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice show reduced body weight and gonadal fat pad weight, decreased food intake, and low serum levels of leptin, triglycerides and insulin. Dilated pupils, hydronephrosis, and impaired contractility of smooth muscle are also observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b1 |
T |
G |
18: 64,679,165 (GRCm39) |
Q772P |
possibly damaging |
Het |
| B3gnt2 |
C |
G |
11: 22,787,018 (GRCm39) |
A57P |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,835,651 (GRCm39) |
D63E |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,799 (GRCm39) |
E72G |
probably damaging |
Het |
| Cfap221 |
C |
T |
1: 119,881,898 (GRCm39) |
A297T |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,975,194 (GRCm39) |
N1081K |
probably damaging |
Het |
| Clec16a |
T |
A |
16: 10,428,985 (GRCm39) |
N37K |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,070,548 (GRCm39) |
I229F |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,483,168 (GRCm39) |
I1590T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,976 (GRCm39) |
E148G |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,146 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,214,885 (GRCm39) |
F895L |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 31,007,980 (GRCm39) |
D2142E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,214 (GRCm39) |
V1944A |
possibly damaging |
Het |
| Eif4a2 |
C |
T |
16: 22,928,969 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
A |
6: 41,593,415 (GRCm39) |
M487K |
probably benign |
Het |
| Fgf18 |
T |
G |
11: 33,084,272 (GRCm39) |
T61P |
probably damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,927 (GRCm39) |
E191G |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,026,318 (GRCm39) |
S55L |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,246 (GRCm39) |
F286S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,376,637 (GRCm39) |
A553E |
probably damaging |
Het |
| Gpr153 |
A |
G |
4: 152,366,398 (GRCm39) |
D321G |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,871,782 (GRCm39) |
Q1388L |
probably null |
Het |
| Ighv14-3 |
A |
C |
12: 114,023,710 (GRCm39) |
S36A |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,766 (GRCm39) |
G969V |
probably damaging |
Het |
| Kat5 |
G |
A |
19: 5,657,590 (GRCm39) |
R307W |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,754,989 (GRCm39) |
S95G |
probably damaging |
Het |
| Mdm1 |
G |
A |
10: 117,986,694 (GRCm39) |
V171I |
possibly damaging |
Het |
| Nfu1 |
TCGC |
T |
6: 86,993,188 (GRCm39) |
|
probably benign |
Het |
| Or5k8 |
C |
T |
16: 58,644,706 (GRCm39) |
R122H |
probably benign |
Het |
| Or6c206 |
G |
A |
10: 129,096,901 (GRCm39) |
V24M |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,569,677 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,350,351 (GRCm39) |
T399S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 33,001,852 (GRCm39) |
|
probably benign |
Het |
| Psg21 |
A |
C |
7: 18,388,939 (GRCm39) |
L51R |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,857 (GRCm38) |
I526N |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,151,626 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,342,011 (GRCm39) |
Q620L |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,453 (GRCm39) |
S58A |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,771,791 (GRCm39) |
V375G |
probably benign |
Het |
| Sgk3 |
A |
T |
1: 9,872,520 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,066,408 (GRCm39) |
K192E |
probably benign |
Het |
| Slc34a3 |
T |
A |
2: 25,123,312 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
A |
6: 145,906,952 (GRCm39) |
C52S |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,142 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sult5a1 |
A |
C |
8: 123,884,181 (GRCm39) |
S47A |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,964 (GRCm39) |
D1557G |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,940,224 (GRCm39) |
I275V |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,499,411 (GRCm39) |
V1929I |
probably benign |
Het |
| Tmem132b |
G |
A |
5: 125,700,416 (GRCm39) |
R318Q |
probably damaging |
Het |
| Tmem176b |
T |
G |
6: 48,811,004 (GRCm39) |
I259L |
probably benign |
Het |
| Tmppe |
C |
A |
9: 114,234,964 (GRCm39) |
P421Q |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Tpcn2 |
T |
A |
7: 144,821,071 (GRCm39) |
R328W |
possibly damaging |
Het |
| Trem1 |
C |
T |
17: 48,544,083 (GRCm39) |
T36I |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,767,973 (GRCm39) |
R842L |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,199 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chrm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01608:Chrm3
|
APN |
13 |
9,928,634 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02266:Chrm3
|
APN |
13 |
9,927,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02701:Chrm3
|
APN |
13 |
9,928,500 (GRCm39) |
nonsense |
probably null |
|
|
IGL03085:Chrm3
|
APN |
13 |
9,927,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Chrm3
|
APN |
13 |
9,928,220 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0147:Chrm3
|
UTSW |
13 |
9,928,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Chrm3
|
UTSW |
13 |
9,927,969 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0544:Chrm3
|
UTSW |
13 |
9,927,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1557:Chrm3
|
UTSW |
13 |
9,928,350 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1647:Chrm3
|
UTSW |
13 |
9,928,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Chrm3
|
UTSW |
13 |
9,928,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Chrm3
|
UTSW |
13 |
9,927,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Chrm3
|
UTSW |
13 |
9,928,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Chrm3
|
UTSW |
13 |
9,928,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Chrm3
|
UTSW |
13 |
9,928,033 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4212:Chrm3
|
UTSW |
13 |
9,927,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4422:Chrm3
|
UTSW |
13 |
9,928,591 (GRCm39) |
nonsense |
probably null |
|
|
R4790:Chrm3
|
UTSW |
13 |
9,927,698 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4934:Chrm3
|
UTSW |
13 |
9,927,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Chrm3
|
UTSW |
13 |
9,928,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Chrm3
|
UTSW |
13 |
9,928,476 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6416:Chrm3
|
UTSW |
13 |
9,927,698 (GRCm39) |
missense |
probably benign |
|
|
R6693:Chrm3
|
UTSW |
13 |
9,927,458 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7135:Chrm3
|
UTSW |
13 |
9,927,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7297:Chrm3
|
UTSW |
13 |
9,927,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7423:Chrm3
|
UTSW |
13 |
9,928,845 (GRCm39) |
missense |
probably benign |
|
|
R7591:Chrm3
|
UTSW |
13 |
9,927,349 (GRCm39) |
nonsense |
probably null |
|
|
R8353:Chrm3
|
UTSW |
13 |
9,927,267 (GRCm39) |
makesense |
probably null |
|
|
R8355:Chrm3
|
UTSW |
13 |
9,928,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Chrm3
|
UTSW |
13 |
9,928,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8453:Chrm3
|
UTSW |
13 |
9,927,267 (GRCm39) |
makesense |
probably null |
|
|
R9227:Chrm3
|
UTSW |
13 |
9,928,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9230:Chrm3
|
UTSW |
13 |
9,928,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9336:Chrm3
|
UTSW |
13 |
9,928,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Chrm3
|
UTSW |
13 |
9,927,437 (GRCm39) |
missense |
|
|
|
R9537:Chrm3
|
UTSW |
13 |
9,927,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9586:Chrm3
|
UTSW |
13 |
9,927,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Chrm3
|
UTSW |
13 |
9,927,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCCTTTTCTACAAGGCC -3'
(R):5'- ACGCTGGCTAAGAGGTTTGC -3'
Sequencing Primer
(F):5'- TTTCTACAAGGCCTGCTCAG -3'
(R):5'- AGGTTTGCTCTCAAGACCAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation