Incidental Mutation 'R3083:Or8b52'
ID |
264069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or8b52
|
Ensembl Gene |
ENSMUSG00000063225 |
Gene Name |
olfactory receptor family 8 subfamily B member 52 |
Synonyms |
MOR168-2P, GA_x6K02T2PVTD-32368166-32367237, Olfr917 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R3083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
38576209-38577138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38576912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 76
(V76A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076542]
[ENSMUST00000215461]
|
AlphaFold |
Q7TRC3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076542
AA Change: V76A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075857 Gene: ENSMUSG00000063225 AA Change: V76A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
3.2e-42 |
PFAM |
Pfam:7tm_1
|
41 |
289 |
3e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213750
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217596
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,842,726 (GRCm39) |
D359G |
probably damaging |
Het |
Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,813,363 (GRCm39) |
N1441D |
probably benign |
Het |
Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gm15446 |
A |
G |
5: 110,091,158 (GRCm39) |
N470S |
possibly damaging |
Het |
Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
H2bc27 |
A |
G |
11: 58,839,802 (GRCm39) |
K13E |
probably benign |
Het |
Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
Lrp1b |
A |
T |
2: 40,490,336 (GRCm39) |
M275K |
probably damaging |
Het |
Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
Nlrp5 |
T |
C |
7: 23,129,588 (GRCm39) |
F885S |
probably benign |
Het |
Or12d2 |
T |
C |
17: 37,625,086 (GRCm39) |
N63S |
probably damaging |
Het |
Or4c122 |
A |
C |
2: 89,079,345 (GRCm39) |
V231G |
probably damaging |
Het |
Plcl2 |
T |
A |
17: 50,994,772 (GRCm39) |
N1080K |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 184,936,466 (GRCm39) |
S10T |
probably benign |
Het |
Rtca |
G |
A |
3: 116,301,674 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
G |
2: 66,129,981 (GRCm39) |
F1278S |
probably damaging |
Het |
Slitrk3 |
T |
C |
3: 72,955,928 (GRCm39) |
D948G |
probably benign |
Het |
Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
Ssh3 |
C |
T |
19: 4,312,587 (GRCm39) |
R586H |
probably benign |
Het |
Tomm40l |
A |
T |
1: 171,048,780 (GRCm39) |
L78H |
probably damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,296,788 (GRCm39) |
S666P |
probably damaging |
Het |
|
Other mutations in Or8b52 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01309:Or8b52
|
APN |
9 |
38,576,289 (GRCm39) |
missense |
probably benign |
|
IGL02704:Or8b52
|
APN |
9 |
38,577,063 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0529:Or8b52
|
UTSW |
9 |
38,576,808 (GRCm39) |
missense |
probably benign |
0.11 |
R1575:Or8b52
|
UTSW |
9 |
38,576,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Or8b52
|
UTSW |
9 |
38,576,616 (GRCm39) |
missense |
probably benign |
|
R2941:Or8b52
|
UTSW |
9 |
38,576,322 (GRCm39) |
missense |
probably damaging |
0.98 |
R4450:Or8b52
|
UTSW |
9 |
38,577,050 (GRCm39) |
missense |
probably benign |
0.17 |
R4755:Or8b52
|
UTSW |
9 |
38,577,128 (GRCm39) |
missense |
probably benign |
|
R4774:Or8b52
|
UTSW |
9 |
38,576,519 (GRCm39) |
missense |
probably benign |
0.21 |
R5322:Or8b52
|
UTSW |
9 |
38,576,502 (GRCm39) |
missense |
probably benign |
0.24 |
R5577:Or8b52
|
UTSW |
9 |
38,576,297 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6101:Or8b52
|
UTSW |
9 |
38,576,916 (GRCm39) |
missense |
probably damaging |
0.99 |
R6105:Or8b52
|
UTSW |
9 |
38,576,916 (GRCm39) |
missense |
probably damaging |
0.99 |
R7084:Or8b52
|
UTSW |
9 |
38,576,565 (GRCm39) |
missense |
probably benign |
0.04 |
R8048:Or8b52
|
UTSW |
9 |
38,577,108 (GRCm39) |
missense |
probably benign |
0.03 |
R8280:Or8b52
|
UTSW |
9 |
38,576,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8676:Or8b52
|
UTSW |
9 |
38,577,064 (GRCm39) |
missense |
probably benign |
0.02 |
R8924:Or8b52
|
UTSW |
9 |
38,576,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R9087:Or8b52
|
UTSW |
9 |
38,576,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R9117:Or8b52
|
UTSW |
9 |
38,577,106 (GRCm39) |
missense |
probably benign |
0.03 |
R9220:Or8b52
|
UTSW |
9 |
38,576,803 (GRCm39) |
nonsense |
probably null |
|
R9317:Or8b52
|
UTSW |
9 |
38,576,655 (GRCm39) |
missense |
probably benign |
0.00 |
R9318:Or8b52
|
UTSW |
9 |
38,576,580 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGGAAACAAGCATTAGGTTCAAGC -3'
(R):5'- GGTGGGATTAACTGACAAGCC -3'
Sequencing Primer
(F):5'- GGTTCAAGCATAATTTAGAGGACATG -3'
(R):5'- GGTGGGATTAACTGACAAGCCTTATC -3'
|
Posted On |
2015-02-05 |