Incidental Mutation 'R2330:Or2t45'
ID |
245846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2t45
|
Ensembl Gene |
ENSMUSG00000056959 |
Gene Name |
olfactory receptor family 2 subfamily T member 45 |
Synonyms |
GA_x6K02T2NKPP-630272-629343, MOR278-1, Olfr315 |
MMRRC Submission |
040321-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R2330 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58668915-58669912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58669825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 291
(S291C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081533]
[ENSMUST00000203256]
[ENSMUST00000205189]
|
AlphaFold |
Q8VFG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081533
AA Change: S291C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080248 Gene: ENSMUSG00000056959 AA Change: S291C
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
308 |
3.5e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
34 |
252 |
1.3e-7 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
6.1e-24 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203256
AA Change: S291C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144944 Gene: ENSMUSG00000056959 AA Change: S291C
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
126 |
1.2e-13 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
126 |
1.8e-5 |
PFAM |
Pfam:7tm_1
|
41 |
126 |
4.4e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205189
|
SMART Domains |
Protein: ENSMUSP00000145387 Gene: ENSMUSG00000059504
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
26 |
259 |
8.9e-42 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
33 |
246 |
9.4e-6 |
PFAM |
Pfam:7tm_1
|
39 |
259 |
1.1e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (31/31) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
Het |
|
Other mutations in Or2t45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01526:Or2t45
|
APN |
11 |
58,669,123 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03265:Or2t45
|
APN |
11 |
58,669,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Or2t45
|
UTSW |
11 |
58,669,195 (GRCm39) |
missense |
probably benign |
0.05 |
R1760:Or2t45
|
UTSW |
11 |
58,669,195 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1782:Or2t45
|
UTSW |
11 |
58,669,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Or2t45
|
UTSW |
11 |
58,669,571 (GRCm39) |
splice site |
probably null |
|
R4898:Or2t45
|
UTSW |
11 |
58,669,132 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5227:Or2t45
|
UTSW |
11 |
58,669,705 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6257:Or2t45
|
UTSW |
11 |
58,669,829 (GRCm39) |
missense |
probably damaging |
0.96 |
R7253:Or2t45
|
UTSW |
11 |
58,669,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R8751:Or2t45
|
UTSW |
11 |
58,669,213 (GRCm39) |
missense |
probably benign |
0.00 |
R9803:Or2t45
|
UTSW |
11 |
58,669,595 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTACATCTGCTGCATTCTGATG -3'
(R):5'- GGCAAATTGATTTTCCAAACGC -3'
Sequencing Primer
(F):5'- GATGCTCCTGATCCCGCTG -3'
(R):5'- TAGAAAATGTCAAAGGAGCATCAAAG -3'
|
Posted On |
2014-10-30 |