Incidental Mutation 'R3758:Or52r1b'
| ID |
271525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52r1b
|
| Ensembl Gene |
ENSMUSG00000073961 |
| Gene Name |
olfactory receptor family 52 subfamily R member 1B |
| Synonyms |
MOR30-3, Olfr582, GA_x6K02T2PBJ9-5752857-5753801 |
| MMRRC Submission |
040739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3758 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102690688-102691647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102691177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 159
(S159G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098212]
[ENSMUST00000210119]
[ENSMUST00000211036]
[ENSMUST00000214021]
|
| AlphaFold |
Q8VGV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098212
AA Change: S164G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: S164G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
317 |
2.2e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
42 |
179 |
1.6e-10 |
PFAM |
|
Pfam:7tm_1
|
48 |
299 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210119
AA Change: S159G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211036
AA Change: S159G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214021
AA Change: S159G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0818 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
93% (28/30) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,146,354 (GRCm39) |
|
probably benign |
Het |
| Bcat1 |
T |
A |
6: 144,978,598 (GRCm39) |
I208F |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
| Cd200r3 |
T |
G |
16: 44,784,991 (GRCm39) |
|
probably null |
Het |
| Coq8b |
C |
T |
7: 26,941,652 (GRCm39) |
Q246* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,363 (GRCm39) |
S616P |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,313,451 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
G |
T |
11: 42,066,763 (GRCm39) |
D50E |
probably benign |
Het |
| H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,406 (GRCm39) |
N103S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,314 (GRCm39) |
H2549R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,602 (GRCm39) |
N706D |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,996,628 (GRCm39) |
|
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,862,558 (GRCm39) |
N1457S |
possibly damaging |
Het |
| Nipa2 |
T |
C |
7: 55,585,689 (GRCm39) |
Y102C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,631,641 (GRCm39) |
C32* |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,916 (GRCm39) |
F105L |
probably benign |
Het |
| Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,079 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,219,571 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sprr1a |
T |
G |
3: 92,391,704 (GRCm39) |
K99T |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,877,924 (GRCm39) |
V133A |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,915,768 (GRCm39) |
T391A |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,035 (GRCm39) |
E447G |
probably damaging |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
| Other mutations in Or52r1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01946:Or52r1b
|
APN |
7 |
102,691,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02236:Or52r1b
|
APN |
7 |
102,690,928 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02448:Or52r1b
|
APN |
7 |
102,691,604 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03056:Or52r1b
|
APN |
7 |
102,690,958 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03351:Or52r1b
|
APN |
7 |
102,691,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Or52r1b
|
APN |
7 |
102,690,972 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1762:Or52r1b
|
UTSW |
7 |
102,691,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Or52r1b
|
UTSW |
7 |
102,690,731 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4668:Or52r1b
|
UTSW |
7 |
102,691,058 (GRCm39) |
missense |
probably benign |
|
|
R5568:Or52r1b
|
UTSW |
7 |
102,691,517 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5573:Or52r1b
|
UTSW |
7 |
102,691,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Or52r1b
|
UTSW |
7 |
102,690,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7112:Or52r1b
|
UTSW |
7 |
102,690,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7223:Or52r1b
|
UTSW |
7 |
102,690,839 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7875:Or52r1b
|
UTSW |
7 |
102,691,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATATCATGCCTGCCTCATCC -3'
(R):5'- AGCACAGCTCTCAGAATCATTG -3'
Sequencing Primer
(F):5'- ATCCAGGTGTTCTTCATACATGC -3'
(R):5'- CAGCTCTCAGAATCATTGCATAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation