Incidental Mutation 'R0771:Or5ap2'
| ID |
76943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ap2
|
| Ensembl Gene |
ENSMUSG00000046975 |
| Gene Name |
olfactory receptor family 5 subfamily AP member 2 |
| Synonyms |
Olfr1020, MOR201-2, GA_x6K02T2Q125-47327964-47328917 |
| MMRRC Submission |
038951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R0771 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85679764-85680842 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85680338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 181
(I181F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055840]
[ENSMUST00000213515]
[ENSMUST00000215347]
|
| AlphaFold |
Q8VFK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055840
AA Change: I181F
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: I181F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
315 |
5.6e-55 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
1.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213515
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215347
AA Change: I181F
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,346,509 (GRCm39) |
E434G |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,012,280 (GRCm39) |
V259I |
possibly damaging |
Het |
| Adam5 |
A |
G |
8: 25,276,315 (GRCm39) |
S451P |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,861,500 (GRCm39) |
L516F |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,168 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gadl1 |
G |
A |
9: 115,773,300 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,751,843 (GRCm39) |
N936S |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,441 (GRCm39) |
S48R |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,822 (GRCm39) |
D151G |
probably damaging |
Het |
| Lim2 |
C |
A |
7: 43,080,127 (GRCm39) |
A38E |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,338,334 (GRCm39) |
D1177E |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,507,550 (GRCm39) |
V300I |
probably benign |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,778,264 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,376,779 (GRCm39) |
C122* |
probably null |
Het |
| Nod1 |
T |
G |
6: 54,921,254 (GRCm39) |
S355R |
probably damaging |
Het |
| Or52x1 |
T |
A |
7: 104,853,368 (GRCm39) |
M61L |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,281 (GRCm39) |
E702V |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,655,339 (GRCm39) |
T543A |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,615,249 (GRCm39) |
I190V |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,506 (GRCm39) |
Q132L |
probably benign |
Het |
| Slc1a4 |
C |
T |
11: 20,256,467 (GRCm39) |
V455M |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,437,682 (GRCm39) |
E220D |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,327,576 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp61 |
T |
C |
7: 23,992,779 (GRCm39) |
R71G |
probably benign |
Het |
|
| Other mutations in Or5ap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Or5ap2
|
APN |
2 |
85,680,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:Or5ap2
|
UTSW |
2 |
85,680,311 (GRCm39) |
nonsense |
probably null |
|
|
R2001:Or5ap2
|
UTSW |
2 |
85,680,744 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2002:Or5ap2
|
UTSW |
2 |
85,680,744 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4865:Or5ap2
|
UTSW |
2 |
85,680,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Or5ap2
|
UTSW |
2 |
85,680,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6717:Or5ap2
|
UTSW |
2 |
85,680,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Or5ap2
|
UTSW |
2 |
85,680,254 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8068:Or5ap2
|
UTSW |
2 |
85,680,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Or5ap2
|
UTSW |
2 |
85,680,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Or5ap2
|
UTSW |
2 |
85,680,246 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8927:Or5ap2
|
UTSW |
2 |
85,679,918 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8928:Or5ap2
|
UTSW |
2 |
85,679,918 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATGGCCTATGACCGCTATGC -3'
(R):5'- ACACAGAGACAACTTTGTCCTGTTCC -3'
Sequencing Primer
(F):5'- GCTATGCAGCCATCTGGAATC -3'
(R):5'- CCTGTTCCATAGAGTAGCTAGAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation