Incidental Mutation 'IGL00754:Chrnd'
| ID |
9708 |
| 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: 0.131)
|
| Stock # |
IGL00754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87118329-87127792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87123506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 348
(E348A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073252]
[ENSMUST00000186373]
|
| AlphaFold |
P02716 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073252
AA Change: E348A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: E348A
| 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: E239A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: E239A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189970
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,848,040 (GRCm39) |
G483R |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,150,968 (GRCm39) |
I816V |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,232 (GRCm39) |
Q77R |
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,386,649 (GRCm39) |
|
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,036 (GRCm39) |
M697V |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Ctnnbl1 |
A |
T |
2: 157,661,461 (GRCm39) |
S324C |
possibly damaging |
Het |
| Dgkb |
C |
A |
12: 38,488,567 (GRCm39) |
N644K |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,051,697 (GRCm39) |
L1720* |
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,197,967 (GRCm39) |
|
probably benign |
Het |
| Eif1b |
G |
T |
9: 120,323,686 (GRCm39) |
C94F |
probably benign |
Het |
| Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,860,837 (GRCm39) |
G96R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,031,026 (GRCm39) |
V86A |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,389 (GRCm39) |
S131R |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,591,708 (GRCm39) |
T382A |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,645,069 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,659,741 (GRCm39) |
D1627G |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,092,221 (GRCm39) |
F406I |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,661,843 (GRCm39) |
L28S |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,026,645 (GRCm39) |
F1255L |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,616,559 (GRCm39) |
S73T |
probably benign |
Het |
| Tnip2 |
T |
C |
5: 34,656,643 (GRCm39) |
I221V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,429 (GRCm39) |
I8859T |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,348 (GRCm39) |
S907P |
possibly damaging |
Het |
| Utp25 |
G |
T |
1: 192,797,309 (GRCm39) |
N514K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,539,236 (GRCm39) |
V1927A |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,070,931 (GRCm39) |
|
probably benign |
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 |
|
|
IGL00765:Chrnd
|
APN |
1 |
87,123,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01666:Chrnd
|
APN |
1 |
87,126,458 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
2012-12-06 |
Incidental Mutation