Incidental Mutation 'R1112:Or51a5'
| ID |
96837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a5
|
| Ensembl Gene |
ENSMUSG00000066268 |
| Gene Name |
olfactory receptor family 51 subfamily A member 5 |
| Synonyms |
MOR8-7, MOR8-2, GA_x6K02T2PBJ9-5836380-5835439, Olfr586 |
| MMRRC Submission |
039185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R1112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102771036-102771989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102771611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 123
(D123N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084811]
[ENSMUST00000211075]
[ENSMUST00000213281]
[ENSMUST00000215304]
|
| AlphaFold |
Q8VH13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084811
AA Change: D127N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081872
Gene: ENSMUSG00000066268
AA Change: D127N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
315 |
6.1e-111 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
312 |
1.6e-11 |
PFAM |
|
Pfam:7tm_1
|
47 |
297 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211075
AA Change: D123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213281
AA Change: D123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215304
AA Change: D123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
| Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
| Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
| Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
| Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
| Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
| Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
| Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Or51a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02708:Or51a5
|
APN |
7 |
102,771,027 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0502:Or51a5
|
UTSW |
7 |
102,771,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0503:Or51a5
|
UTSW |
7 |
102,771,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0508:Or51a5
|
UTSW |
7 |
102,771,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0882:Or51a5
|
UTSW |
7 |
102,771,782 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0962:Or51a5
|
UTSW |
7 |
102,771,217 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2226:Or51a5
|
UTSW |
7 |
102,771,115 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4285:Or51a5
|
UTSW |
7 |
102,771,867 (GRCm39) |
nonsense |
probably null |
|
|
R5817:Or51a5
|
UTSW |
7 |
102,771,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6342:Or51a5
|
UTSW |
7 |
102,771,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6380:Or51a5
|
UTSW |
7 |
102,771,136 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6565:Or51a5
|
UTSW |
7 |
102,771,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Or51a5
|
UTSW |
7 |
102,771,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7921:Or51a5
|
UTSW |
7 |
102,771,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF020:Or51a5
|
UTSW |
7 |
102,771,098 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Or51a5
|
UTSW |
7 |
102,771,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTGAGAGCCACAAATAAGCC -3'
(R):5'- AATCGGAGCCTTCTCTGCATGAAC -3'
Sequencing Primer
(F):5'- GCAGGCCAGTTTCATGACATC -3'
(R):5'- GCATGAACCCATGTACTATTTCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation