Incidental Mutation 'IGL01773:Or52d13'
| ID |
153736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52d13
|
| Ensembl Gene |
ENSMUSG00000081945 |
| Gene Name |
olfactory receptor family 52 subfamily D member 13 |
| Synonyms |
MOR33-3P, EG546989, Gm15121, Olfr607, GA_x6K02T2PBJ9-6182881-6181898 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
IGL01773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103109430-103113333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 103110221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 60
(M60L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119283]
[ENSMUST00000214347]
|
| AlphaFold |
A0A2I3BR67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045546
AA Change: M60L
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041119
Gene: ENSMUSG00000042402
AA Change: M60L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
32 |
305 |
9.9e-102 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
304 |
3.7e-8 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
5e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119283
AA Change: M60L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214347
AA Change: M65L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
| Calcrl |
A |
G |
2: 84,200,787 (GRCm39) |
Y86H |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,251,208 (GRCm39) |
K401E |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
| Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
| Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
| Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,451,504 (GRCm39) |
L219P |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,461 (GRCm39) |
L287Q |
probably damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,494 (GRCm39) |
K290R |
probably benign |
Het |
| Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
| Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,852,157 (GRCm39) |
E761V |
probably damaging |
Het |
| Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
| Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
| Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
| Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
Het |
|
| Other mutations in Or52d13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0919:Or52d13
|
UTSW |
7 |
103,110,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Or52d13
|
UTSW |
7 |
103,109,480 (GRCm39) |
splice site |
probably null |
|
|
R2332:Or52d13
|
UTSW |
7 |
103,110,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Or52d13
|
UTSW |
7 |
103,109,695 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4859:Or52d13
|
UTSW |
7 |
103,110,243 (GRCm39) |
nonsense |
probably null |
|
|
R5260:Or52d13
|
UTSW |
7 |
103,109,822 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5277:Or52d13
|
UTSW |
7 |
103,110,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5572:Or52d13
|
UTSW |
7 |
103,109,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5593:Or52d13
|
UTSW |
7 |
103,109,592 (GRCm39) |
synonymous |
silent |
|
|
R5788:Or52d13
|
UTSW |
7 |
103,110,086 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9083:Or52d13
|
UTSW |
7 |
103,109,896 (GRCm39) |
missense |
|
|
|
Z1177:Or52d13
|
UTSW |
7 |
103,109,673 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation