Incidental Mutation 'IGL03309:Or52ac1'
| ID |
416497 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52ac1
|
| Ensembl Gene |
ENSMUSG00000051182 |
| Gene Name |
olfactory receptor family 52 subfamily AC member 1 |
| Synonyms |
GA_x6K02T2PBJ9-7224628-7223702, Olfr655, MOR38-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL03309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104245460-104246386 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104246248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 47
(F47L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057385]
[ENSMUST00000215538]
[ENSMUST00000216750]
|
| AlphaFold |
E9Q252 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057385
AA Change: F47L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054108
Gene: ENSMUSG00000051182
AA Change: F47L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
9.4e-95 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
5e-10 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215538
AA Change: F47L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216750
AA Change: F47L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,303 (GRCm39) |
T334A |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
| Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
| Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,902 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
| Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
| Hypk |
T |
A |
2: 121,288,673 (GRCm39) |
L113* |
probably null |
Het |
| Hypk |
G |
T |
2: 121,288,674 (GRCm39) |
L113F |
probably damaging |
Het |
| Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
| Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,178 (GRCm39) |
T249S |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
| Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
| Rngtt |
C |
A |
4: 33,339,091 (GRCm39) |
R299S |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,998 (GRCm39) |
K398E |
possibly damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
| Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or52ac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Or52ac1
|
APN |
7 |
104,245,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Or52ac1
|
UTSW |
7 |
104,245,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1966:Or52ac1
|
UTSW |
7 |
104,246,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Or52ac1
|
UTSW |
7 |
104,245,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4566:Or52ac1
|
UTSW |
7 |
104,245,823 (GRCm39) |
nonsense |
probably null |
|
|
R5445:Or52ac1
|
UTSW |
7 |
104,246,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Or52ac1
|
UTSW |
7 |
104,245,932 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5838:Or52ac1
|
UTSW |
7 |
104,246,104 (GRCm39) |
missense |
probably benign |
|
|
R6015:Or52ac1
|
UTSW |
7 |
104,245,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Or52ac1
|
UTSW |
7 |
104,245,796 (GRCm39) |
nonsense |
probably null |
|
|
R6996:Or52ac1
|
UTSW |
7 |
104,246,018 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7250:Or52ac1
|
UTSW |
7 |
104,245,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Or52ac1
|
UTSW |
7 |
104,246,284 (GRCm39) |
missense |
probably benign |
|
|
R8195:Or52ac1
|
UTSW |
7 |
104,246,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Or52ac1
|
UTSW |
7 |
104,245,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Or52ac1
|
UTSW |
7 |
104,246,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation