Incidental Mutation 'I2288:Or52d3'
| ID |
7903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52d3
|
| Ensembl Gene |
ENSMUSG00000073926 |
| Gene Name |
olfactory receptor family 52 subfamily D member 3 |
| Synonyms |
GA_x6K02T2PBJ9-7206970-7207923, Olfr653, MOR33-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
I2288 (G3)
of strain
633
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104228831-104229876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104229593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 247
(C247R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098174]
[ENSMUST00000215585]
[ENSMUST00000217466]
|
| AlphaFold |
E9PVA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098174
AA Change: C247R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: C247R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
316 |
2.2e-111 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
179 |
4.6e-10 |
PFAM |
|
Pfam:7tm_1
|
47 |
298 |
5.9e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215585
AA Change: C247R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217466
AA Change: C247R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.8636 |
| Coding Region Coverage |
|
| Validation Efficiency |
71% (138/195) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
| Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
| Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
| Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
| Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
| Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
| Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
| Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
|
| Other mutations in Or52d3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01588:Or52d3
|
APN |
7 |
104,229,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Or52d3
|
UTSW |
7 |
104,229,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0325:Or52d3
|
UTSW |
7 |
104,229,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Or52d3
|
UTSW |
7 |
104,229,268 (GRCm39) |
nonsense |
probably null |
|
|
R1599:Or52d3
|
UTSW |
7 |
104,228,855 (GRCm39) |
start codon destroyed |
probably null |
|
|
R1956:Or52d3
|
UTSW |
7 |
104,229,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Or52d3
|
UTSW |
7 |
104,228,848 (GRCm39) |
start gained |
probably benign |
|
|
R2418:Or52d3
|
UTSW |
7 |
104,229,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2483:Or52d3
|
UTSW |
7 |
104,229,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Or52d3
|
UTSW |
7 |
104,229,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Or52d3
|
UTSW |
7 |
104,229,575 (GRCm39) |
missense |
probably benign |
|
|
R4755:Or52d3
|
UTSW |
7 |
104,229,268 (GRCm39) |
nonsense |
probably null |
|
|
R4757:Or52d3
|
UTSW |
7 |
104,229,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4828:Or52d3
|
UTSW |
7 |
104,229,180 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4842:Or52d3
|
UTSW |
7 |
104,229,422 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5496:Or52d3
|
UTSW |
7 |
104,229,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Or52d3
|
UTSW |
7 |
104,229,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Or52d3
|
UTSW |
7 |
104,229,645 (GRCm39) |
nonsense |
probably null |
|
|
R7590:Or52d3
|
UTSW |
7 |
104,229,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7968:Or52d3
|
UTSW |
7 |
104,229,595 (GRCm39) |
nonsense |
probably null |
|
|
R8491:Or52d3
|
UTSW |
7 |
104,229,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9306:Or52d3
|
UTSW |
7 |
104,229,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Or52d3
|
UTSW |
7 |
104,228,855 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9557:Or52d3
|
UTSW |
7 |
104,229,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Or52d3
|
UTSW |
7 |
104,229,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Or52d3
|
UTSW |
7 |
104,229,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-11-13 |
Incidental Mutation