Incidental Mutation 'IGL01914:Or5al1'
| ID |
179879 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5al1
|
| Ensembl Gene |
ENSMUSG00000075202 |
| Gene Name |
olfactory receptor family 5 subfamily AL member 1 |
| Synonyms |
Olfr1042, MOR185-10, GA_x6K02T2Q125-47629317-47628376 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01914
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
85989689-85990785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85990391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 108
(V108I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099907]
[ENSMUST00000099908]
[ENSMUST00000213886]
[ENSMUST00000213949]
[ENSMUST00000215624]
[ENSMUST00000216028]
|
| AlphaFold |
Q7TR81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099907
|
| SMART Domains |
Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.9e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099908
AA Change: V108I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: V108I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.2e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213886
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215624
AA Change: V108I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216028
|
| Coding Region Coverage |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
A |
T |
15: 102,459,913 (GRCm39) |
Y67* |
probably null |
Het |
| Atp6v1b2 |
C |
A |
8: 69,548,932 (GRCm39) |
|
probably benign |
Het |
| Cd24a |
T |
C |
10: 43,458,699 (GRCm39) |
S79P |
unknown |
Het |
| Col4a2 |
G |
A |
8: 11,464,754 (GRCm39) |
E340K |
possibly damaging |
Het |
| Dtna |
A |
T |
18: 23,730,516 (GRCm39) |
N301I |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,544,069 (GRCm39) |
D45G |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,078,920 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,987,053 (GRCm39) |
T1091A |
probably benign |
Het |
| Msto1 |
T |
C |
3: 88,820,210 (GRCm39) |
E82G |
probably benign |
Het |
| Mup11 |
T |
A |
4: 60,615,821 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,256,689 (GRCm39) |
N13K |
probably benign |
Het |
| Nsun7 |
C |
T |
5: 66,433,977 (GRCm39) |
P209L |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,294 (GRCm39) |
C96S |
probably damaging |
Het |
| Or8j3 |
G |
A |
2: 86,029,016 (GRCm39) |
L27F |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,590,693 (GRCm39) |
I27T |
possibly damaging |
Het |
| Prkcd |
T |
C |
14: 30,329,383 (GRCm39) |
E19G |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,529,199 (GRCm39) |
I417N |
probably damaging |
Het |
| Stat1 |
T |
C |
1: 52,165,716 (GRCm39) |
I104T |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,800,226 (GRCm39) |
N251D |
probably damaging |
Het |
| Ttll4 |
C |
T |
1: 74,718,217 (GRCm39) |
H23Y |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,571 (GRCm39) |
T651S |
probably benign |
Het |
|
| Other mutations in Or5al1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02071:Or5al1
|
APN |
2 |
85,990,219 (GRCm39) |
missense |
probably benign |
|
|
IGL02935:Or5al1
|
APN |
2 |
85,990,714 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03152:Or5al1
|
APN |
2 |
85,990,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0089:Or5al1
|
UTSW |
2 |
85,989,918 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1419:Or5al1
|
UTSW |
2 |
85,989,773 (GRCm39) |
makesense |
probably null |
|
|
R1699:Or5al1
|
UTSW |
2 |
85,990,280 (GRCm39) |
missense |
probably benign |
|
|
R1804:Or5al1
|
UTSW |
2 |
85,990,417 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3162:Or5al1
|
UTSW |
2 |
85,990,439 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3162:Or5al1
|
UTSW |
2 |
85,990,439 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3609:Or5al1
|
UTSW |
2 |
85,989,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3953:Or5al1
|
UTSW |
2 |
85,990,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3955:Or5al1
|
UTSW |
2 |
85,990,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3956:Or5al1
|
UTSW |
2 |
85,990,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3957:Or5al1
|
UTSW |
2 |
85,990,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4771:Or5al1
|
UTSW |
2 |
85,990,417 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5685:Or5al1
|
UTSW |
2 |
85,990,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6241:Or5al1
|
UTSW |
2 |
85,990,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Or5al1
|
UTSW |
2 |
85,989,800 (GRCm39) |
missense |
probably benign |
|
|
R6678:Or5al1
|
UTSW |
2 |
85,990,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6921:Or5al1
|
UTSW |
2 |
85,990,196 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7215:Or5al1
|
UTSW |
2 |
85,989,800 (GRCm39) |
missense |
probably benign |
|
|
R7386:Or5al1
|
UTSW |
2 |
85,989,874 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8030:Or5al1
|
UTSW |
2 |
85,990,586 (GRCm39) |
missense |
probably benign |
|
|
R9694:Or5al1
|
UTSW |
2 |
85,990,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation