Incidental Mutation 'R6287:Or10g3'
| ID |
508282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10g3
|
| Ensembl Gene |
ENSMUSG00000094140 |
| Gene Name |
olfactory receptor family 10 subfamily G member 3 |
| Synonyms |
GA_x6K02T2RJGY-622120-623061, MOR223-5, Olfr1512 |
| MMRRC Submission |
044457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52609567-52610508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52609748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 254
(V254E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071221]
[ENSMUST00000214980]
|
| AlphaFold |
Q8VF72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071221
AA Change: V254E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071208
Gene: ENSMUSG00000094140
AA Change: V254E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
2.1e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.9e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200261
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214980
AA Change: V254E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
94% (34/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
| C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
| Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
| Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
| Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
| Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,712,268 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
| Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
| Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
| Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,066,061 (GRCm39) |
Y352* |
probably null |
Het |
| Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
T |
1: 186,481,373 (GRCm39) |
S45T |
probably benign |
Het |
| Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
| Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
| Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,833 (GRCm39) |
L336P |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,931,041 (GRCm39) |
A335T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
G |
A |
7: 29,635,201 (GRCm39) |
T169I |
probably benign |
Het |
| Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
probably damaging |
Het |
|
| Other mutations in Or10g3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Or10g3
|
APN |
14 |
52,609,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01375:Or10g3
|
APN |
14 |
52,609,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02343:Or10g3
|
APN |
14 |
52,609,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Or10g3
|
UTSW |
14 |
52,610,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Or10g3
|
UTSW |
14 |
52,610,174 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1903:Or10g3
|
UTSW |
14 |
52,610,174 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3115:Or10g3
|
UTSW |
14 |
52,610,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Or10g3
|
UTSW |
14 |
52,609,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Or10g3
|
UTSW |
14 |
52,609,725 (GRCm39) |
nonsense |
probably null |
|
|
R5689:Or10g3
|
UTSW |
14 |
52,610,214 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6185:Or10g3
|
UTSW |
14 |
52,610,019 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6757:Or10g3
|
UTSW |
14 |
52,610,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Or10g3
|
UTSW |
14 |
52,610,420 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8855:Or10g3
|
UTSW |
14 |
52,610,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Or10g3
|
UTSW |
14 |
52,610,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Or10g3
|
UTSW |
14 |
52,609,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Or10g3
|
UTSW |
14 |
52,610,110 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCTGGGTGTCTCCTCAG -3'
(R):5'- TACCACAGTCAATGAGTTGGTG -3'
Sequencing Primer
(F):5'- GAGGTGCTCAGACCTCACTCTTAG -3'
(R):5'- CACAGTCAATGAGTTGGTGACCTTTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation