Incidental Mutation 'R8501:Chrnd'
| ID |
655307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrnd
|
| Ensembl Gene |
ENSMUSG00000026251 |
| Gene Name |
cholinergic receptor, nicotinic, delta polypeptide |
| Synonyms |
Acrd, Achr-4 |
| MMRRC Submission |
067838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R8501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87118329-87127792 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87120338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 165
(W165R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044533]
[ENSMUST00000073252]
[ENSMUST00000186373]
|
| AlphaFold |
P02716 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044533
|
| SMART Domains |
Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:Tryp_SPc
|
58 |
103 |
1e-5 |
BLAST |
|
Tryp_SPc
|
108 |
336 |
1.17e-84 |
SMART |
|
Blast:Tryp_SPc
|
340 |
385 |
4e-9 |
BLAST |
|
low complexity region
|
386 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
422 |
N/A |
INTRINSIC |
|
Blast:Tryp_SPc
|
432 |
499 |
1e-5 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073252
AA Change: W165R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251
AA Change: W165R
| 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: W56R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251
AA Change: W56R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,844,724 (GRCm39) |
V98M |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,304,420 (GRCm39) |
S1146P |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 45,003,294 (GRCm39) |
D207E |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,355,980 (GRCm39) |
V1244A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,266,247 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
G |
T |
4: 83,581,895 (GRCm39) |
E675* |
probably null |
Het |
| Cep68 |
A |
T |
11: 20,189,132 (GRCm39) |
S627T |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,439,391 (GRCm39) |
A791D |
probably damaging |
Het |
| Dlg2 |
C |
A |
7: 92,024,930 (GRCm39) |
S598R |
probably damaging |
Het |
| Elfn2 |
G |
T |
15: 78,558,500 (GRCm39) |
Q16K |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,618,540 (GRCm39) |
M434K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igf2 |
G |
C |
7: 142,207,779 (GRCm39) |
P106R |
probably damaging |
Het |
| Klf7 |
T |
C |
1: 64,118,322 (GRCm39) |
S92G |
probably benign |
Het |
| Mme |
T |
A |
3: 63,234,156 (GRCm39) |
M73K |
probably damaging |
Het |
| Musk |
G |
C |
4: 58,367,502 (GRCm39) |
K588N |
probably damaging |
Het |
| Naa30 |
C |
A |
14: 49,410,353 (GRCm39) |
H94N |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nfya |
A |
G |
17: 48,706,017 (GRCm39) |
L52P |
unknown |
Het |
| Or14j5 |
A |
G |
17: 38,161,756 (GRCm39) |
Y91C |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,809 (GRCm39) |
N265S |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,818 (GRCm39) |
H54Q |
|
Het |
| Otogl |
A |
T |
10: 107,626,421 (GRCm39) |
M1481K |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,962,562 (GRCm39) |
D440G |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,493 (GRCm39) |
T624S |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,178,611 (GRCm39) |
Y1769H |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,215,575 (GRCm39) |
V913E |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,733,053 (GRCm39) |
E211G |
possibly damaging |
Het |
| Rcc2 |
T |
C |
4: 140,443,237 (GRCm39) |
L305P |
probably damaging |
Het |
| Rgs3 |
G |
T |
4: 62,521,193 (GRCm39) |
V47F |
possibly damaging |
Het |
| Scly |
A |
G |
1: 91,246,798 (GRCm39) |
S370G |
probably damaging |
Het |
| Setmar |
T |
A |
6: 108,052,822 (GRCm39) |
D105E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
| Sp140 |
A |
T |
1: 85,569,461 (GRCm39) |
N357I |
probably damaging |
Het |
| Trim30c |
G |
C |
7: 104,036,677 (GRCm39) |
T227R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,058,897 (GRCm39) |
V1014I |
probably damaging |
Het |
| Vmn1r151 |
A |
T |
7: 22,199,034 (GRCm39) |
F24I |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,570,094 (GRCm39) |
V204A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,484 (GRCm39) |
D1681G |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,897,414 (GRCm39) |
V573A |
probably benign |
Het |
| Wfdc2 |
A |
G |
2: 164,405,279 (GRCm39) |
D44G |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,397,272 (GRCm39) |
N75I |
probably 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 |
|
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 |
|
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'- GTGGCTACCAGAGATTGTACTG -3'
(R):5'- AACAGGGCTTCTGAGGGTAG -3'
Sequencing Primer
(F):5'- CAGAGATTGTACTGGAGAACAAGTTG -3'
(R):5'- CTTCTGAGGGTAGGAGGTGGTAGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation