Incidental Mutation 'R8981:Ric3'
| ID |
683732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ric3
|
| Ensembl Gene |
ENSMUSG00000048330 |
| Gene Name |
RIC3 acetylcholine receptor chaperone |
| Synonyms |
E130307J04Rik |
| MMRRC Submission |
068814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R8981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108633519-108682538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108657043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 100
(I100V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055993]
[ENSMUST00000120876]
[ENSMUST00000147580]
|
| AlphaFold |
Q8BPM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055993
AA Change: I100V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: I100V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIC3
|
15 |
165 |
1.2e-38 |
PFAM |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120876
AA Change: I100V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: I100V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIC3
|
15 |
165 |
3.9e-52 |
PFAM |
|
low complexity region
|
255 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147580
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
| Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,942,365 (GRCm39) |
V12A |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,677 (GRCm39) |
Y283C |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
| Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
| Myorg |
T |
C |
4: 41,498,209 (GRCm39) |
S474G |
possibly damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
| Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
| Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
| Rptor |
T |
G |
11: 119,734,508 (GRCm39) |
S504A |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
| Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,380,883 (GRCm39) |
V326A |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,438,226 (GRCm39) |
E613G |
probably damaging |
Het |
| Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ric3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Ric3
|
APN |
7 |
108,653,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00942:Ric3
|
APN |
7 |
108,653,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02318:Ric3
|
APN |
7 |
108,647,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Ric3
|
APN |
7 |
108,653,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Ric3
|
APN |
7 |
108,637,925 (GRCm39) |
missense |
probably benign |
|
|
R0842:Ric3
|
UTSW |
7 |
108,638,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Ric3
|
UTSW |
7 |
108,638,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2912:Ric3
|
UTSW |
7 |
108,653,660 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2913:Ric3
|
UTSW |
7 |
108,653,660 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3690:Ric3
|
UTSW |
7 |
108,637,817 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4587:Ric3
|
UTSW |
7 |
108,653,570 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5039:Ric3
|
UTSW |
7 |
108,637,930 (GRCm39) |
missense |
probably benign |
|
|
R5636:Ric3
|
UTSW |
7 |
108,638,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Ric3
|
UTSW |
7 |
108,647,269 (GRCm39) |
nonsense |
probably null |
|
|
R8725:Ric3
|
UTSW |
7 |
108,637,924 (GRCm39) |
missense |
probably benign |
|
|
R8884:Ric3
|
UTSW |
7 |
108,637,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9249:Ric3
|
UTSW |
7 |
108,647,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Ric3
|
UTSW |
7 |
108,647,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Ric3
|
UTSW |
7 |
108,653,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Ric3
|
UTSW |
7 |
108,637,997 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9564:Ric3
|
UTSW |
7 |
108,638,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCAACAAGTTCACAAGGAG -3'
(R):5'- ATTGGACCGATTTCCACCTATG -3'
Sequencing Primer
(F):5'- TTCACAAGGAGACAATGAGGCTTTC -3'
(R):5'- TATGATGCATCACCACTCGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation