Incidental Mutation 'IGL03154:Or4d1'
| ID |
411192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4d1
|
| Ensembl Gene |
ENSMUSG00000060787 |
| Gene Name |
olfactory receptor family 4 subfamily D member 1 |
| Synonyms |
MOR240-2, Olfr464, GA_x6K02T2PAEV-9555122-9554181 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
IGL03154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87804746-87805829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87805072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 220
(V220D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074874]
[ENSMUST00000216461]
[ENSMUST00000217112]
|
| AlphaFold |
Q5SW48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074874
AA Change: V220D
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074415
Gene: ENSMUSG00000060787
AA Change: V220D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
4.3e-42 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
3.8e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215062
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216461
AA Change: V220D
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217112
AA Change: V220D
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
A |
G |
19: 20,608,132 (GRCm39) |
E318G |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,810 (GRCm39) |
W257R |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,800,268 (GRCm39) |
E1253G |
probably damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,010,533 (GRCm39) |
F368L |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,767 (GRCm39) |
N208I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,851,907 (GRCm39) |
D3655E |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,221,484 (GRCm39) |
D858V |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,845,232 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,507 (GRCm39) |
M1L |
probably benign |
Het |
| Igkv4-90 |
C |
T |
6: 68,784,256 (GRCm39) |
G87R |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,441,424 (GRCm39) |
G413S |
probably null |
Het |
| Iqch |
T |
A |
9: 63,361,964 (GRCm39) |
T850S |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 35,984,455 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,379,386 (GRCm39) |
S109P |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,337,038 (GRCm39) |
L1617P |
probably damaging |
Het |
| Or11g24 |
A |
T |
14: 50,662,080 (GRCm39) |
I35F |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,655 (GRCm39) |
I214F |
possibly damaging |
Het |
| Or52b3 |
G |
T |
7: 102,203,913 (GRCm39) |
V141L |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,223,857 (GRCm39) |
V727A |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,274,786 (GRCm39) |
H229R |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,806 (GRCm39) |
G1304S |
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,451,153 (GRCm39) |
N56S |
possibly damaging |
Het |
| Skint8 |
T |
A |
4: 111,796,707 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,625,255 (GRCm39) |
M1565K |
possibly damaging |
Het |
| Uso1 |
C |
A |
5: 92,328,477 (GRCm39) |
S358* |
probably null |
Het |
|
| Other mutations in Or4d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Or4d1
|
APN |
11 |
87,804,998 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02011:Or4d1
|
APN |
11 |
87,805,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02218:Or4d1
|
APN |
11 |
87,804,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Or4d1
|
APN |
11 |
87,804,956 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03083:Or4d1
|
APN |
11 |
87,804,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0241:Or4d1
|
UTSW |
11 |
87,804,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Or4d1
|
UTSW |
11 |
87,804,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Or4d1
|
UTSW |
11 |
87,805,136 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4734:Or4d1
|
UTSW |
11 |
87,805,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Or4d1
|
UTSW |
11 |
87,804,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5917:Or4d1
|
UTSW |
11 |
87,805,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6729:Or4d1
|
UTSW |
11 |
87,805,676 (GRCm39) |
nonsense |
probably null |
|
|
R8289:Or4d1
|
UTSW |
11 |
87,805,589 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8328:Or4d1
|
UTSW |
11 |
87,804,985 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8363:Or4d1
|
UTSW |
11 |
87,805,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation