Incidental Mutation 'IGL02695:Or52p1'
| ID |
303873 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52p1
|
| Ensembl Gene |
ENSMUSG00000073924 |
| Gene Name |
olfactory receptor family 52 subfamily P member 1 |
| Synonyms |
MOR27-1, Olfr656, GA_x6K02T2PBJ9-7245486-7246451 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL02695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104266864-104267853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104267678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 264
(H264R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098172]
[ENSMUST00000215575]
|
| AlphaFold |
Q8VGX9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098172
AA Change: H272R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095774
Gene: ENSMUSG00000073924
AA Change: H272R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
41 |
319 |
5.2e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
42 |
316 |
1.1e-8 |
PFAM |
|
Pfam:7tm_1
|
51 |
302 |
4.9e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210687
AA Change: H264R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215575
AA Change: H264R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,287,929 (GRCm39) |
M389K |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,080,203 (GRCm39) |
T252K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,912,625 (GRCm39) |
G1293D |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,645 (GRCm39) |
E1013G |
probably damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,576,120 (GRCm39) |
H451N |
possibly damaging |
Het |
| Cd300c2 |
C |
T |
11: 114,892,379 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,919,946 (GRCm39) |
Q637P |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,037 (GRCm39) |
I265F |
probably damaging |
Het |
| Dot1l |
C |
A |
10: 80,613,442 (GRCm39) |
T18K |
probably damaging |
Het |
| Fam83c |
T |
C |
2: 155,673,435 (GRCm39) |
D251G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,402 (GRCm39) |
K325R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,468 (GRCm39) |
I615F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,344,549 (GRCm39) |
N494S |
probably benign |
Het |
| Gnaz |
T |
C |
10: 74,827,974 (GRCm39) |
|
probably null |
Het |
| Haus5 |
A |
T |
7: 30,362,702 (GRCm39) |
L36Q |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,965,368 (GRCm39) |
G486D |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,298,985 (GRCm39) |
F2777S |
possibly damaging |
Het |
| Il1rl1 |
T |
C |
1: 40,485,718 (GRCm39) |
S290P |
possibly damaging |
Het |
| Itgam |
G |
T |
7: 127,685,113 (GRCm39) |
A409S |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,532,223 (GRCm39) |
M467K |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,876,771 (GRCm39) |
V2725G |
probably benign |
Het |
| Lhpp |
G |
A |
7: 132,252,063 (GRCm39) |
R234Q |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,236,955 (GRCm39) |
S65P |
possibly damaging |
Het |
| Mgat5 |
T |
A |
1: 127,339,868 (GRCm39) |
H416Q |
probably damaging |
Het |
| Mta2 |
A |
G |
19: 8,925,728 (GRCm39) |
T408A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,145,603 (GRCm39) |
I2974F |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,101,608 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
C |
T |
2: 36,677,332 (GRCm39) |
S265L |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,870 (GRCm39) |
S113P |
possibly damaging |
Het |
| Or5w22 |
C |
T |
2: 87,362,461 (GRCm39) |
T28I |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,820,150 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,451 (GRCm39) |
F309L |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,817,739 (GRCm39) |
Y536F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,933,486 (GRCm39) |
V433A |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,881,228 (GRCm39) |
N601Y |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,873,372 (GRCm39) |
V332F |
probably damaging |
Het |
| Stk11 |
A |
G |
10: 79,961,311 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
A |
G |
4: 107,050,511 (GRCm39) |
N147S |
probably benign |
Het |
|
| Other mutations in Or52p1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01616:Or52p1
|
APN |
7 |
104,266,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01908:Or52p1
|
APN |
7 |
104,266,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03055:Or52p1
|
UTSW |
7 |
104,267,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Or52p1
|
UTSW |
7 |
104,267,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Or52p1
|
UTSW |
7 |
104,267,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Or52p1
|
UTSW |
7 |
104,267,631 (GRCm39) |
nonsense |
probably null |
|
|
R4675:Or52p1
|
UTSW |
7 |
104,267,631 (GRCm39) |
nonsense |
probably null |
|
|
R4723:Or52p1
|
UTSW |
7 |
104,267,696 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4979:Or52p1
|
UTSW |
7 |
104,267,812 (GRCm39) |
missense |
probably null |
0.03 |
|
R6273:Or52p1
|
UTSW |
7 |
104,267,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Or52p1
|
UTSW |
7 |
104,267,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6582:Or52p1
|
UTSW |
7 |
104,267,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Or52p1
|
UTSW |
7 |
104,267,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Or52p1
|
UTSW |
7 |
104,267,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7786:Or52p1
|
UTSW |
7 |
104,266,925 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8068:Or52p1
|
UTSW |
7 |
104,267,460 (GRCm39) |
nonsense |
probably null |
|
|
R8324:Or52p1
|
UTSW |
7 |
104,267,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8486:Or52p1
|
UTSW |
7 |
104,267,069 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8828:Or52p1
|
UTSW |
7 |
104,267,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Or52p1
|
UTSW |
7 |
104,266,873 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8971:Or52p1
|
UTSW |
7 |
104,267,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Or52p1
|
UTSW |
7 |
104,267,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Or52p1
|
UTSW |
7 |
104,266,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation