Incidental Mutation 'R0990:Or5aq1'
| ID |
97592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5aq1
|
| Ensembl Gene |
ENSMUSG00000075159 |
| Gene Name |
olfactory receptor family 5 subfamily AQ member 1 |
| Synonyms |
MOR172-4, Olfr1110, GA_x6K02T2Q125-48621299-48620361 |
| MMRRC Submission |
039110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0990 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
86965725-86970577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86966086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 193
(H193L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099861]
[ENSMUST00000152758]
|
| AlphaFold |
Q8VG38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099861
AA Change: H193L
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097447
Gene: ENSMUSG00000075159
AA Change: H193L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.1e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152758
AA Change: H193L
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.0%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,052,080 (GRCm39) |
V916A |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,728,315 (GRCm39) |
I759M |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,166,677 (GRCm39) |
D438G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,883,677 (GRCm39) |
Y1285C |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,960,678 (GRCm39) |
V764A |
possibly damaging |
Het |
| Cog8 |
T |
A |
8: 107,779,119 (GRCm39) |
|
probably null |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo24 |
T |
C |
5: 137,616,701 (GRCm39) |
N394S |
probably damaging |
Het |
| Gm9938 |
A |
G |
19: 23,701,956 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,050,824 (GRCm39) |
F422L |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,940,870 (GRCm39) |
C87S |
probably damaging |
Het |
| Mettl2 |
T |
A |
11: 105,028,570 (GRCm39) |
Y307* |
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,539 (GRCm39) |
D549G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,752,722 (GRCm38) |
T867A |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,119,232 (GRCm39) |
T1852S |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,485,577 (GRCm39) |
S371T |
probably benign |
Het |
| Pkm |
A |
G |
9: 59,585,379 (GRCm39) |
T454A |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,889,343 (GRCm39) |
S340F |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,819,268 (GRCm39) |
V354I |
possibly damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,576 (GRCm39) |
T440A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,872,985 (GRCm39) |
F230S |
probably damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,379,450 (GRCm39) |
I439N |
probably damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,078 (GRCm39) |
R615Q |
probably damaging |
Het |
| Smad1 |
T |
A |
8: 80,070,417 (GRCm39) |
I374F |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,875,576 (GRCm39) |
E143G |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,429 (GRCm39) |
S797P |
probably benign |
Het |
|
| Other mutations in Or5aq1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01447:Or5aq1
|
APN |
2 |
86,966,343 (GRCm39) |
nonsense |
probably null |
|
|
IGL01723:Or5aq1
|
APN |
2 |
86,965,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01887:Or5aq1
|
APN |
2 |
86,965,885 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01903:Or5aq1
|
APN |
2 |
86,965,723 (GRCm39) |
splice site |
probably null |
|
|
IGL02214:Or5aq1
|
APN |
2 |
86,965,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Or5aq1
|
UTSW |
2 |
86,966,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:Or5aq1
|
UTSW |
2 |
86,966,590 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3770:Or5aq1
|
UTSW |
2 |
86,966,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4459:Or5aq1
|
UTSW |
2 |
86,966,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4461:Or5aq1
|
UTSW |
2 |
86,966,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4780:Or5aq1
|
UTSW |
2 |
86,966,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5105:Or5aq1
|
UTSW |
2 |
86,966,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5995:Or5aq1
|
UTSW |
2 |
86,966,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Or5aq1
|
UTSW |
2 |
86,966,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9326:Or5aq1
|
UTSW |
2 |
86,966,647 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9745:Or5aq1
|
UTSW |
2 |
86,965,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or5aq1
|
UTSW |
2 |
86,966,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCTTGTTCCTCAGGCTGTAAATC -3'
(R):5'- CAACATCTGCACTCAAATGGTTCTTGC -3'
Sequencing Primer
(F):5'- CCTCAGGCTGTAAATCAGAGGG -3'
(R):5'- GCAAGTTACTTGGGGGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation