Incidental Mutation 'IGL00958:Or51a42'
| ID |
27880 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51a42
|
| Ensembl Gene |
ENSMUSG00000109824 |
| Gene Name |
olfactory receptor family 51 subfamily A member 42 |
| Synonyms |
MOR13-2, Olfr643, GA_x6K02T2PBJ9-6793628-6792684 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL00958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103707863-103708807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103708620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 63
(Y63C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074064]
[ENSMUST00000138055]
[ENSMUST00000217217]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074064
AA Change: Y63C
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: Y63C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
2.6e-124 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
255 |
3.1e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217217
AA Change: Y63C
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,103,324 (GRCm39) |
R635M |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,294 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cdk5rap3 |
T |
C |
11: 96,800,793 (GRCm39) |
N348D |
probably benign |
Het |
| Cep295nl |
G |
A |
11: 118,224,730 (GRCm39) |
T38I |
probably damaging |
Het |
| Col3a1 |
T |
G |
1: 45,366,755 (GRCm39) |
S232A |
unknown |
Het |
| Ddx1 |
T |
C |
12: 13,290,849 (GRCm39) |
|
probably null |
Het |
| Gckr |
A |
T |
5: 31,456,129 (GRCm39) |
|
probably null |
Het |
| Gm5800 |
A |
G |
14: 51,951,269 (GRCm39) |
L110P |
possibly damaging |
Het |
| H2ac25 |
G |
T |
11: 58,845,766 (GRCm39) |
G68V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,516 (GRCm39) |
I253V |
probably benign |
Het |
| Or10q1b |
G |
A |
19: 13,683,096 (GRCm39) |
V302I |
probably benign |
Het |
| Or13a28 |
T |
A |
7: 140,218,169 (GRCm39) |
L185H |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,266,928 (GRCm39) |
I47V |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,565 (GRCm39) |
*313Q |
probably null |
Het |
| Or8b3b |
A |
G |
9: 38,584,320 (GRCm39) |
V153A |
probably benign |
Het |
| Pias3 |
C |
T |
3: 96,606,738 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
G |
1: 171,105,453 (GRCm39) |
|
probably null |
Het |
| Raet1d |
A |
G |
10: 22,246,791 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rcan2 |
G |
A |
17: 44,347,908 (GRCm39) |
V206I |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,270,864 (GRCm39) |
Y288H |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,049 (GRCm39) |
L545P |
probably damaging |
Het |
| Tmem145 |
T |
G |
7: 25,006,782 (GRCm39) |
|
probably null |
Het |
| Trib2 |
T |
C |
12: 15,843,634 (GRCm39) |
E336G |
possibly damaging |
Het |
|
| Other mutations in Or51a42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Or51a42
|
APN |
7 |
103,708,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02319:Or51a42
|
APN |
7 |
103,708,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Or51a42
|
APN |
7 |
103,708,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0254:Or51a42
|
UTSW |
7 |
103,708,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0850:Or51a42
|
UTSW |
7 |
103,708,252 (GRCm39) |
missense |
probably benign |
|
|
R1443:Or51a42
|
UTSW |
7 |
103,707,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Or51a42
|
UTSW |
7 |
103,708,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1669:Or51a42
|
UTSW |
7 |
103,708,516 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1990:Or51a42
|
UTSW |
7 |
103,708,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2207:Or51a42
|
UTSW |
7 |
103,708,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4456:Or51a42
|
UTSW |
7 |
103,708,507 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4719:Or51a42
|
UTSW |
7 |
103,707,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Or51a42
|
UTSW |
7 |
103,708,504 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Or51a42
|
UTSW |
7 |
103,708,523 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2013-04-17 |
Incidental Mutation