Incidental Mutation 'R1231:Or2t1'
| ID |
152298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2t1
|
| Ensembl Gene |
ENSMUSG00000072707 |
| Gene Name |
olfactory receptor family 2 subfamily T member 1 |
| Synonyms |
MTPCR53, GA_x6K02T2PLTE-6714644-6715597, Olfr31, MOR274-1 |
| MMRRC Submission |
039300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R1231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
8140697-8141650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14328515 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 135
(M135L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100872]
[ENSMUST00000206009]
[ENSMUST00000217035]
|
| AlphaFold |
E9Q3K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100872
AA Change: M135L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000098434
Gene: ENSMUSG00000072707
AA Change: M135L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
5.7e-50 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
3.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206009
AA Change: M135L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217035
AA Change: M135L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224991
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
| Cabp5 |
T |
C |
7: 13,139,350 (GRCm39) |
I125T |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
| Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
| Mtmr9 |
A |
T |
14: 63,765,640 (GRCm39) |
N418K |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Psg16 |
T |
A |
7: 16,829,230 (GRCm39) |
Y271* |
probably null |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| St8sia5 |
T |
C |
18: 77,320,502 (GRCm39) |
Y49H |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
probably damaging |
Het |
|
| Other mutations in Or2t1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02550:Or2t1
|
APN |
14 |
14,328,423 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02566:Or2t1
|
APN |
14 |
14,328,138 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02902:Or2t1
|
APN |
14 |
14,328,789 (GRCm38) |
missense |
probably benign |
|
|
IGL03106:Or2t1
|
APN |
14 |
14,328,851 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03214:Or2t1
|
APN |
14 |
14,328,284 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0333:Or2t1
|
UTSW |
14 |
14,328,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0828:Or2t1
|
UTSW |
14 |
14,328,800 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1725:Or2t1
|
UTSW |
14 |
14,328,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1823:Or2t1
|
UTSW |
14 |
14,328,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1824:Or2t1
|
UTSW |
14 |
14,328,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2026:Or2t1
|
UTSW |
14 |
14,328,891 (GRCm38) |
missense |
probably benign |
0.10 |
|
R3891:Or2t1
|
UTSW |
14 |
14,328,114 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R4327:Or2t1
|
UTSW |
14 |
14,328,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4328:Or2t1
|
UTSW |
14 |
14,328,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4608:Or2t1
|
UTSW |
14 |
14,328,887 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4893:Or2t1
|
UTSW |
14 |
14,328,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5197:Or2t1
|
UTSW |
14 |
14,328,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5402:Or2t1
|
UTSW |
14 |
14,328,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5787:Or2t1
|
UTSW |
14 |
14,328,725 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5897:Or2t1
|
UTSW |
14 |
14,328,120 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7340:Or2t1
|
UTSW |
14 |
14,328,401 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7709:Or2t1
|
UTSW |
14 |
14,328,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8284:Or2t1
|
UTSW |
14 |
14,329,011 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9166:Or2t1
|
UTSW |
14 |
14,329,059 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9427:Or2t1
|
UTSW |
14 |
14,328,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9481:Or2t1
|
UTSW |
14 |
14,328,756 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTGATCCACACAGACGCTCAC -3'
(R):5'- CCGCGCATAGGATGAGATAACCAC -3'
Sequencing Primer
(F):5'- TCAACCATTGTGCCCAAGATG -3'
(R):5'- TACATCACCGTCTCATAGAGGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation