Incidental Mutation 'R5280:Or52ab4'
| ID |
404164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52ab4
|
| Ensembl Gene |
ENSMUSG00000073950 |
| Gene Name |
olfactory receptor family 52 subfamily AB member 4 |
| Synonyms |
Olfr599, MOR23-1, GA_x6K02T2PBJ9-6047402-6048349 |
| MMRRC Submission |
042840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5280 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102987219-102988268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102987708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 149
(V149A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098201]
[ENSMUST00000214329]
[ENSMUST00000215042]
|
| AlphaFold |
Q8VG01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098201
AA Change: V149A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: V149A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
311 |
1.8e-94 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
308 |
1.2e-6 |
PFAM |
|
Pfam:7tm_1
|
43 |
293 |
2.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214329
AA Change: V149A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215042
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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 |
|---|
| Adgrf5 |
C |
T |
17: 43,737,225 (GRCm39) |
T218I |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,545,584 (GRCm39) |
S5567I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,813 (GRCm39) |
T397A |
probably benign |
Het |
| Atp9a |
T |
A |
2: 168,481,908 (GRCm39) |
Y880F |
possibly damaging |
Het |
| Celsr1 |
T |
C |
15: 85,814,747 (GRCm39) |
T1905A |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,442,582 (GRCm39) |
A656V |
possibly damaging |
Het |
| Dffa |
A |
G |
4: 149,202,391 (GRCm39) |
N265S |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,674,545 (GRCm39) |
D109G |
probably benign |
Het |
| Gm20821 |
A |
T |
Y: 9,783,963 (GRCm39) |
K195M |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,870 (GRCm39) |
N289K |
unknown |
Het |
| Kank1 |
T |
C |
19: 25,388,669 (GRCm39) |
F781L |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,232,329 (GRCm39) |
M759L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,711,518 (GRCm39) |
Y307C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,037,168 (GRCm39) |
H6847R |
probably damaging |
Het |
| Or2ag19 |
G |
A |
7: 106,443,902 (GRCm39) |
C28Y |
probably benign |
Het |
| Pcdha5 |
C |
A |
18: 37,094,755 (GRCm39) |
Y421* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,590,731 (GRCm39) |
D1010E |
unknown |
Het |
| Pld2 |
A |
T |
11: 70,443,585 (GRCm39) |
D449V |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,038,832 (GRCm39) |
M1032I |
possibly damaging |
Het |
| Prickle2 |
C |
A |
6: 92,353,191 (GRCm39) |
L758F |
probably damaging |
Het |
| Sarm1 |
A |
G |
11: 78,374,302 (GRCm39) |
V564A |
probably damaging |
Het |
| Taf1b |
C |
A |
12: 24,599,437 (GRCm39) |
F398L |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,105,696 (GRCm39) |
I361T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,742,716 (GRCm39) |
V517A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,198,411 (GRCm39) |
K106E |
probably benign |
Het |
| Vcan |
C |
A |
13: 89,838,405 (GRCm39) |
V2380F |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,542 (GRCm39) |
S381P |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,155 (GRCm39) |
D719G |
probably damaging |
Het |
| Wdr5b |
T |
C |
16: 35,862,202 (GRCm39) |
V107A |
probably benign |
Het |
| Wdr7 |
G |
T |
18: 64,120,383 (GRCm39) |
V1475F |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,688 (GRCm39) |
D911G |
probably damaging |
Het |
| Zbtb32 |
T |
A |
7: 30,289,629 (GRCm39) |
E11V |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,812 (GRCm39) |
Y136D |
probably damaging |
Het |
|
| Other mutations in Or52ab4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01386:Or52ab4
|
APN |
7 |
102,987,974 (GRCm39) |
nonsense |
probably null |
|
|
IGL01744:Or52ab4
|
APN |
7 |
102,987,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02011:Or52ab4
|
APN |
7 |
102,988,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02328:Or52ab4
|
APN |
7 |
102,987,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02630:Or52ab4
|
APN |
7 |
102,987,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Or52ab4
|
APN |
7 |
102,987,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Or52ab4
|
UTSW |
7 |
102,987,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Or52ab4
|
UTSW |
7 |
102,987,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Or52ab4
|
UTSW |
7 |
102,987,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5068:Or52ab4
|
UTSW |
7 |
102,987,229 (GRCm39) |
start gained |
probably null |
|
|
R5069:Or52ab4
|
UTSW |
7 |
102,987,229 (GRCm39) |
start gained |
probably null |
|
|
R5816:Or52ab4
|
UTSW |
7 |
102,988,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6560:Or52ab4
|
UTSW |
7 |
102,987,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7001:Or52ab4
|
UTSW |
7 |
102,987,428 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7890:Or52ab4
|
UTSW |
7 |
102,987,537 (GRCm39) |
missense |
probably benign |
|
|
R8295:Or52ab4
|
UTSW |
7 |
102,987,474 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8430:Or52ab4
|
UTSW |
7 |
102,988,164 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8946:Or52ab4
|
UTSW |
7 |
102,987,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Or52ab4
|
UTSW |
7 |
102,987,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9402:Or52ab4
|
UTSW |
7 |
102,988,196 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGCTTTTGATGCTTGCC -3'
(R):5'- TGAATGCTTTGCTTCGTGCC -3'
Sequencing Primer
(F):5'- GATGCTTGCCTCACCCAG -3'
(R):5'- CTCTTTCTGAGGAAGACGAAAAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation