Incidental Mutation 'IGL00820:Or52e19b'
| ID |
12853 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52e19b
|
| Ensembl Gene |
ENSMUSG00000059874 |
| Gene Name |
olfactory receptor family 52 subfamily E member 19B |
| Synonyms |
MOR32-2, GA_x6K02T2PBJ9-6092550-6092362, GA_x6K02T2PBJ9-6096387-6095449, Olfr604, Olfr603, MOR32-14_i |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL00820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103032269-103033207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103032672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 179
(T179I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071844]
[ENSMUST00000218246]
|
| AlphaFold |
L7N1Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071844
AA Change: T179I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071744
Gene: ENSMUSG00000059874
AA Change: T179I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
311 |
1.7e-120 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
210 |
1.9e-10 |
PFAM |
|
Pfam:7tm_1
|
43 |
293 |
5.4e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218246
AA Change: T179I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,083,878 (GRCm39) |
I631F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,467,664 (GRCm39) |
D314G |
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,068,914 (GRCm39) |
E41G |
possibly damaging |
Het |
| Ephx1 |
T |
C |
1: 180,827,386 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,437 (GRCm39) |
T144I |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,758,570 (GRCm39) |
A357V |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,252,337 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,294 (GRCm39) |
I2458L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,703 (GRCm39) |
V339A |
possibly damaging |
Het |
| Klk1b8 |
T |
C |
7: 43,604,210 (GRCm39) |
I226T |
probably benign |
Het |
| Mfsd6 |
C |
T |
1: 52,747,465 (GRCm39) |
V467M |
probably damaging |
Het |
| Mrpl16 |
T |
C |
19: 11,751,777 (GRCm39) |
V179A |
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,582,358 (GRCm39) |
T693A |
possibly damaging |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,317 (GRCm39) |
H285R |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spmip6 |
A |
T |
4: 41,507,178 (GRCm39) |
L206Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,679,251 (GRCm39) |
L68P |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,908,129 (GRCm39) |
T163I |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,069,034 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,850,888 (GRCm39) |
E117G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,437,378 (GRCm39) |
|
probably benign |
Het |
| Wipi1 |
A |
C |
11: 109,473,945 (GRCm39) |
|
probably benign |
Het |
| Zan |
A |
T |
5: 137,384,626 (GRCm39) |
C5133S |
unknown |
Het |
|
| Other mutations in Or52e19b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01582:Or52e19b
|
APN |
7 |
103,032,806 (GRCm39) |
nonsense |
probably null |
|
|
IGL01788:Or52e19b
|
APN |
7 |
103,032,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02837:Or52e19b
|
UTSW |
7 |
103,032,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Or52e19b
|
UTSW |
7 |
103,032,790 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2097:Or52e19b
|
UTSW |
7 |
103,032,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Or52e19b
|
UTSW |
7 |
103,032,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4870:Or52e19b
|
UTSW |
7 |
103,032,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Or52e19b
|
UTSW |
7 |
103,033,071 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6263:Or52e19b
|
UTSW |
7 |
103,032,403 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6385:Or52e19b
|
UTSW |
7 |
103,033,104 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6980:Or52e19b
|
UTSW |
7 |
103,032,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7474:Or52e19b
|
UTSW |
7 |
103,032,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7754:Or52e19b
|
UTSW |
7 |
103,032,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Or52e19b
|
UTSW |
7 |
103,032,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7947:Or52e19b
|
UTSW |
7 |
103,032,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7980:Or52e19b
|
UTSW |
7 |
103,032,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8176:Or52e19b
|
UTSW |
7 |
103,033,071 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8523:Or52e19b
|
UTSW |
7 |
103,032,413 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8817:Or52e19b
|
UTSW |
7 |
103,032,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Or52e19b
|
UTSW |
7 |
103,032,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8968:Or52e19b
|
UTSW |
7 |
103,032,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Or52e19b
|
UTSW |
7 |
103,032,487 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9770:Or52e19b
|
UTSW |
7 |
103,032,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or52e19b
|
UTSW |
7 |
103,033,009 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-12-06 |
Incidental Mutation