Incidental Mutation 'IGL02315:Or8d2b'
| ID |
287994 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8d2b
|
| Ensembl Gene |
ENSMUSG00000064333 |
| Gene Name |
olfactory receptor family 8 subfamily D member 2D |
| Synonyms |
MOR171-8, Olfr926, GA_x6K02T2PVTD-32573036-32573962 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL02315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38788474-38789400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38789353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 294
(V294I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078289]
|
| AlphaFold |
Q9EQ98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078289
AA Change: V294I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077405
Gene: ENSMUSG00000064333
AA Change: V294I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
2.9e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
282 |
8.6e-7 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
1.6e-20 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
| Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
| Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,062,469 (GRCm39) |
H19L |
probably benign |
Het |
| Ghitm |
A |
T |
14: 36,853,521 (GRCm39) |
N106K |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
| Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,470,014 (GRCm39) |
F502S |
probably damaging |
Het |
| Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
| Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,549,021 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
| Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,057,549 (GRCm39) |
S285P |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
Het |
|
| Other mutations in Or8d2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Or8d2b
|
APN |
9 |
38,788,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02626:Or8d2b
|
APN |
9 |
38,788,784 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03001:Or8d2b
|
APN |
9 |
38,789,374 (GRCm39) |
missense |
probably benign |
|
|
IGL03085:Or8d2b
|
APN |
9 |
38,788,959 (GRCm39) |
missense |
probably benign |
|
|
R0365:Or8d2b
|
UTSW |
9 |
38,788,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0600:Or8d2b
|
UTSW |
9 |
38,789,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0708:Or8d2b
|
UTSW |
9 |
38,788,571 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1178:Or8d2b
|
UTSW |
9 |
38,789,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Or8d2b
|
UTSW |
9 |
38,789,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1856:Or8d2b
|
UTSW |
9 |
38,788,892 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1924:Or8d2b
|
UTSW |
9 |
38,789,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Or8d2b
|
UTSW |
9 |
38,789,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3729:Or8d2b
|
UTSW |
9 |
38,788,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Or8d2b
|
UTSW |
9 |
38,788,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4292:Or8d2b
|
UTSW |
9 |
38,788,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Or8d2b
|
UTSW |
9 |
38,788,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4295:Or8d2b
|
UTSW |
9 |
38,788,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Or8d2b
|
UTSW |
9 |
38,789,400 (GRCm39) |
makesense |
probably null |
|
|
R5026:Or8d2b
|
UTSW |
9 |
38,789,195 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5086:Or8d2b
|
UTSW |
9 |
38,789,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Or8d2b
|
UTSW |
9 |
38,788,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Or8d2b
|
UTSW |
9 |
38,788,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5998:Or8d2b
|
UTSW |
9 |
38,789,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6101:Or8d2b
|
UTSW |
9 |
38,788,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6105:Or8d2b
|
UTSW |
9 |
38,788,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6176:Or8d2b
|
UTSW |
9 |
38,788,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6403:Or8d2b
|
UTSW |
9 |
38,788,538 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8116:Or8d2b
|
UTSW |
9 |
38,789,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8144:Or8d2b
|
UTSW |
9 |
38,788,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Or8d2b
|
UTSW |
9 |
38,789,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Or8d2b
|
UTSW |
9 |
38,789,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9550:Or8d2b
|
UTSW |
9 |
38,788,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9614:Or8d2b
|
UTSW |
9 |
38,789,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF014:Or8d2b
|
UTSW |
9 |
38,789,196 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0022:Or8d2b
|
UTSW |
9 |
38,788,952 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2015-04-16 |
Incidental Mutation