Incidental Mutation 'IGL00557:Chrng'
| ID |
7417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrng
|
| Ensembl Gene |
ENSMUSG00000026253 |
| Gene Name |
cholinergic receptor, nicotinic, gamma polypeptide |
| Synonyms |
Acrg, Achr-3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87133533-87139365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87134469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 135
(V135A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027470]
[ENSMUST00000185763]
[ENSMUST00000186038]
[ENSMUST00000188796]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027470
AA Change: V113A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027470
Gene: ENSMUSG00000026253
AA Change: V113A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
26 |
241 |
7.9e-72 |
PFAM |
|
Pfam:Neur_chan_memb
|
248 |
494 |
9.6e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185763
AA Change: V170A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139600
Gene: ENSMUSG00000026253
AA Change: V170A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
20 |
72 |
1.4e-6 |
PFAM |
|
Pfam:Neur_chan_LBD
|
117 |
255 |
1e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186038
AA Change: V135A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141001
Gene: ENSMUSG00000026253
AA Change: V135A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
48 |
220 |
1e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188796
AA Change: V113A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140796
Gene: ENSMUSG00000026253
AA Change: V113A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
26 |
142 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189392
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display perinatal and postnatal lethality, paradoxical breathing, abnormal skeletal muscle morphology, abnormal neuromuscular junction morphology and physiology, and are unable to suckle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
A |
T |
10: 78,109,516 (GRCm39) |
|
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,298,340 (GRCm39) |
T242A |
probably benign |
Het |
| Asb15 |
C |
A |
6: 24,558,649 (GRCm39) |
R55S |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,484,003 (GRCm39) |
R2941W |
probably benign |
Het |
| Corin |
G |
T |
5: 72,462,231 (GRCm39) |
H859Q |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,963,434 (GRCm39) |
E208G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,904,409 (GRCm39) |
I166N |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,657 (GRCm39) |
R5797G |
possibly damaging |
Het |
| Galntl6 |
T |
C |
8: 59,364,451 (GRCm39) |
I20V |
possibly damaging |
Het |
| Glra2 |
A |
G |
X: 164,072,633 (GRCm39) |
F78L |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,746,896 (GRCm39) |
D51G |
probably benign |
Het |
| Gsta2 |
T |
A |
9: 78,238,525 (GRCm39) |
K185* |
probably null |
Het |
| Hmgcr |
C |
T |
13: 96,795,786 (GRCm39) |
D294N |
probably benign |
Het |
| Iglv2 |
A |
G |
16: 19,079,547 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,776,466 (GRCm39) |
L63H |
probably damaging |
Het |
| P2ry10b |
T |
C |
X: 106,215,243 (GRCm39) |
V201A |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,571,642 (GRCm39) |
|
probably null |
Het |
| Samd4 |
T |
A |
14: 47,290,355 (GRCm39) |
L154H |
probably damaging |
Het |
| Sult2a4 |
A |
T |
7: 13,718,870 (GRCm39) |
D124E |
probably damaging |
Het |
| Trav9-1 |
A |
T |
14: 53,725,815 (GRCm39) |
Y43F |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,681 (GRCm39) |
N506S |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,824,227 (GRCm39) |
S474P |
probably damaging |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,227 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp942 |
A |
T |
17: 22,148,042 (GRCm39) |
C196S |
probably benign |
Het |
|
| Other mutations in Chrng |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02947:Chrng
|
APN |
1 |
87,137,606 (GRCm39) |
splice site |
probably null |
|
|
IGL03014:Chrng
|
UTSW |
1 |
87,138,759 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1051:Chrng
|
UTSW |
1 |
87,136,785 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1346:Chrng
|
UTSW |
1 |
87,135,985 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1368:Chrng
|
UTSW |
1 |
87,133,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Chrng
|
UTSW |
1 |
87,135,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Chrng
|
UTSW |
1 |
87,138,628 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2852:Chrng
|
UTSW |
1 |
87,134,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3707:Chrng
|
UTSW |
1 |
87,138,333 (GRCm39) |
nonsense |
probably null |
|
|
R4780:Chrng
|
UTSW |
1 |
87,135,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Chrng
|
UTSW |
1 |
87,137,523 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5871:Chrng
|
UTSW |
1 |
87,134,451 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6058:Chrng
|
UTSW |
1 |
87,139,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Chrng
|
UTSW |
1 |
87,137,523 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7086:Chrng
|
UTSW |
1 |
87,138,735 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7229:Chrng
|
UTSW |
1 |
87,137,166 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7261:Chrng
|
UTSW |
1 |
87,134,962 (GRCm39) |
splice site |
probably null |
|
|
R7572:Chrng
|
UTSW |
1 |
87,136,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Chrng
|
UTSW |
1 |
87,137,175 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8132:Chrng
|
UTSW |
1 |
87,133,718 (GRCm39) |
missense |
unknown |
|
|
R8865:Chrng
|
UTSW |
1 |
87,135,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Chrng
|
UTSW |
1 |
87,138,397 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9535:Chrng
|
UTSW |
1 |
87,139,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Chrng
|
UTSW |
1 |
87,138,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Chrng
|
UTSW |
1 |
87,134,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Chrng
|
UTSW |
1 |
87,134,020 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Chrng
|
UTSW |
1 |
87,133,717 (GRCm39) |
missense |
unknown |
|
|
Z1177:Chrng
|
UTSW |
1 |
87,136,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Chrng
|
UTSW |
1 |
87,135,985 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2012-04-20 |
Incidental Mutation