Incidental Mutation 'R3718:Or10q12'
| ID |
258805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10q12
|
| Ensembl Gene |
ENSMUSG00000047207 |
| Gene Name |
olfactory receptor family 10 subfamily Q member 12 |
| Synonyms |
Olfr1495, GA_x6K02T2RE5P-4101369-4102328, MOR266-9 |
| MMRRC Submission |
040710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R3718 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13745708-13746667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13746428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 241
(R241G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061669]
[ENSMUST00000215930]
[ENSMUST00000216980]
|
| AlphaFold |
Q8VEZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061669
AA Change: R241G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057468
Gene: ENSMUSG00000047207
AA Change: R241G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
1.4e-52 |
PFAM |
|
Pfam:7tm_1
|
45 |
295 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215930
AA Change: R241G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216980
AA Change: R241G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (36/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
C |
15: 41,729,689 (GRCm39) |
D237G |
probably benign |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,408,627 (GRCm39) |
Y2505H |
probably benign |
Het |
| Aspm |
G |
A |
1: 139,418,165 (GRCm39) |
V2965I |
probably benign |
Het |
| Ccna2 |
A |
T |
3: 36,620,387 (GRCm39) |
V285E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
A |
G |
19: 4,973,093 (GRCm39) |
|
probably null |
Het |
| Gng11 |
G |
A |
6: 4,008,078 (GRCm39) |
R47H |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,534,948 (GRCm39) |
E381G |
probably benign |
Het |
| Il9 |
G |
A |
13: 56,627,264 (GRCm39) |
T116I |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,921,107 (GRCm39) |
T129A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,184,499 (GRCm39) |
F401L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,997,162 (GRCm39) |
D1626E |
probably benign |
Het |
| Or4k35 |
A |
G |
2: 111,100,571 (GRCm39) |
V47A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,577,006 (GRCm39) |
|
probably null |
Het |
| Rad54l2 |
A |
G |
9: 106,570,726 (GRCm39) |
V1198A |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
| Slc40a1 |
G |
T |
1: 45,950,151 (GRCm39) |
H434N |
probably benign |
Het |
| Trdv2-1 |
T |
C |
14: 54,183,995 (GRCm39) |
Y76H |
probably benign |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
Het |
| Zc3hav1l |
G |
T |
6: 38,272,060 (GRCm39) |
S236R |
probably damaging |
Het |
|
| Other mutations in Or10q12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01542:Or10q12
|
APN |
19 |
13,745,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Or10q12
|
APN |
19 |
13,746,534 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02088:Or10q12
|
APN |
19 |
13,746,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Or10q12
|
UTSW |
19 |
13,745,874 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1713:Or10q12
|
UTSW |
19 |
13,746,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1859:Or10q12
|
UTSW |
19 |
13,746,088 (GRCm39) |
nonsense |
probably null |
|
|
R3717:Or10q12
|
UTSW |
19 |
13,746,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3881:Or10q12
|
UTSW |
19 |
13,746,144 (GRCm39) |
missense |
probably benign |
|
|
R4370:Or10q12
|
UTSW |
19 |
13,746,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4873:Or10q12
|
UTSW |
19 |
13,746,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Or10q12
|
UTSW |
19 |
13,746,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6335:Or10q12
|
UTSW |
19 |
13,746,144 (GRCm39) |
missense |
probably benign |
|
|
R6352:Or10q12
|
UTSW |
19 |
13,745,828 (GRCm39) |
missense |
probably benign |
|
|
R7038:Or10q12
|
UTSW |
19 |
13,745,715 (GRCm39) |
missense |
probably benign |
|
|
R7107:Or10q12
|
UTSW |
19 |
13,746,525 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7504:Or10q12
|
UTSW |
19 |
13,746,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Or10q12
|
UTSW |
19 |
13,745,709 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R7812:Or10q12
|
UTSW |
19 |
13,746,380 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7852:Or10q12
|
UTSW |
19 |
13,745,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7860:Or10q12
|
UTSW |
19 |
13,745,716 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8183:Or10q12
|
UTSW |
19 |
13,746,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8357:Or10q12
|
UTSW |
19 |
13,745,721 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8457:Or10q12
|
UTSW |
19 |
13,745,721 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8716:Or10q12
|
UTSW |
19 |
13,746,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Or10q12
|
UTSW |
19 |
13,745,780 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGCTCCTATTATGCGCC -3'
(R):5'- AGTGTCAGAAGCTGGTACATG -3'
Sequencing Primer
(F):5'- ATTATGCGCCTGGCCTG -3'
(R):5'- CTGGTACATGGAAGAAAGAGTTCCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation