Incidental Mutation 'R2655:Or51a10'
| ID |
252658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a10
|
| Ensembl Gene |
ENSMUSG00000049797 |
| Gene Name |
olfactory receptor family 51 subfamily A member 10 |
| Synonyms |
MOR13-6, GA_x6K02T2PBJ9-6784380-6783436, Olfr642 |
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103698615-103699559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103698638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 308
(M308V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052660]
[ENSMUST00000074064]
[ENSMUST00000138055]
[ENSMUST00000214299]
|
| AlphaFold |
Q924X8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052660
AA Change: M308V
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000061462
Gene: ENSMUSG00000049797
AA Change: M308V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
8.5e-119 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
1.7e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
4.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074064
|
| SMART Domains |
Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
2.6e-124 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
255 |
3.1e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214299
AA Change: M308V
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Or51a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Or51a10
|
APN |
7 |
103,699,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Or51a10
|
APN |
7 |
103,699,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Or51a10
|
APN |
7 |
103,699,300 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02161:Or51a10
|
APN |
7 |
103,698,797 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02639:Or51a10
|
APN |
7 |
103,698,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
I2289:Or51a10
|
UTSW |
7 |
103,698,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Or51a10
|
UTSW |
7 |
103,698,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1647:Or51a10
|
UTSW |
7 |
103,699,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Or51a10
|
UTSW |
7 |
103,699,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Or51a10
|
UTSW |
7 |
103,699,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2142:Or51a10
|
UTSW |
7 |
103,699,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Or51a10
|
UTSW |
7 |
103,698,845 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6216:Or51a10
|
UTSW |
7 |
103,698,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:Or51a10
|
UTSW |
7 |
103,699,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Or51a10
|
UTSW |
7 |
103,698,947 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7243:Or51a10
|
UTSW |
7 |
103,698,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Or51a10
|
UTSW |
7 |
103,698,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Or51a10
|
UTSW |
7 |
103,699,800 (GRCm39) |
start gained |
probably benign |
|
|
R8316:Or51a10
|
UTSW |
7 |
103,698,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Or51a10
|
UTSW |
7 |
103,698,875 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8836:Or51a10
|
UTSW |
7 |
103,699,055 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9161:Or51a10
|
UTSW |
7 |
103,699,725 (GRCm39) |
start gained |
probably benign |
|
|
R9519:Or51a10
|
UTSW |
7 |
103,698,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or51a10
|
UTSW |
7 |
103,699,480 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGTATCTTACATGCAACAC -3'
(R):5'- TTGCCTCCAGGGAAGAAAGG -3'
Sequencing Primer
(F):5'- CAACATACACAACATCTATGTGTGTG -3'
(R):5'- GGCTTAAGACACTCAACACATGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation