Incidental Mutation 'IGL03219:Or52s6'
| ID |
413582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52s6
|
| Ensembl Gene |
ENSMUSG00000109659 |
| Gene Name |
olfactory receptor family 52 subfamily S member 6 |
| Synonyms |
MOR24-5, GA_x6K02T2PBJ9-6164792-6163848, MOR202-22P, Olfr605 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL03219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103091347-103092357 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103091745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 195
(G195E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080660]
[ENSMUST00000215417]
|
| AlphaFold |
E9Q838 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080660
AA Change: G195E
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079489
Gene: ENSMUSG00000109659
AA Change: G195E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
8.6e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
305 |
1.9e-9 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
6.1e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215417
AA Change: G195E
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
| Dynlrb2 |
A |
T |
8: 117,241,635 (GRCm39) |
I60F |
probably benign |
Het |
| E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,894,971 (GRCm39) |
V379E |
probably damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
| Obox3 |
G |
A |
7: 15,359,803 (GRCm39) |
L289F |
probably damaging |
Het |
| Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,787,680 (GRCm39) |
W891R |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
| Senp2 |
T |
A |
16: 21,833,014 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
G |
A |
3: 121,257,169 (GRCm39) |
T508I |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
| Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
probably damaging |
Het |
|
| Other mutations in Or52s6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02045:Or52s6
|
APN |
7 |
103,092,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Or52s6
|
APN |
7 |
103,091,655 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03404:Or52s6
|
APN |
7 |
103,092,195 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0294:Or52s6
|
UTSW |
7 |
103,092,291 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0465:Or52s6
|
UTSW |
7 |
103,092,042 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4698:Or52s6
|
UTSW |
7 |
103,091,842 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4758:Or52s6
|
UTSW |
7 |
103,092,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Or52s6
|
UTSW |
7 |
103,092,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5595:Or52s6
|
UTSW |
7 |
103,091,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Or52s6
|
UTSW |
7 |
103,092,204 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7202:Or52s6
|
UTSW |
7 |
103,092,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7291:Or52s6
|
UTSW |
7 |
103,091,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7636:Or52s6
|
UTSW |
7 |
103,092,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Or52s6
|
UTSW |
7 |
103,092,120 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9170:Or52s6
|
UTSW |
7 |
103,091,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Or52s6
|
UTSW |
7 |
103,092,165 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2016-08-02 |
Incidental Mutation