Incidental Mutation 'IGL02064:Chrm4'
ID |
185569 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chrm4
|
Ensembl Gene |
ENSMUSG00000040495 |
Gene Name |
cholinergic receptor, muscarinic 4 |
Synonyms |
Chrm-4, muscarinic acetylcholine receptor 4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02064
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91757594-91759033 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91758176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 195
(T195A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000028672]
[ENSMUST00000045537]
[ENSMUST00000069423]
[ENSMUST00000090602]
[ENSMUST00000099709]
[ENSMUST00000142231]
[ENSMUST00000111303]
[ENSMUST00000111309]
[ENSMUST00000128152]
|
AlphaFold |
P32211 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028667
|
SMART Domains |
Protein: ENSMUSP00000028667 Gene: ENSMUSG00000040479
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
C1
|
96 |
153 |
2.67e-1 |
SMART |
C1
|
173 |
231 |
8.18e-7 |
SMART |
low complexity region
|
257 |
274 |
N/A |
INTRINSIC |
DAGKc
|
296 |
420 |
4.61e-65 |
SMART |
DAGKa
|
447 |
604 |
2.75e-95 |
SMART |
low complexity region
|
762 |
780 |
N/A |
INTRINSIC |
ANK
|
823 |
853 |
8.52e-4 |
SMART |
ANK
|
858 |
887 |
2.18e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028672
|
SMART Domains |
Protein: ENSMUSP00000028672 Gene: ENSMUSG00000027239
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
PTN
|
34 |
113 |
4.2e-53 |
SMART |
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045537
AA Change: T195A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000040808 Gene: ENSMUSG00000040495 AA Change: T195A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
42 |
248 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
48 |
453 |
5.5e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069423
|
SMART Domains |
Protein: ENSMUSP00000068413 Gene: ENSMUSG00000027239
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
PTN
|
34 |
113 |
4.2e-53 |
SMART |
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090602
|
SMART Domains |
Protein: ENSMUSP00000088090 Gene: ENSMUSG00000027239
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
PTN
|
34 |
113 |
4.2e-53 |
SMART |
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099709
|
SMART Domains |
Protein: ENSMUSP00000106937 Gene: ENSMUSG00000040479
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
38 |
N/A |
INTRINSIC |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
C1
|
113 |
170 |
2.67e-1 |
SMART |
C1
|
190 |
248 |
8.18e-7 |
SMART |
low complexity region
|
274 |
291 |
N/A |
INTRINSIC |
DAGKc
|
313 |
437 |
4.61e-65 |
SMART |
DAGKa
|
464 |
621 |
2.75e-95 |
SMART |
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
ANK
|
840 |
870 |
8.52e-4 |
SMART |
ANK
|
875 |
904 |
2.18e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142231
|
SMART Domains |
Protein: ENSMUSP00000114740 Gene: ENSMUSG00000040479
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111303
|
SMART Domains |
Protein: ENSMUSP00000106934 Gene: ENSMUSG00000040479
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
low complexity region
|
100 |
113 |
N/A |
INTRINSIC |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
C1
|
290 |
347 |
2.67e-1 |
SMART |
C1
|
367 |
425 |
8.18e-7 |
SMART |
low complexity region
|
451 |
468 |
N/A |
INTRINSIC |
DAGKc
|
490 |
614 |
4.61e-65 |
SMART |
DAGKa
|
641 |
798 |
2.75e-95 |
SMART |
low complexity region
|
956 |
974 |
N/A |
INTRINSIC |
ANK
|
1017 |
1047 |
8.52e-4 |
SMART |
ANK
|
1052 |
1081 |
2.18e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111309
|
SMART Domains |
Protein: ENSMUSP00000106941 Gene: ENSMUSG00000027239
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
PTN
|
34 |
113 |
4.2e-53 |
SMART |
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128152
|
SMART Domains |
Protein: ENSMUSP00000118684 Gene: ENSMUSG00000040479
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
Blast:C1
|
62 |
114 |
9e-33 |
BLAST |
|
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 clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele show decreased body weight, hyperactivity, abnormalities in carbamylcholine-induced bradycardia and gallbladder contractility, and altered CNS synaptic transmission. Mice homozygous for a different null allele show loss of the anti-cataleptic effect of scopolamine. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
C |
3: 59,784,463 (GRCm39) |
L312P |
probably damaging |
Het |
Acap2 |
A |
C |
16: 30,946,146 (GRCm39) |
W284G |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,506,986 (GRCm39) |
L93P |
possibly damaging |
Het |
Agbl2 |
G |
T |
2: 90,614,368 (GRCm39) |
|
probably benign |
Het |
Arap3 |
C |
T |
18: 38,124,754 (GRCm39) |
G242D |
probably damaging |
Het |
Asxl3 |
G |
A |
18: 22,657,401 (GRCm39) |
V1804I |
possibly damaging |
Het |
Bnc1 |
C |
A |
7: 81,623,251 (GRCm39) |
V659L |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Car9 |
A |
G |
4: 43,507,363 (GRCm39) |
E103G |
probably benign |
Het |
Cldn10 |
T |
C |
14: 119,092,424 (GRCm39) |
I8T |
probably damaging |
Het |
Col12a1 |
G |
A |
9: 79,599,654 (GRCm39) |
S833F |
probably benign |
Het |
Cryba2 |
T |
A |
1: 74,929,720 (GRCm39) |
D139V |
possibly damaging |
Het |
Emp1 |
T |
A |
6: 135,354,210 (GRCm39) |
M1K |
probably null |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Exosc4 |
C |
A |
15: 76,213,836 (GRCm39) |
A220E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,282,112 (GRCm39) |
|
probably benign |
Het |
Grid2 |
C |
T |
6: 64,040,919 (GRCm39) |
T287I |
probably benign |
Het |
Grifin |
C |
T |
5: 140,550,494 (GRCm39) |
A7T |
probably damaging |
Het |
Gzmg |
T |
C |
14: 56,394,798 (GRCm39) |
K157E |
probably benign |
Het |
Kcnq2 |
A |
T |
2: 180,750,819 (GRCm39) |
I340N |
probably damaging |
Het |
Klrb1 |
T |
A |
6: 128,687,600 (GRCm39) |
H98L |
probably benign |
Het |
Krt90 |
T |
C |
15: 101,471,088 (GRCm39) |
H58R |
possibly damaging |
Het |
Krtap5-2 |
C |
A |
7: 141,729,468 (GRCm39) |
G71C |
unknown |
Het |
Krtap7-1 |
A |
T |
16: 89,305,011 (GRCm39) |
M47K |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,373,002 (GRCm39) |
|
probably null |
Het |
Ly6g2 |
A |
G |
15: 75,093,505 (GRCm39) |
|
probably benign |
Het |
Musk |
A |
G |
4: 58,286,128 (GRCm39) |
N6S |
possibly damaging |
Het |
Or2aj4 |
A |
G |
16: 19,385,298 (GRCm39) |
C112R |
probably damaging |
Het |
Or51a39 |
A |
G |
7: 102,362,808 (GRCm39) |
F271L |
probably damaging |
Het |
Or56a42-ps1 |
A |
T |
7: 104,776,241 (GRCm39) |
F89Y |
possibly damaging |
Het |
Or5p58 |
T |
G |
7: 107,694,454 (GRCm39) |
T108P |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,874 (GRCm39) |
I122N |
probably damaging |
Het |
Pcdh19 |
A |
G |
X: 132,586,719 (GRCm39) |
M432T |
probably benign |
Het |
Prdm1 |
A |
G |
10: 44,317,338 (GRCm39) |
F495S |
probably damaging |
Het |
Prkar2a |
T |
C |
9: 108,610,403 (GRCm39) |
Y211H |
possibly damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,754,862 (GRCm39) |
G1143V |
probably damaging |
Het |
Rbbp7 |
A |
G |
X: 161,552,783 (GRCm39) |
|
probably null |
Het |
Scel |
C |
A |
14: 103,770,762 (GRCm39) |
H65Q |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,137,463 (GRCm39) |
|
probably benign |
Het |
Sfswap |
C |
A |
5: 129,637,860 (GRCm39) |
T839N |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,699,911 (GRCm39) |
I636V |
possibly damaging |
Het |
Slc15a1 |
G |
T |
14: 121,699,886 (GRCm39) |
P644H |
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,935,883 (GRCm39) |
I38N |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,816,913 (GRCm39) |
Q218* |
probably null |
Het |
Tbc1d14 |
A |
T |
5: 36,665,019 (GRCm39) |
L237* |
probably null |
Het |
Trpm7 |
C |
T |
2: 126,639,863 (GRCm39) |
E1578K |
probably damaging |
Het |
Ttc17 |
G |
A |
2: 94,161,012 (GRCm39) |
T896I |
probably damaging |
Het |
Virma |
A |
G |
4: 11,513,163 (GRCm39) |
D339G |
possibly damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,349,533 (GRCm39) |
Y683F |
probably benign |
Het |
Xrra1 |
T |
A |
7: 99,563,411 (GRCm39) |
L466Q |
probably damaging |
Het |
|
Other mutations in Chrm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0437:Chrm4
|
UTSW |
2 |
91,758,788 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0755:Chrm4
|
UTSW |
2 |
91,758,747 (GRCm39) |
missense |
probably benign |
0.02 |
R1972:Chrm4
|
UTSW |
2 |
91,757,838 (GRCm39) |
missense |
probably benign |
0.00 |
R2233:Chrm4
|
UTSW |
2 |
91,758,875 (GRCm39) |
missense |
probably benign |
0.01 |
R2235:Chrm4
|
UTSW |
2 |
91,758,875 (GRCm39) |
missense |
probably benign |
0.01 |
R2902:Chrm4
|
UTSW |
2 |
91,758,302 (GRCm39) |
missense |
probably benign |
0.00 |
R3115:Chrm4
|
UTSW |
2 |
91,757,705 (GRCm39) |
missense |
probably benign |
0.06 |
R3907:Chrm4
|
UTSW |
2 |
91,758,084 (GRCm39) |
missense |
probably damaging |
0.98 |
R4839:Chrm4
|
UTSW |
2 |
91,757,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Chrm4
|
UTSW |
2 |
91,758,692 (GRCm39) |
missense |
probably benign |
0.01 |
R7242:Chrm4
|
UTSW |
2 |
91,757,595 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
R7707:Chrm4
|
UTSW |
2 |
91,757,699 (GRCm39) |
missense |
probably benign |
0.01 |
R8066:Chrm4
|
UTSW |
2 |
91,758,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R8076:Chrm4
|
UTSW |
2 |
91,758,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Chrm4
|
UTSW |
2 |
91,758,563 (GRCm39) |
missense |
probably benign |
0.00 |
R8784:Chrm4
|
UTSW |
2 |
91,758,033 (GRCm39) |
missense |
probably benign |
0.16 |
R9007:Chrm4
|
UTSW |
2 |
91,758,075 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9113:Chrm4
|
UTSW |
2 |
91,758,075 (GRCm39) |
missense |
probably benign |
0.28 |
|
Posted On |
2014-05-07 |