Incidental Mutation 'IGL03047:Or2y1d'
| ID |
392233 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
IGL03047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49321254-49322326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49321794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 164
(M164V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000203369]
[ENSMUST00000216641]
[ENSMUST00000217595]
|
| AlphaFold |
Q8VGX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185284
AA Change: M164V
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140561
Gene: ENSMUSG00000102024
AA Change: M164V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
41 |
289 |
2.3e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
282 |
3.8e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203369
AA Change: M164V
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145461
Gene: ENSMUSG00000107573
AA Change: M164V
| 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: M164V
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217595
AA Change: M164V
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.2821 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| 4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
| Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
| Asic3 |
A |
C |
5: 24,618,788 (GRCm39) |
M27L |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
| Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
| Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
G |
19: 39,722,904 (GRCm39) |
I215L |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,023 (GRCm39) |
I232K |
possibly damaging |
Het |
| Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
| Fbxo42 |
A |
G |
4: 140,926,853 (GRCm39) |
T378A |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
| Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
| Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
| Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
| Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
| Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
| Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,817,358 (GRCm39) |
R11K |
possibly damaging |
Het |
| Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
| Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
| Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
| Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
| Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
| Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
| Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,614,639 (GRCm39) |
H392Y |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
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 |
|
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 |
|
R0598:Or2y1d
|
UTSW |
11 |
49,322,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GGTTGGATAGGACCATCAGC -3'
(R):5'- ATGTGTCCATAGGAGCCCAG -3'
Sequencing Primer
(F):5'- CTGTGTGGCTCAGCTCC -3'
(R):5'- TGTCCATAGGAGCCCAGAATCAG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation