Incidental Mutation 'R0850:Or51a42'
| ID |
82517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a42
|
| Ensembl Gene |
ENSMUSG00000109824 |
| Gene Name |
olfactory receptor family 51 subfamily A member 42 |
| Synonyms |
MOR13-2, Olfr643, GA_x6K02T2PBJ9-6793628-6792684 |
| MMRRC Submission |
039029-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R0850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103707863-103708807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103708252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 186
(M186L)
|
| 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: M186L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: M186L
| 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: M186L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| 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 |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Aadacl2fm2 |
T |
G |
3: 59,659,669 (GRCm39) |
I374R |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,776,139 (GRCm39) |
F210Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,802,444 (GRCm39) |
V418A |
possibly damaging |
Het |
| Dmp1 |
A |
T |
5: 104,360,653 (GRCm39) |
D443V |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,467,993 (GRCm39) |
N220K |
probably damaging |
Het |
| Elavl3 |
T |
G |
9: 21,948,059 (GRCm39) |
D35A |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,478,685 (GRCm39) |
K425R |
probably benign |
Het |
| Gypa |
A |
G |
8: 81,222,974 (GRCm39) |
H26R |
unknown |
Het |
| H2-DMb1 |
T |
C |
17: 34,374,536 (GRCm39) |
V62A |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,272 (GRCm39) |
H472R |
probably damaging |
Het |
| Herc1 |
T |
G |
9: 66,373,952 (GRCm39) |
V3197G |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,854,231 (GRCm39) |
N3712K |
probably benign |
Het |
| Herc6 |
T |
C |
6: 57,560,227 (GRCm39) |
V89A |
possibly damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,599 (GRCm39) |
T213A |
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,855 (GRCm39) |
S381P |
probably damaging |
Het |
| Kif19a |
C |
A |
11: 114,671,613 (GRCm39) |
P164Q |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,368,195 (GRCm39) |
S2189P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,328 (GRCm39) |
N329S |
probably damaging |
Het |
| Mrps15 |
A |
G |
4: 125,942,479 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,337,593 (GRCm39) |
V280A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,858,773 (GRCm39) |
R1506G |
possibly damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,030 (GRCm39) |
Q311H |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,415 (GRCm39) |
Y1137H |
probably damaging |
Het |
| Scaf8 |
A |
G |
17: 3,246,049 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
A |
T |
16: 17,745,145 (GRCm39) |
F105Y |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,327 (GRCm39) |
V327A |
probably benign |
Het |
| Spmip3 |
A |
G |
1: 177,568,571 (GRCm39) |
T23A |
probably benign |
Het |
| Tmed10 |
A |
G |
12: 85,390,279 (GRCm39) |
F195L |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,732 (GRCm39) |
I151F |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,525,279 (GRCm39) |
F312L |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,026,663 (GRCm39) |
|
probably null |
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 |
|
IGL00958:Or51a42
|
APN |
7 |
103,708,620 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACAGGGTTGAGCATTGGAGGCAC -3'
(R):5'- TGTAGCAATCTGTAACCCACTGCAC -3'
Sequencing Primer
(F):5'- ATGCCTCCCATAGCGAGC -3'
(R):5'- ACTATTCCACAGTGCTCACTGATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation