Incidental Mutation 'R5701:Chrnd'
| ID |
450874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrnd
|
| Ensembl Gene |
ENSMUSG00000026251 |
| Gene Name |
cholinergic receptor, nicotinic, delta polypeptide |
| Synonyms |
Acrd, Achr-4 |
| MMRRC Submission |
043181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R5701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87118329-87127792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87125380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 340
(V340I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073252]
[ENSMUST00000186373]
|
| AlphaFold |
P02716 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073252
AA Change: V449I
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: V449I
| 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 |
possibly damaging
Transcript: ENSMUST00000186373
AA Change: V340I
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: V340I
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
A |
G |
2: 153,241,409 (GRCm39) |
E653G |
probably damaging |
Het |
| AW551984 |
G |
A |
9: 39,504,118 (GRCm39) |
A616V |
probably benign |
Het |
| Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,975,509 (GRCm39) |
M727K |
probably benign |
Het |
| Cand2 |
T |
G |
6: 115,774,893 (GRCm39) |
F1034V |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,936,741 (GRCm39) |
V722A |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,751,366 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,513,617 (GRCm39) |
E1920G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,403,729 (GRCm39) |
F194I |
probably damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,556 (GRCm39) |
|
probably null |
Het |
| Defa28 |
T |
C |
8: 22,073,863 (GRCm39) |
Y89H |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,996,001 (GRCm39) |
G2705E |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,250 (GRCm39) |
S104T |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,485,696 (GRCm39) |
S228P |
unknown |
Het |
| Gabrb2 |
T |
A |
11: 42,378,201 (GRCm39) |
M139K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,265 (GRCm39) |
N592I |
possibly damaging |
Het |
| Gpr158 |
C |
T |
2: 21,751,520 (GRCm39) |
R480C |
probably damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,008 (GRCm39) |
D71G |
probably benign |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Il9r |
T |
A |
11: 32,143,263 (GRCm39) |
Y231F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,438,816 (GRCm39) |
M494T |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,519,015 (GRCm39) |
V2365A |
probably benign |
Het |
| Kri1 |
T |
A |
9: 21,192,425 (GRCm39) |
K241M |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,397,018 (GRCm39) |
C928S |
probably damaging |
Het |
| Mcm2 |
T |
C |
6: 88,870,073 (GRCm39) |
D32G |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,217,379 (GRCm39) |
T613A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,675,964 (GRCm39) |
I241V |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,165,809 (GRCm39) |
T398I |
probably damaging |
Het |
| Nckap1l |
G |
A |
15: 103,381,195 (GRCm39) |
A366T |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,168 (GRCm39) |
T254A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,567,220 (GRCm39) |
W857R |
possibly damaging |
Het |
| Raxos1 |
G |
A |
18: 66,071,059 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Slc66a2 |
T |
A |
18: 80,315,693 (GRCm39) |
D118E |
possibly damaging |
Het |
| Synpo2 |
C |
G |
3: 122,873,879 (GRCm39) |
G1029A |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
17: 51,106,983 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,816 (GRCm39) |
Y392C |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,492 (GRCm39) |
F304L |
probably benign |
Het |
| Zfp316 |
C |
T |
5: 143,240,132 (GRCm39) |
G629D |
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 |
|
|
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 |
|
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 |
|
|
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'- GTTCTGGTAGCCTTGGAACG -3'
(R):5'- TGTGTGTACCCCTGAGCTTG -3'
Sequencing Primer
(F):5'- AACGTGGCCCATGTGTG -3'
(R):5'- CCTTCCTGGAGAATGTATGCCAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation