Incidental Mutation 'R6350:Or2p2'
ID |
514165 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2p2
|
Ensembl Gene |
ENSMUSG00000042869 |
Gene Name |
olfactory receptor family 2 subfamily P member 2 |
Synonyms |
Olfr1370, MOR256-14, GA_x6K02T2QHY8-12181473-12182423 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6350 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
21256519-21257469 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21256775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 232
(E232G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058168]
[ENSMUST00000215357]
[ENSMUST00000215806]
|
AlphaFold |
Q8VFG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058168
AA Change: E232G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054533 Gene: ENSMUSG00000042869 AA Change: E232G
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srv
|
24 |
305 |
1.8e-8 |
PFAM |
Pfam:7tm_4
|
31 |
308 |
3.6e-54 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
306 |
1.9e-6 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
2e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213848
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215357
AA Change: E232G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215806
AA Change: E232G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
Other mutations in Or2p2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01655:Or2p2
|
APN |
13 |
21,257,075 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02658:Or2p2
|
APN |
13 |
21,256,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R0281:Or2p2
|
UTSW |
13 |
21,256,544 (GRCm39) |
missense |
probably benign |
|
R1838:Or2p2
|
UTSW |
13 |
21,256,595 (GRCm39) |
nonsense |
probably null |
|
R1858:Or2p2
|
UTSW |
13 |
21,256,641 (GRCm39) |
missense |
probably damaging |
0.98 |
R2181:Or2p2
|
UTSW |
13 |
21,257,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R4502:Or2p2
|
UTSW |
13 |
21,256,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R4594:Or2p2
|
UTSW |
13 |
21,256,692 (GRCm39) |
missense |
probably benign |
0.30 |
R4757:Or2p2
|
UTSW |
13 |
21,256,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R5222:Or2p2
|
UTSW |
13 |
21,256,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R6245:Or2p2
|
UTSW |
13 |
21,256,860 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6360:Or2p2
|
UTSW |
13 |
21,256,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R8539:Or2p2
|
UTSW |
13 |
21,257,343 (GRCm39) |
missense |
probably benign |
0.00 |
R8812:Or2p2
|
UTSW |
13 |
21,257,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R9074:Or2p2
|
UTSW |
13 |
21,256,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCCCTTGTGATACAATGAGAC -3'
(R):5'- CAACTTTCTCTGCGAGGTCC -3'
Sequencing Primer
(F):5'- GACAAGAAGTCTCTTCATTGCTC -3'
(R):5'- TCCCGGTGATGATCAAGATGTCC -3'
|
Posted On |
2018-04-27 |