Incidental Mutation 'R6565:Or51a5'
ID |
522623 |
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 |
044689-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R6565 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
102771036-102771989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102771445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 178
(H178R)
|
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: H182R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081872 Gene: ENSMUSG00000066268 AA Change: H182R
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: H178R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213281
AA Change: H178R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215304
AA Change: H178R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
B4galnt3 |
G |
A |
6: 120,194,440 (GRCm39) |
Q362* |
probably null |
Het |
Cadm3 |
G |
T |
1: 173,169,276 (GRCm39) |
Q246K |
possibly damaging |
Het |
Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,206,429 (GRCm39) |
N138S |
probably damaging |
Het |
Hmgb4 |
T |
A |
4: 128,154,388 (GRCm39) |
Y60F |
probably benign |
Het |
Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
Iigp1 |
T |
A |
18: 60,523,839 (GRCm39) |
V319E |
probably damaging |
Het |
Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
Tapbpl |
A |
G |
6: 125,205,307 (GRCm39) |
V213A |
probably benign |
Het |
Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
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 |
R1112:Or51a5
|
UTSW |
7 |
102,771,611 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACAAGTACTGAGGACCTTGAGTC -3'
(R):5'- CTCAGCTATGGAGTCATCTGTG -3'
Sequencing Primer
(F):5'- AAGTACTGAGGACCTTGAGTCTTTCC -3'
(R):5'- AGCTATGGAGTCATCTGTGCTTCTC -3'
|
Posted On |
2018-06-06 |