Incidental Mutation 'R4635:Or51aa2'
| ID |
349442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51aa2
|
| Ensembl Gene |
ENSMUSG00000094119 |
| Gene Name |
olfactory receptor family 51 subfamily AA member 2 |
| Synonyms |
MOR15-3, EG545985, Olfr612, GA_x6K02T2PBJ9-6251685-6250741 |
| MMRRC Submission |
041899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R4635 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103187468-103188439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103188355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 29
(I29V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104879]
[ENSMUST00000214269]
[ENSMUST00000215663]
|
| AlphaFold |
L7N462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104879
AA Change: I29V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100473
Gene: ENSMUSG00000094119
AA Change: I29V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
1.3e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
4.7e-11 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214269
AA Change: I29V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215663
AA Change: I29V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.1202 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (39/40) |
| 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, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,764,927 (GRCm39) |
K639I |
probably benign |
Het |
| Amer3 |
C |
A |
1: 34,626,958 (GRCm39) |
T399K |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,510,603 (GRCm39) |
Y786C |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,861 (GRCm39) |
Y315C |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Chchd6 |
T |
C |
6: 89,444,448 (GRCm39) |
E178G |
probably damaging |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
T |
A |
12: 72,005,518 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,490,101 (GRCm39) |
E1690G |
probably benign |
Het |
| Eme2 |
G |
T |
17: 25,113,882 (GRCm39) |
P48T |
probably benign |
Het |
| Ferd3l |
T |
C |
12: 33,978,835 (GRCm39) |
M116T |
probably damaging |
Het |
| Gm13141 |
GGTTTCTTGATGCCA |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2i |
T |
C |
5: 134,274,028 (GRCm39) |
N727D |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,365,072 (GRCm39) |
N185I |
probably damaging |
Het |
| Kifap3 |
C |
T |
1: 163,642,004 (GRCm39) |
T195I |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,606,348 (GRCm39) |
F363S |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,890,175 (GRCm39) |
I135T |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,167,432 (GRCm39) |
F787L |
probably benign |
Het |
| Nr1h2 |
A |
C |
7: 44,201,961 (GRCm39) |
S42A |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,442,333 (GRCm39) |
Q164* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,043 (GRCm39) |
M217K |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,245,208 (GRCm39) |
N5I |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,099,854 (GRCm39) |
V123A |
probably damaging |
Het |
| Scd1 |
T |
C |
19: 44,395,024 (GRCm39) |
Y67C |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,358,051 (GRCm39) |
N730S |
possibly damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,120 (GRCm39) |
C341Y |
probably benign |
Het |
| Tfdp2 |
T |
A |
9: 96,179,727 (GRCm39) |
N113K |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,234,290 (GRCm39) |
|
probably benign |
Het |
| Top6bl |
A |
G |
19: 4,748,524 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,990,501 (GRCm39) |
|
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,683 (GRCm39) |
K1319E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,881,641 (GRCm39) |
V135I |
probably benign |
Het |
| Vwa5b1 |
T |
G |
4: 138,338,150 (GRCm39) |
S71R |
possibly damaging |
Het |
|
| Other mutations in Or51aa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01808:Or51aa2
|
APN |
7 |
103,187,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01901:Or51aa2
|
APN |
7 |
103,188,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1200:Or51aa2
|
UTSW |
7 |
103,188,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1591:Or51aa2
|
UTSW |
7 |
103,188,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1858:Or51aa2
|
UTSW |
7 |
103,187,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Or51aa2
|
UTSW |
7 |
103,188,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Or51aa2
|
UTSW |
7 |
103,187,566 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3690:Or51aa2
|
UTSW |
7 |
103,188,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4670:Or51aa2
|
UTSW |
7 |
103,188,393 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5267:Or51aa2
|
UTSW |
7 |
103,188,031 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5417:Or51aa2
|
UTSW |
7 |
103,187,970 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6644:Or51aa2
|
UTSW |
7 |
103,188,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7253:Or51aa2
|
UTSW |
7 |
103,187,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7278:Or51aa2
|
UTSW |
7 |
103,187,935 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7525:Or51aa2
|
UTSW |
7 |
103,188,338 (GRCm39) |
nonsense |
probably null |
|
|
R7553:Or51aa2
|
UTSW |
7 |
103,188,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7661:Or51aa2
|
UTSW |
7 |
103,187,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8379:Or51aa2
|
UTSW |
7 |
103,188,183 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8493:Or51aa2
|
UTSW |
7 |
103,187,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8774:Or51aa2
|
UTSW |
7 |
103,187,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8774-TAIL:Or51aa2
|
UTSW |
7 |
103,187,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGTGAAACAAGCAGTGG -3'
(R):5'- CAAAGGAATGTGCATTCAAGGTAC -3'
Sequencing Primer
(F):5'- AAGCAGTGGTGGTCAACTCTCTATC -3'
(R):5'- CAAAGATTATAGAGACAGTGCTCTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation