Incidental Mutation 'IGL00236:Or51s1'
| ID |
2337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51s1
|
| Ensembl Gene |
ENSMUSG00000043310 |
| Gene Name |
olfactory receptor family 51 subfamily S member 1 |
| Synonyms |
Olfr571, MOR21-1, GA_x6K02T2PBJ9-5620890-5619922 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
IGL00236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102905090-102917536 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102909272 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 189
(H189R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061738]
[ENSMUST00000214160]
[ENSMUST00000215773]
|
| AlphaFold |
E9Q407 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061738
AA Change: H189R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: H189R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
318 |
8.9e-91 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
43 |
177 |
3.1e-8 |
PFAM |
|
Pfam:7tm_1
|
49 |
299 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214160
AA Change: H189R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215773
AA Change: H189R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh1 |
A |
G |
12: 87,443,697 (GRCm38) |
V43A |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,233,928 (GRCm38) |
S2460T |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 127,028,281 (GRCm38) |
L176P |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,843,071 (GRCm38) |
I952T |
probably damaging |
Het |
| Cdkl4 |
A |
T |
17: 80,525,276 (GRCm38) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,407,404 (GRCm38) |
L156P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,668,468 (GRCm38) |
L90S |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,462,453 (GRCm38) |
D276G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,641,418 (GRCm38) |
D1481G |
unknown |
Het |
| Fam83b |
T |
C |
9: 76,490,978 (GRCm38) |
I948V |
probably benign |
Het |
| Fbxl5 |
G |
T |
5: 43,765,336 (GRCm38) |
H247N |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,652,873 (GRCm38) |
I37T |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,705,852 (GRCm38) |
|
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,880,150 (GRCm38) |
L29Q |
possibly damaging |
Het |
| Inpp5e |
G |
T |
2: 26,408,521 (GRCm38) |
Q23K |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,967,063 (GRCm38) |
S619P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,283,818 (GRCm38) |
I253T |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,791,438 (GRCm38) |
V99M |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,633,539 (GRCm38) |
I143F |
probably benign |
Het |
| Pard6a |
T |
C |
8: 105,702,814 (GRCm38) |
S135P |
probably damaging |
Het |
| Prss43 |
G |
T |
9: 110,829,470 (GRCm38) |
Q279H |
probably benign |
Het |
| Ptcd2 |
T |
C |
13: 99,330,065 (GRCm38) |
N207D |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,194,890 (GRCm38) |
I23V |
probably benign |
Het |
| Scg5 |
A |
G |
2: 113,827,570 (GRCm38) |
|
probably benign |
Het |
| Sh3bp5 |
T |
A |
14: 31,379,390 (GRCm38) |
K212* |
probably null |
Het |
| Slc25a30 |
C |
T |
14: 75,766,925 (GRCm38) |
G244D |
possibly damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,106,602 (GRCm38) |
R689G |
probably damaging |
Het |
| Spatc1 |
A |
G |
15: 76,284,794 (GRCm38) |
D321G |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,102,878 (GRCm38) |
Y628F |
probably damaging |
Het |
| Wdr35 |
G |
A |
12: 9,019,900 (GRCm38) |
V813I |
probably benign |
Het |
|
| Other mutations in Or51s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Or51s1
|
APN |
7 |
102,909,719 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01962:Or51s1
|
APN |
7 |
102,909,847 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02110:Or51s1
|
APN |
7 |
102,909,195 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0306:Or51s1
|
UTSW |
7 |
102,909,803 (GRCm38) |
missense |
probably benign |
|
|
R0790:Or51s1
|
UTSW |
7 |
102,909,636 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3791:Or51s1
|
UTSW |
7 |
102,909,032 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6461:Or51s1
|
UTSW |
7 |
102,909,028 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6793:Or51s1
|
UTSW |
7 |
102,909,728 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8327:Or51s1
|
UTSW |
7 |
102,909,719 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8860:Or51s1
|
UTSW |
7 |
102,909,129 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9532:Or51s1
|
UTSW |
7 |
102,909,539 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Posted On |
2011-12-09 |
Incidental Mutation