Incidental Mutation 'IGL02891:Or2d3c'
| ID |
363172 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2d3c
|
| Ensembl Gene |
ENSMUSG00000062553 |
| Gene Name |
olfactory receptor family 2 subfamily D member 3C |
| Synonyms |
MOR260-7, GA_x6K02T2PBJ9-9307730-9306814, Olfr709 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
IGL02891
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
106525744-106526664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106526288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 126
(V126A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072368]
[ENSMUST00000215468]
|
| AlphaFold |
A0A140T8J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072368
AA Change: V126A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072205
Gene: ENSMUSG00000062553
AA Change: V126A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
7.8e-58 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
282 |
8.4e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.9e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215468
AA Change: V126A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,500,340 (GRCm39) |
S1284P |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,622,052 (GRCm39) |
V763A |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,628,396 (GRCm39) |
M256K |
probably benign |
Het |
| Afg2a |
T |
A |
3: 37,480,341 (GRCm39) |
V130D |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,073,048 (GRCm39) |
S125G |
probably benign |
Het |
| Clu |
T |
A |
14: 66,213,433 (GRCm39) |
F273Y |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,890,676 (GRCm39) |
D869G |
probably benign |
Het |
| Elapor1 |
C |
T |
3: 108,371,708 (GRCm39) |
R672Q |
probably benign |
Het |
| Emx1 |
T |
C |
6: 85,181,067 (GRCm39) |
|
probably benign |
Het |
| Ercc2 |
T |
G |
7: 19,127,211 (GRCm39) |
F316C |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,017,558 (GRCm39) |
L129P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,422 (GRCm39) |
N1940K |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,727,098 (GRCm39) |
|
probably benign |
Het |
| Ift70b |
C |
T |
2: 75,767,404 (GRCm39) |
V450M |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,502,544 (GRCm39) |
D879E |
probably damaging |
Het |
| Kti12 |
T |
G |
4: 108,705,730 (GRCm39) |
S215A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,335,648 (GRCm39) |
L26F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,882,570 (GRCm39) |
N74S |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,835 (GRCm39) |
V246E |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,114,334 (GRCm39) |
D20G |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,088 (GRCm39) |
Q923* |
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,599,942 (GRCm39) |
S333T |
possibly damaging |
Het |
| Skint10 |
T |
A |
4: 112,586,023 (GRCm39) |
I198F |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,926,038 (GRCm39) |
P647L |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,932,859 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
C |
12: 87,118,042 (GRCm39) |
F216L |
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,931,392 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,437,166 (GRCm39) |
Q217K |
probably benign |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,598,952 (GRCm39) |
W212* |
probably null |
Het |
| Zfp687 |
G |
T |
3: 94,919,257 (GRCm39) |
P172T |
probably damaging |
Het |
|
| Other mutations in Or2d3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Or2d3c
|
APN |
7 |
106,526,627 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02111:Or2d3c
|
APN |
7 |
106,525,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Or2d3c
|
UTSW |
7 |
106,526,049 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1553:Or2d3c
|
UTSW |
7 |
106,526,201 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1701:Or2d3c
|
UTSW |
7 |
106,526,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Or2d3c
|
UTSW |
7 |
106,526,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Or2d3c
|
UTSW |
7 |
106,526,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Or2d3c
|
UTSW |
7 |
106,525,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Or2d3c
|
UTSW |
7 |
106,526,301 (GRCm39) |
nonsense |
probably null |
|
|
R4640:Or2d3c
|
UTSW |
7 |
106,525,800 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5153:Or2d3c
|
UTSW |
7 |
106,525,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5221:Or2d3c
|
UTSW |
7 |
106,526,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5591:Or2d3c
|
UTSW |
7 |
106,526,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Or2d3c
|
UTSW |
7 |
106,525,896 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7358:Or2d3c
|
UTSW |
7 |
106,526,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Or2d3c
|
UTSW |
7 |
106,526,483 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7720:Or2d3c
|
UTSW |
7 |
106,526,618 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7860:Or2d3c
|
UTSW |
7 |
106,525,777 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8814:Or2d3c
|
UTSW |
7 |
106,526,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Or2d3c
|
UTSW |
7 |
106,526,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9342:Or2d3c
|
UTSW |
7 |
106,526,564 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9564:Or2d3c
|
UTSW |
7 |
106,525,847 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation