Incidental Mutation 'R2242:Or13c3'
| ID |
240690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13c3
|
| Ensembl Gene |
ENSMUSG00000049648 |
| Gene Name |
olfactory receptor family 13 subfamily C member 3 |
| Synonyms |
Olfr273, GA_x6K02T2N78B-7137430-7138383, MOR262-8 |
| MMRRC Submission |
040242-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
52855558-52856511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52855769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 248
(V248A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051520]
[ENSMUST00000107670]
[ENSMUST00000215274]
|
| AlphaFold |
Q8VG87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051520
AA Change: V248A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052080
Gene: ENSMUSG00000049648
AA Change: V248A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
314 |
1.3e-55 |
PFAM |
|
Pfam:7tm_1
|
41 |
296 |
1.4e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107670
AA Change: V248A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103297
Gene: ENSMUSG00000049648
AA Change: V248A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
296 |
3.2e-37 |
PFAM |
|
Pfam:7tm_4
|
139 |
289 |
4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215274
AA Change: V248A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,837,460 (GRCm39) |
S630T |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,900 (GRCm39) |
I760V |
possibly damaging |
Het |
| Cdc20 |
A |
G |
4: 118,290,722 (GRCm39) |
V426A |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,796,551 (GRCm39) |
S219G |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,490,054 (GRCm39) |
D603E |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,176,687 (GRCm39) |
Y1205C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,037,828 (GRCm39) |
|
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Eif1ad |
CGAGGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGGAGG |
19: 5,420,086 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
G |
7: 80,031,473 (GRCm39) |
E467A |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,141,604 (GRCm39) |
Q548L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,902,689 (GRCm39) |
C221Y |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,106,755 (GRCm39) |
C1856R |
unknown |
Het |
| Mfsd6 |
G |
T |
1: 52,748,757 (GRCm39) |
P36Q |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or2n1b |
A |
G |
17: 38,459,613 (GRCm39) |
I45V |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,855,755 (GRCm39) |
E65G |
probably benign |
Het |
| Sardh |
A |
T |
2: 27,125,527 (GRCm39) |
V329E |
possibly damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,315,739 (GRCm39) |
S446P |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,077,498 (GRCm39) |
T223A |
probably benign |
Het |
| Wdr47 |
A |
G |
3: 108,526,431 (GRCm39) |
D318G |
probably damaging |
Het |
| Zic4 |
C |
T |
9: 91,260,706 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or13c3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02114:Or13c3
|
APN |
4 |
52,856,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Or13c3
|
UTSW |
4 |
52,856,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Or13c3
|
UTSW |
4 |
52,856,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Or13c3
|
UTSW |
4 |
52,855,566 (GRCm39) |
missense |
probably benign |
|
|
R0831:Or13c3
|
UTSW |
4 |
52,855,764 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1772:Or13c3
|
UTSW |
4 |
52,855,730 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1774:Or13c3
|
UTSW |
4 |
52,855,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1861:Or13c3
|
UTSW |
4 |
52,856,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2080:Or13c3
|
UTSW |
4 |
52,855,568 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3777:Or13c3
|
UTSW |
4 |
52,855,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Or13c3
|
UTSW |
4 |
52,855,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4748:Or13c3
|
UTSW |
4 |
52,856,076 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4880:Or13c3
|
UTSW |
4 |
52,856,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Or13c3
|
UTSW |
4 |
52,855,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5856:Or13c3
|
UTSW |
4 |
52,856,516 (GRCm39) |
start gained |
probably benign |
|
|
R6585:Or13c3
|
UTSW |
4 |
52,856,192 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6862:Or13c3
|
UTSW |
4 |
52,855,695 (GRCm39) |
missense |
probably benign |
|
|
R7378:Or13c3
|
UTSW |
4 |
52,856,421 (GRCm39) |
missense |
probably benign |
|
|
R7649:Or13c3
|
UTSW |
4 |
52,855,692 (GRCm39) |
nonsense |
probably null |
|
|
R8793:Or13c3
|
UTSW |
4 |
52,856,490 (GRCm39) |
missense |
probably benign |
|
|
R9169:Or13c3
|
UTSW |
4 |
52,856,052 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTGATGTCTCTAAGGAACG -3'
(R):5'- GTCCTCAAGCTAGCATGTGC -3'
Sequencing Primer
(F):5'- GATGTCTCTAAGGAACGTACTTTTG -3'
(R):5'- CAAATATGGCCTTCCTGGT -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation