Incidental Mutation 'R0909:Or52p2'
| ID |
83427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52p2
|
| Ensembl Gene |
ENSMUSG00000073974 |
| Gene Name |
olfactory receptor family 52 subfamily P member 2 |
| Synonyms |
Olfr551, MOR29-1, GA_x6K02T2PBJ9-5307445-5306498 |
| MMRRC Submission |
039067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R0909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102236948-102238026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102237654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 99
(C99S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098224]
[ENSMUST00000213540]
|
| AlphaFold |
Q8VG23 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098224
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095827
Gene: ENSMUSG00000073974
AA Change: C99S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
310 |
2.8e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
152 |
2e-9 |
PFAM |
|
Pfam:7tm_1
|
43 |
293 |
1.9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213540
AA Change: C99S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
| Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
| Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
| Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
| Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
| Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
| H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
| Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
| Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
| Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
| Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
| Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
Het |
|
| Other mutations in Or52p2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Or52p2
|
APN |
7 |
102,237,436 (GRCm39) |
nonsense |
probably null |
|
|
IGL03034:Or52p2
|
APN |
7 |
102,237,147 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03076:Or52p2
|
APN |
7 |
102,237,679 (GRCm39) |
missense |
probably benign |
|
|
R0564:Or52p2
|
UTSW |
7 |
102,237,738 (GRCm39) |
missense |
probably benign |
|
|
R0890:Or52p2
|
UTSW |
7 |
102,237,408 (GRCm39) |
nonsense |
probably null |
|
|
R1053:Or52p2
|
UTSW |
7 |
102,237,166 (GRCm39) |
nonsense |
probably null |
|
|
R4708:Or52p2
|
UTSW |
7 |
102,237,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4932:Or52p2
|
UTSW |
7 |
102,237,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6248:Or52p2
|
UTSW |
7 |
102,237,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6343:Or52p2
|
UTSW |
7 |
102,237,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6389:Or52p2
|
UTSW |
7 |
102,237,679 (GRCm39) |
missense |
probably benign |
|
|
R6455:Or52p2
|
UTSW |
7 |
102,237,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7305:Or52p2
|
UTSW |
7 |
102,237,162 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7638:Or52p2
|
UTSW |
7 |
102,237,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7743:Or52p2
|
UTSW |
7 |
102,237,638 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7792:Or52p2
|
UTSW |
7 |
102,238,090 (GRCm39) |
start gained |
probably benign |
|
|
R8855:Or52p2
|
UTSW |
7 |
102,237,945 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Or52p2
|
UTSW |
7 |
102,237,929 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTCCTAACTTGCTCACAGAC -3'
(R):5'- TCGGCCTGATCATGCAACACAC -3'
Sequencing Primer
(F):5'- TAACTTGCTCACAGACTCTGAGG -3'
(R):5'- ATGCCCTAGCAGTTCTTGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation