Incidental Mutation 'IGL03063:Or52s1'
| ID |
409532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52s1
|
| Ensembl Gene |
ENSMUSG00000073955 |
| Gene Name |
olfactory receptor family 52 subfamily S member 1 |
| Synonyms |
MOR24-2, Olfr593, GA_x6K02T2PBJ9-5927412-5928362 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102861069-102862052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102861841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 247
(V247D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098206]
[ENSMUST00000210686]
[ENSMUST00000214051]
|
| AlphaFold |
Q8VF28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098206
AA Change: V258D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: V258D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
44 |
323 |
4.9e-106 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
48 |
320 |
2.6e-8 |
PFAM |
|
Pfam:7tm_1
|
54 |
305 |
6.8e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210686
AA Change: V247D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214051
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or52s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Or52s1
|
APN |
7 |
102,861,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01636:Or52s1
|
APN |
7 |
102,861,384 (GRCm39) |
missense |
probably benign |
|
|
IGL01637:Or52s1
|
APN |
7 |
102,861,384 (GRCm39) |
missense |
probably benign |
|
|
IGL02115:Or52s1
|
APN |
7 |
102,861,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Or52s1
|
APN |
7 |
102,861,942 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03070:Or52s1
|
APN |
7 |
102,861,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03114:Or52s1
|
APN |
7 |
102,861,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Or52s1
|
UTSW |
7 |
102,861,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0238:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0239:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0239:Or52s1
|
UTSW |
7 |
102,861,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0309:Or52s1
|
UTSW |
7 |
102,861,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Or52s1
|
UTSW |
7 |
102,861,787 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0677:Or52s1
|
UTSW |
7 |
102,862,005 (GRCm39) |
nonsense |
probably null |
|
|
R0783:Or52s1
|
UTSW |
7 |
102,861,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Or52s1
|
UTSW |
7 |
102,861,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3840:Or52s1
|
UTSW |
7 |
102,861,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Or52s1
|
UTSW |
7 |
102,861,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4449:Or52s1
|
UTSW |
7 |
102,861,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4898:Or52s1
|
UTSW |
7 |
102,861,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Or52s1
|
UTSW |
7 |
102,861,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5285:Or52s1
|
UTSW |
7 |
102,862,005 (GRCm39) |
nonsense |
probably null |
|
|
R6548:Or52s1
|
UTSW |
7 |
102,861,111 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7353:Or52s1
|
UTSW |
7 |
102,861,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Or52s1
|
UTSW |
7 |
102,861,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Or52s1
|
UTSW |
7 |
102,861,652 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7799:Or52s1
|
UTSW |
7 |
102,861,186 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8405:Or52s1
|
UTSW |
7 |
102,861,408 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8835:Or52s1
|
UTSW |
7 |
102,861,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Or52s1
|
UTSW |
7 |
102,861,156 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9429:Or52s1
|
UTSW |
7 |
102,861,871 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0067:Or52s1
|
UTSW |
7 |
102,861,255 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2016-08-02 |
Incidental Mutation