Incidental Mutation 'IGL01946:Or52r1b'
| ID |
180948 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52r1b
|
| Ensembl Gene |
ENSMUSG00000073961 |
| Gene Name |
olfactory receptor family 52 subfamily R member 1B |
| Synonyms |
MOR30-3, Olfr582, GA_x6K02T2PBJ9-5752857-5753801 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102690688-102691647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102691357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 219
(S219T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098212]
[ENSMUST00000210119]
[ENSMUST00000211036]
[ENSMUST00000214021]
|
| AlphaFold |
Q8VGV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098212
AA Change: S224T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095813
Gene: ENSMUSG00000073961
AA Change: S224T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
317 |
2.2e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
42 |
179 |
1.6e-10 |
PFAM |
|
Pfam:7tm_1
|
48 |
299 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210119
AA Change: S219T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211036
AA Change: S219T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214021
AA Change: S219T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
| Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
| Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
| Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
| Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
| H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
| Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
| Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
| Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
| Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
| Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
| Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
| Other mutations in Or52r1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02236:Or52r1b
|
APN |
7 |
102,690,928 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02448:Or52r1b
|
APN |
7 |
102,691,604 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03056:Or52r1b
|
APN |
7 |
102,690,958 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03351:Or52r1b
|
APN |
7 |
102,691,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Or52r1b
|
APN |
7 |
102,690,972 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1762:Or52r1b
|
UTSW |
7 |
102,691,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Or52r1b
|
UTSW |
7 |
102,690,731 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3758:Or52r1b
|
UTSW |
7 |
102,691,177 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4668:Or52r1b
|
UTSW |
7 |
102,691,058 (GRCm39) |
missense |
probably benign |
|
|
R5568:Or52r1b
|
UTSW |
7 |
102,691,517 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5573:Or52r1b
|
UTSW |
7 |
102,691,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Or52r1b
|
UTSW |
7 |
102,690,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7112:Or52r1b
|
UTSW |
7 |
102,690,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7223:Or52r1b
|
UTSW |
7 |
102,690,839 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7875:Or52r1b
|
UTSW |
7 |
102,691,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation