Incidental Mutation 'R8380:Or10c1'
| ID |
646922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10c1
|
| Ensembl Gene |
ENSMUSG00000049561 |
| Gene Name |
olfactory receptor family 10 subfamily C member 1 |
| Synonyms |
Olfr95, GA_x6K02T2PSCP-1651760-1650822, MOR263-6 |
| MMRRC Submission |
067747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37521804-37522742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37522232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 171
(N171Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060728]
[ENSMUST00000216318]
|
| AlphaFold |
Q8VFE2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060728
AA Change: N171Y
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058929
Gene: ENSMUSG00000049561
AA Change: N171Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
1.9e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
259 |
1.7e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
2.2e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216318
AA Change: N171Y
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,275,006 (GRCm39) |
V576I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,995,219 (GRCm39) |
V5501A |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,250,467 (GRCm39) |
T426A |
probably benign |
Het |
| Armc7 |
G |
T |
11: 115,366,726 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,556,042 (GRCm39) |
E239G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,191 (GRCm39) |
D171G |
probably benign |
Het |
| Cenpc1 |
C |
A |
5: 86,194,275 (GRCm39) |
A164S |
probably benign |
Het |
| Cep131 |
T |
A |
11: 119,967,854 (GRCm39) |
R134W |
probably damaging |
Het |
| Chek1 |
T |
A |
9: 36,623,408 (GRCm39) |
N422I |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,531,651 (GRCm39) |
E718G |
probably damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,175,669 (GRCm39) |
C13Y |
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,697,411 (GRCm39) |
T52M |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,327,073 (GRCm39) |
R674L |
probably benign |
Het |
| Lrrc36 |
T |
A |
8: 106,153,460 (GRCm39) |
V90E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,087,823 (GRCm39) |
Y5459H |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,877,489 (GRCm39) |
M484K |
probably damaging |
Het |
| Or10q1b |
T |
C |
19: 13,682,608 (GRCm39) |
I139T |
probably benign |
Het |
| Or11g26 |
T |
C |
14: 50,753,297 (GRCm39) |
V212A |
probably benign |
Het |
| Papss1 |
C |
T |
3: 131,337,456 (GRCm39) |
P539L |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 46,370,572 (GRCm39) |
M243L |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,657,438 (GRCm39) |
H303Y |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,135,619 (GRCm39) |
T328A |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Scaf4 |
A |
G |
16: 90,057,133 (GRCm39) |
S73P |
unknown |
Het |
| Snrpa |
G |
T |
7: 26,886,713 (GRCm39) |
Q261K |
possibly damaging |
Het |
| Top1 |
A |
G |
2: 160,559,315 (GRCm39) |
N613D |
probably benign |
Het |
| Vill |
A |
G |
9: 118,886,917 (GRCm39) |
T21A |
probably benign |
Het |
| Wdr1 |
C |
G |
5: 38,697,864 (GRCm39) |
D234H |
possibly damaging |
Het |
|
| Other mutations in Or10c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02147:Or10c1
|
APN |
17 |
37,521,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Or10c1
|
APN |
17 |
37,522,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Or10c1
|
UTSW |
17 |
37,521,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0668:Or10c1
|
UTSW |
17 |
37,522,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0909:Or10c1
|
UTSW |
17 |
37,521,809 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1442:Or10c1
|
UTSW |
17 |
37,522,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1557:Or10c1
|
UTSW |
17 |
37,522,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Or10c1
|
UTSW |
17 |
37,522,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3195:Or10c1
|
UTSW |
17 |
37,522,427 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3749:Or10c1
|
UTSW |
17 |
37,522,691 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3778:Or10c1
|
UTSW |
17 |
37,522,649 (GRCm39) |
missense |
probably benign |
|
|
R4458:Or10c1
|
UTSW |
17 |
37,522,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4591:Or10c1
|
UTSW |
17 |
37,522,010 (GRCm39) |
missense |
probably benign |
|
|
R5058:Or10c1
|
UTSW |
17 |
37,522,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Or10c1
|
UTSW |
17 |
37,522,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5903:Or10c1
|
UTSW |
17 |
37,521,912 (GRCm39) |
nonsense |
probably null |
|
|
R6294:Or10c1
|
UTSW |
17 |
37,522,517 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6689:Or10c1
|
UTSW |
17 |
37,522,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Or10c1
|
UTSW |
17 |
37,522,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Or10c1
|
UTSW |
17 |
37,522,386 (GRCm39) |
nonsense |
probably null |
|
|
R8132:Or10c1
|
UTSW |
17 |
37,522,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Or10c1
|
UTSW |
17 |
37,522,075 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9716:Or10c1
|
UTSW |
17 |
37,522,355 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTGGAGAAGGCTTTGC -3'
(R):5'- TTTTCTTTGGTGCCACCGAG -3'
Sequencing Primer
(F):5'- AGAAGGCTTTGCGGCGAC -3'
(R):5'- ACCGAGTGCTGCCTGCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation