Incidental Mutation 'R2235:Chrm4'
| ID |
240371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrm4
|
| Ensembl Gene |
ENSMUSG00000040495 |
| Gene Name |
cholinergic receptor, muscarinic 4 |
| Synonyms |
Chrm-4, muscarinic acetylcholine receptor 4 |
| MMRRC Submission |
040236-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2235 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91757594-91759033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91758875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 428
(S428G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000028672]
[ENSMUST00000045537]
[ENSMUST00000069423]
[ENSMUST00000090602]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000142231]
[ENSMUST00000128152]
[ENSMUST00000111309]
|
| 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 benign
Transcript: ENSMUST00000045537
AA Change: S428G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000040808
Gene: ENSMUSG00000040495
AA Change: S428G
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000138894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134103
|
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,517,001 (GRCm39) |
D514G |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,568,408 (GRCm39) |
L1037Q |
probably damaging |
Het |
| Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
| Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
| Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
probably benign |
Het |
|
| Other mutations in Chrm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02064:Chrm4
|
APN |
2 |
91,758,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGAGATCGTACCTGCCAC -3'
(R):5'- CGGTACACACTCTTGACACCAG -3'
Sequencing Primer
(F):5'- ATCGTACCTGCCACGCCAG -3'
(R):5'- TCTTGACACCAGCACCTCCTAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation