Incidental Mutation 'R0829:Or1s2'
| ID |
78449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1s2
|
| Ensembl Gene |
ENSMUSG00000048356 |
| Gene Name |
olfactory receptor family 1 subfamily S member 1 |
| Synonyms |
GA_x6K02T2RE5P-4112771-4113718, MOR127-1, Olfr1496 |
| MMRRC Submission |
039009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R0829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13757912-13758978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13758556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 191
(D191E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057390]
[ENSMUST00000209137]
[ENSMUST00000219412]
|
| AlphaFold |
B9EHG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057390
AA Change: D191E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054924
Gene: ENSMUSG00000048356
AA Change: D191E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
310 |
1.7e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
307 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
3.6e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209137
AA Change: D191E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219412
AA Change: D193E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1957 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
95% (37/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
| Atp4b |
T |
G |
8: 13,440,098 (GRCm39) |
T83P |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
| Cercam |
G |
T |
2: 29,761,079 (GRCm39) |
R126L |
probably damaging |
Het |
| Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
| Dnajb6 |
T |
C |
5: 29,990,020 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
| Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,376,254 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
| Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
| Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
| Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
| Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
| Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
| Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,469 (GRCm39) |
A35T |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
| Other mutations in Or1s2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Or1s2
|
APN |
19 |
13,758,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01577:Or1s2
|
APN |
19 |
13,758,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02080:Or1s2
|
APN |
19 |
13,758,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Or1s2
|
APN |
19 |
13,758,343 (GRCm39) |
nonsense |
probably null |
|
|
R3945:Or1s2
|
UTSW |
19 |
13,758,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4395:Or1s2
|
UTSW |
19 |
13,758,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4791:Or1s2
|
UTSW |
19 |
13,758,706 (GRCm39) |
nonsense |
probably null |
|
|
R7299:Or1s2
|
UTSW |
19 |
13,758,688 (GRCm39) |
nonsense |
probably null |
|
|
R7762:Or1s2
|
UTSW |
19 |
13,758,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Or1s2
|
UTSW |
19 |
13,758,810 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8496:Or1s2
|
UTSW |
19 |
13,758,384 (GRCm39) |
missense |
probably benign |
|
|
R8814:Or1s2
|
UTSW |
19 |
13,758,897 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8838:Or1s2
|
UTSW |
19 |
13,758,381 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9091:Or1s2
|
UTSW |
19 |
13,758,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9270:Or1s2
|
UTSW |
19 |
13,758,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9555:Or1s2
|
UTSW |
19 |
13,758,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Or1s2
|
UTSW |
19 |
13,758,639 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1177:Or1s2
|
UTSW |
19 |
13,758,888 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCATGCACCCCAGGTTCTGTC -3'
(R):5'- CACCACTGTGAAGAGTACTGCACC -3'
Sequencing Primer
(F):5'- ACCCCAGGTTCTGTCTTTTAC -3'
(R):5'- GAAGAGTACTGCACCAATCTTGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation