Incidental Mutation 'IGL01666:Chrnd'
| ID |
103315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrnd
|
| Ensembl Gene |
ENSMUSG00000026251 |
| Gene Name |
cholinergic receptor, nicotinic, delta polypeptide |
| Synonyms |
Acrd, Achr-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL01666
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87118329-87127792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87126458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 513
(S513C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073252]
[ENSMUST00000186373]
|
| AlphaFold |
P02716 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073252
AA Change: S513C
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: S513C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
28 |
249 |
4.4e-70 |
PFAM |
|
Pfam:Neur_chan_memb
|
256 |
492 |
1.1e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186373
AA Change: S404C
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: S404C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
1 |
140 |
4.2e-40 |
PFAM |
|
Pfam:Neur_chan_memb
|
147 |
383 |
6.6e-63 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the delta subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The delta subunit together with the alpha subunit forms the ligand-binding site. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
| Csn3 |
T |
C |
5: 88,078,016 (GRCm39) |
V174A |
unknown |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
| Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,038,463 (GRCm39) |
H400R |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
| Matcap2 |
A |
G |
9: 22,342,994 (GRCm39) |
D163G |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,269,702 (GRCm39) |
L687P |
probably damaging |
Het |
| Mrps27 |
A |
G |
13: 99,546,324 (GRCm39) |
E241G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
| Or6d15 |
T |
A |
6: 116,559,296 (GRCm39) |
I204F |
possibly damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
Het |
|
| Other mutations in Chrnd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Chrnd
|
APN |
1 |
87,120,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL00754:Chrnd
|
APN |
1 |
87,123,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00765:Chrnd
|
APN |
1 |
87,123,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03179:Chrnd
|
APN |
1 |
87,123,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Chrnd
|
UTSW |
1 |
87,120,559 (GRCm39) |
splice site |
probably benign |
|
|
R0071:Chrnd
|
UTSW |
1 |
87,120,559 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Chrnd
|
UTSW |
1 |
87,122,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Chrnd
|
UTSW |
1 |
87,120,267 (GRCm39) |
missense |
probably benign |
|
|
R1386:Chrnd
|
UTSW |
1 |
87,120,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1768:Chrnd
|
UTSW |
1 |
87,122,650 (GRCm39) |
missense |
probably benign |
|
|
R1780:Chrnd
|
UTSW |
1 |
87,120,270 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2336:Chrnd
|
UTSW |
1 |
87,122,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Chrnd
|
UTSW |
1 |
87,118,729 (GRCm39) |
nonsense |
probably null |
|
|
R4424:Chrnd
|
UTSW |
1 |
87,123,512 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4467:Chrnd
|
UTSW |
1 |
87,125,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Chrnd
|
UTSW |
1 |
87,119,293 (GRCm39) |
splice site |
probably benign |
|
|
R5701:Chrnd
|
UTSW |
1 |
87,125,380 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5895:Chrnd
|
UTSW |
1 |
87,123,389 (GRCm39) |
splice site |
probably null |
|
|
R6159:Chrnd
|
UTSW |
1 |
87,118,812 (GRCm39) |
missense |
probably benign |
|
|
R6321:Chrnd
|
UTSW |
1 |
87,119,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Chrnd
|
UTSW |
1 |
87,126,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Chrnd
|
UTSW |
1 |
87,118,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Chrnd
|
UTSW |
1 |
87,125,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7420:Chrnd
|
UTSW |
1 |
87,122,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7996:Chrnd
|
UTSW |
1 |
87,118,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Chrnd
|
UTSW |
1 |
87,120,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Chrnd
|
UTSW |
1 |
87,119,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Chrnd
|
UTSW |
1 |
87,122,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Chrnd
|
UTSW |
1 |
87,120,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Chrnd
|
UTSW |
1 |
87,118,792 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation