Incidental Mutation 'IGL03199:Or10d4b'
| ID |
412917 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10d4b
|
| Ensembl Gene |
ENSMUSG00000059867 |
| Gene Name |
olfactory receptor family 10 subfamily D member 4B |
| Synonyms |
GA_x6K02T2PVTD-33320043-33320987, Olfr960, MOR224-12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL03199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39534421-39535461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39535240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 272
(I272V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077060]
[ENSMUST00000216584]
|
| AlphaFold |
Q8VET5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077060
AA Change: I274V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000076315
Gene: ENSMUSG00000059867
AA Change: I274V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.3e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
1e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215616
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216584
AA Change: I272V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,946,556 (GRCm39) |
I151T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,479 (GRCm39) |
M1904K |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,473 (GRCm39) |
F242Y |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,830 (GRCm39) |
G845D |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,670 (GRCm39) |
I244T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,761 (GRCm39) |
Q3499L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,344 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,740,655 (GRCm39) |
V358D |
probably damaging |
Het |
| Fndc3c1 |
T |
A |
X: 105,479,993 (GRCm39) |
K696N |
possibly damaging |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,000 (GRCm39) |
M12I |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,682,842 (GRCm39) |
E16G |
probably damaging |
Het |
| Myl7 |
C |
T |
11: 5,848,205 (GRCm39) |
G50R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Prkcz |
A |
G |
4: 155,357,441 (GRCm39) |
F157L |
possibly damaging |
Het |
| Sult2a1 |
C |
A |
7: 13,566,585 (GRCm39) |
G130V |
probably damaging |
Het |
| Trim27 |
G |
A |
13: 21,375,421 (GRCm39) |
|
probably null |
Het |
| Trim43b |
T |
G |
9: 88,971,481 (GRCm39) |
Q225P |
probably damaging |
Het |
| Ugt2b34 |
A |
G |
5: 87,054,739 (GRCm39) |
L14P |
unknown |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,220 (GRCm39) |
S157T |
possibly damaging |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,375 (GRCm39) |
V669D |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,365,611 (GRCm39) |
S15P |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,912 (GRCm39) |
Q29R |
probably benign |
Het |
| Zfp623 |
C |
T |
15: 75,819,119 (GRCm39) |
A25V |
probably benign |
Het |
|
| Other mutations in Or10d4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Or10d4b
|
APN |
9 |
39,534,661 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03031:Or10d4b
|
APN |
9 |
39,534,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Or10d4b
|
UTSW |
9 |
39,534,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Or10d4b
|
UTSW |
9 |
39,534,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Or10d4b
|
UTSW |
9 |
39,534,856 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5394:Or10d4b
|
UTSW |
9 |
39,534,430 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5934:Or10d4b
|
UTSW |
9 |
39,534,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Or10d4b
|
UTSW |
9 |
39,534,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Or10d4b
|
UTSW |
9 |
39,534,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Or10d4b
|
UTSW |
9 |
39,535,268 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7509:Or10d4b
|
UTSW |
9 |
39,534,623 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8063:Or10d4b
|
UTSW |
9 |
39,534,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9133:Or10d4b
|
UTSW |
9 |
39,534,809 (GRCm39) |
nonsense |
probably null |
|
|
R9653:Or10d4b
|
UTSW |
9 |
39,535,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation