Incidental Mutation 'R2336:Chrnd'
| ID |
246539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrnd
|
| Ensembl Gene |
ENSMUSG00000026251 |
| Gene Name |
cholinergic receptor, nicotinic, delta polypeptide |
| Synonyms |
Acrd, Achr-4 |
| MMRRC Submission |
040323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R2336 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87118329-87127792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87122615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 132
(F132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073252]
[ENSMUST00000186373]
|
| AlphaFold |
P02716 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073252
AA Change: F241S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: F241S
| 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: F132S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: F132S
| 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
|
| Meta Mutation Damage Score |
0.9209 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
A |
1: 181,055,206 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
G |
A |
2: 20,884,862 (GRCm39) |
R772C |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,260,430 (GRCm39) |
E393G |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,799,874 (GRCm39) |
T417I |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,378 (GRCm39) |
K173R |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,189,510 (GRCm39) |
N1497K |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,300 (GRCm39) |
V349A |
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,121,976 (GRCm39) |
M164V |
possibly damaging |
Het |
| Dtwd2 |
A |
G |
18: 49,833,320 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,143,571 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
A |
G |
12: 77,459,730 (GRCm39) |
|
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,250,313 (GRCm39) |
T104M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 78,915,180 (GRCm39) |
R16H |
probably benign |
Het |
| Gnb2 |
A |
T |
5: 137,527,460 (GRCm39) |
W125R |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,477,651 (GRCm39) |
D512N |
probably damaging |
Het |
| Hnf4g |
T |
C |
3: 3,706,284 (GRCm39) |
F60L |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,484,546 (GRCm39) |
I359T |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 111,051,283 (GRCm39) |
D325G |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,821,856 (GRCm39) |
I222K |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,330,189 (GRCm39) |
H107L |
possibly damaging |
Het |
| Obi1 |
G |
A |
14: 104,716,318 (GRCm39) |
P685L |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,689 (GRCm39) |
Y258F |
probably benign |
Het |
| Or2r11 |
A |
G |
6: 42,437,663 (GRCm39) |
C97R |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,006,121 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
A |
T |
2: 132,223,359 (GRCm39) |
M61K |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,137,965 (GRCm39) |
C502R |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,698,192 (GRCm39) |
W172R |
probably damaging |
Het |
| Rdh16f1 |
A |
G |
10: 127,624,624 (GRCm39) |
K154R |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,305,430 (GRCm39) |
E554K |
probably benign |
Het |
| St3gal6 |
A |
T |
16: 58,314,067 (GRCm39) |
I22K |
probably damaging |
Het |
| Tut7 |
G |
T |
13: 59,946,868 (GRCm39) |
P585Q |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,782,258 (GRCm39) |
R387* |
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,470 (GRCm39) |
N643S |
probably benign |
Het |
| Zdbf2 |
G |
T |
1: 63,342,623 (GRCm39) |
R334L |
probably benign |
Het |
| Zfp868 |
G |
T |
8: 70,066,558 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCAAGCCTTAGACAGC -3'
(R):5'- TGCGATTCCTGCCTGAGTTC -3'
Sequencing Primer
(F):5'- GCCTTAGACAGCACCCTTG -3'
(R):5'- GCCTGAGTTCTTATTCACAATGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation