Incidental Mutation 'IGL03179:Chrnd'
| ID |
412128 |
| 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 # |
IGL03179
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87118329-87127792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87123502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 347
(S347P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073252]
[ENSMUST00000186373]
|
| AlphaFold |
P02716 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073252
AA Change: S347P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: S347P
| 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 damaging
Transcript: ENSMUST00000186373
AA Change: S238P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: S238P
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
A |
14: 78,745,180 (GRCm39) |
H1736L |
probably benign |
Het |
| App |
A |
G |
16: 84,879,735 (GRCm39) |
C133R |
probably damaging |
Het |
| Atxn7l2 |
G |
T |
3: 108,110,963 (GRCm39) |
C524* |
probably null |
Het |
| Cckbr |
T |
C |
7: 105,084,130 (GRCm39) |
V288A |
probably benign |
Het |
| Ccr1l1 |
T |
C |
9: 123,777,787 (GRCm39) |
Y220C |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,614,417 (GRCm39) |
F47I |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,403,950 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Clcn5 |
T |
A |
X: 7,029,565 (GRCm39) |
|
probably null |
Het |
| D6Wsu163e |
A |
G |
6: 126,927,074 (GRCm39) |
D187G |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,044,634 (GRCm39) |
I1852F |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,832,777 (GRCm39) |
G861D |
probably damaging |
Het |
| Fcnb |
A |
G |
2: 27,966,646 (GRCm39) |
S296P |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,073 (GRCm39) |
R233K |
probably benign |
Het |
| Gm21985 |
G |
A |
2: 112,188,900 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Gpc3 |
A |
T |
X: 51,486,090 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,280,044 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,781 (GRCm39) |
E370G |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,163,148 (GRCm39) |
I326F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,066,653 (GRCm39) |
L5906Q |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,903,888 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,381,938 (GRCm39) |
N17S |
possibly damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,279 (GRCm39) |
|
probably benign |
Het |
| Or6s1 |
T |
C |
14: 51,308,467 (GRCm39) |
I128V |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,811,763 (GRCm39) |
Y358C |
possibly damaging |
Het |
| Pex10 |
A |
C |
4: 155,152,354 (GRCm39) |
I61L |
probably benign |
Het |
| Phax |
T |
C |
18: 56,713,364 (GRCm39) |
F248L |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,987,397 (GRCm39) |
D366E |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,830,085 (GRCm39) |
Y205H |
possibly damaging |
Het |
| Pparg |
T |
A |
6: 115,416,833 (GRCm39) |
W9R |
probably damaging |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,796,434 (GRCm39) |
G89S |
possibly damaging |
Het |
| Prex1 |
C |
T |
2: 166,427,114 (GRCm39) |
S867N |
probably benign |
Het |
| Pyroxd2 |
T |
A |
19: 42,736,001 (GRCm39) |
N59I |
possibly damaging |
Het |
| Rnf135 |
T |
A |
11: 80,084,837 (GRCm39) |
S203R |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,758,289 (GRCm39) |
N605I |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Slc25a14 |
T |
C |
X: 47,726,317 (GRCm39) |
S152P |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,527,571 (GRCm39) |
F436I |
probably damaging |
Het |
| Tgfa |
T |
C |
6: 86,248,403 (GRCm39) |
L135P |
probably benign |
Het |
| Tgif1 |
T |
C |
17: 71,151,942 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Tmc2 |
G |
A |
2: 130,071,107 (GRCm39) |
E279K |
probably damaging |
Het |
| Tnks |
G |
T |
8: 35,315,824 (GRCm39) |
N987K |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,876,676 (GRCm39) |
E209G |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,468 (GRCm39) |
I497L |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,800,734 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,720,086 (GRCm39) |
I193V |
possibly damaging |
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 |
|
IGL01666:Chrnd
|
APN |
1 |
87,126,458 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
2016-08-02 |
Incidental Mutation