Incidental Mutation 'BB015:Or52ae9'
| ID |
642853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52ae9
|
| Ensembl Gene |
ENSMUSG00000047545 |
| Gene Name |
olfactory receptor family 52 subfamily AE member 9 |
| Synonyms |
Olfr629, GA_x6K02T2PBJ9-6466772-6465828, MOR26-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
BB015
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103389408-103390529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103390397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 17
(I17F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051346]
[ENSMUST00000213906]
[ENSMUST00000216300]
|
| AlphaFold |
Q0VBH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051346
AA Change: I17F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052662
Gene: ENSMUSG00000047545
AA Change: I17F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
311 |
4.9e-103 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
307 |
1.6e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
292 |
5.7e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213906
AA Change: I17F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216300
AA Change: I17F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
| Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
| Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
| Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
| Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
| Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
| Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
| Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
| Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
| Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
probably damaging |
Het |
|
| Other mutations in Or52ae9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Or52ae9
|
APN |
7 |
103,390,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01531:Or52ae9
|
APN |
7 |
103,390,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02263:Or52ae9
|
APN |
7 |
103,390,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Or52ae9
|
APN |
7 |
103,389,710 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
BB005:Or52ae9
|
UTSW |
7 |
103,390,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Or52ae9
|
UTSW |
7 |
103,390,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Or52ae9
|
UTSW |
7 |
103,390,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Or52ae9
|
UTSW |
7 |
103,390,243 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1671:Or52ae9
|
UTSW |
7 |
103,389,617 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1781:Or52ae9
|
UTSW |
7 |
103,390,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1848:Or52ae9
|
UTSW |
7 |
103,390,381 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3930:Or52ae9
|
UTSW |
7 |
103,389,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4125:Or52ae9
|
UTSW |
7 |
103,390,207 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5321:Or52ae9
|
UTSW |
7 |
103,389,862 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6141:Or52ae9
|
UTSW |
7 |
103,389,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Or52ae9
|
UTSW |
7 |
103,389,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Or52ae9
|
UTSW |
7 |
103,389,875 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6755:Or52ae9
|
UTSW |
7 |
103,389,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7526:Or52ae9
|
UTSW |
7 |
103,389,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7928:Or52ae9
|
UTSW |
7 |
103,390,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Or52ae9
|
UTSW |
7 |
103,390,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8890:Or52ae9
|
UTSW |
7 |
103,389,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Or52ae9
|
UTSW |
7 |
103,390,319 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Or52ae9
|
UTSW |
7 |
103,390,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCAAAGTTGATCCAATGTTC -3'
(R):5'- GCACTCATATTTTCTGCCTGATGG -3'
Sequencing Primer
(F):5'- GATACCAAGCATCTTCAGAGCTGTAG -3'
(R):5'- CATCCCTAGTTTTAATATGGCAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation