Incidental Mutation 'R1376:Or10ag58'
| ID |
186244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10ag58
|
| Ensembl Gene |
ENSMUSG00000050772 |
| Gene Name |
olfactory receptor family 10 subfamily AG member 58 |
| Synonyms |
GA_x6K02T2Q125-48936945-48937901, Olfr1124, GA_x6K02T2Q125-48935224-48935664, Olfr1125, MOR264-24, MOR264-3 |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87264833-87265789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87264903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 24
(S24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062494]
[ENSMUST00000215909]
|
| AlphaFold |
A2AT86 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062494
AA Change: S24L
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062513
Gene: ENSMUSG00000050772
AA Change: S24L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
4.2e-52 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
2.4e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215909
AA Change: S24L
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 89.2%
|
| Validation Efficiency |
100% (29/29) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,164 (GRCm39) |
|
probably benign |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Gm11787 |
A |
G |
4: 3,516,373 (GRCm39) |
|
noncoding transcript |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sec24a |
A |
C |
11: 51,591,740 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or10ag58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Or10ag58
|
APN |
2 |
87,265,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01655:Or10ag58
|
APN |
2 |
87,265,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01878:Or10ag58
|
APN |
2 |
87,265,314 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02265:Or10ag58
|
APN |
2 |
87,265,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02379:Or10ag58
|
APN |
2 |
87,265,668 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02512:Or10ag58
|
APN |
2 |
87,265,402 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02578:Or10ag58
|
APN |
2 |
87,265,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0617:Or10ag58
|
UTSW |
2 |
87,265,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1376:Or10ag58
|
UTSW |
2 |
87,264,903 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4993:Or10ag58
|
UTSW |
2 |
87,265,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5045:Or10ag58
|
UTSW |
2 |
87,265,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Or10ag58
|
UTSW |
2 |
87,265,733 (GRCm39) |
nonsense |
probably null |
|
|
R6146:Or10ag58
|
UTSW |
2 |
87,265,662 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6699:Or10ag58
|
UTSW |
2 |
87,265,160 (GRCm39) |
missense |
probably benign |
|
|
R6883:Or10ag58
|
UTSW |
2 |
87,265,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6966:Or10ag58
|
UTSW |
2 |
87,265,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7383:Or10ag58
|
UTSW |
2 |
87,265,721 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8069:Or10ag58
|
UTSW |
2 |
87,265,364 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9294:Or10ag58
|
UTSW |
2 |
87,265,010 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9325:Or10ag58
|
UTSW |
2 |
87,265,290 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1088:Or10ag58
|
UTSW |
2 |
87,265,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTCTGCTGTCTGGAACATAGTT -3'
(R):5'- GCTCCCAGGATAAGAATGCAGCAC -3'
Sequencing Primer
(F):5'- CTGGAACATAGTTCAGAGTATACCC -3'
(R):5'- CACATTTGTGTAGCACAGGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation