Incidental Mutation 'R0598:Or2y1d'
| ID |
55170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y1d
|
| Ensembl Gene |
ENSMUSG00000107573 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 1D |
| Synonyms |
Olfr1389, MOR256-1, GA_x6K02T2QP88-6004387-6003452 |
| MMRRC Submission |
038787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R0598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49321254-49322326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49322230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 309
(D309G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000203369]
[ENSMUST00000216641]
[ENSMUST00000217595]
|
| AlphaFold |
Q8VGX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052274
AA Change: D309G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000052151
Gene: ENSMUSG00000046575
AA Change: D309G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
1.9e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
6.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203369
AA Change: D309G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000145461
Gene: ENSMUSG00000107573
AA Change: D309G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
1.9e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
6.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216641
AA Change: D309G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217595
AA Change: D309G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Cpt2 |
G |
T |
4: 107,764,135 (GRCm39) |
T543N |
probably damaging |
Het |
| Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 124,094,848 (GRCm39) |
H167R |
possibly damaging |
Het |
| Kctd1 |
A |
G |
18: 15,140,822 (GRCm39) |
V40A |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
| Lrp8 |
A |
C |
4: 107,714,434 (GRCm39) |
I603L |
possibly damaging |
Het |
| Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
| Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
| Padi1 |
C |
A |
4: 140,542,098 (GRCm39) |
R608L |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
| Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
| St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
| Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
| Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
| Vsnl1 |
T |
C |
12: 11,436,860 (GRCm39) |
S40G |
probably benign |
Het |
| Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
probably damaging |
Het |
|
| Other mutations in Or2y1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02377:Or2y1d
|
APN |
11 |
49,321,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02468:Or2y1d
|
APN |
11 |
49,321,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02607:Or2y1d
|
APN |
11 |
49,321,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02721:Or2y1d
|
APN |
11 |
49,321,468 (GRCm39) |
nonsense |
probably null |
|
|
IGL02812:Or2y1d
|
APN |
11 |
49,321,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03086:Or2y1d
|
APN |
11 |
49,321,632 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03047:Or2y1d
|
UTSW |
11 |
49,321,794 (GRCm39) |
missense |
probably benign |
0.10 |
|
PIT4531001:Or2y1d
|
UTSW |
11 |
49,321,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0413:Or2y1d
|
UTSW |
11 |
49,322,212 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0653:Or2y1d
|
UTSW |
11 |
49,322,078 (GRCm39) |
nonsense |
probably null |
|
|
R1654:Or2y1d
|
UTSW |
11 |
49,321,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2321:Or2y1d
|
UTSW |
11 |
49,322,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4995:Or2y1d
|
UTSW |
11 |
49,321,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Or2y1d
|
UTSW |
11 |
49,322,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Or2y1d
|
UTSW |
11 |
49,321,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6327:Or2y1d
|
UTSW |
11 |
49,321,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Or2y1d
|
UTSW |
11 |
49,321,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7726:Or2y1d
|
UTSW |
11 |
49,321,727 (GRCm39) |
nonsense |
probably null |
|
|
R7923:Or2y1d
|
UTSW |
11 |
49,321,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8960:Or2y1d
|
UTSW |
11 |
49,321,543 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGATTCTGGGCTCCTATGGACAC -3'
(R):5'- AGGCTTCCTCCACTTGTAGAAATGC -3'
Sequencing Primer
(F):5'- CATTGCCAGAGCAATTCTGAG -3'
(R):5'- CCCTAATAGTCTTTTGGAACGTAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation