Incidental Mutation 'R4280:Or10ag60'
| ID |
322829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10ag60
|
| Ensembl Gene |
ENSMUSG00000059205 |
| Gene Name |
olfactory receptor family 10 subfamily AG member 60 |
| Synonyms |
GA_x6K02T2Q125-49112575-49113519, Olfr1130, MOR264-4 |
| MMRRC Submission |
041648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R4280 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87436556-87438678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87438595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 288
(T288A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079711]
[ENSMUST00000213103]
[ENSMUST00000216580]
|
| AlphaFold |
A0A1L1SQT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079711
AA Change: T288A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078649
Gene: ENSMUSG00000068814
AA Change: T288A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
3.4e-52 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213103
AA Change: T288A
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216580
AA Change: T288A
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
T |
C |
9: 32,171,185 (GRCm39) |
C1322R |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,741 (GRCm39) |
R292H |
probably damaging |
Het |
| Ccdc102a |
C |
A |
8: 95,634,444 (GRCm39) |
G382* |
probably null |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cep76 |
T |
A |
18: 67,773,229 (GRCm39) |
D23V |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,780 (GRCm39) |
M17V |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,340,892 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,645,930 (GRCm39) |
|
probably benign |
Het |
| Dgat2 |
A |
G |
7: 98,808,204 (GRCm39) |
I157T |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,341,986 (GRCm39) |
P355T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,023,330 (GRCm39) |
V24A |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,881,761 (GRCm39) |
M771K |
probably damaging |
Het |
| Mov10 |
A |
C |
3: 104,707,095 (GRCm39) |
F635V |
probably damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,905 (GRCm39) |
F79L |
probably benign |
Het |
| Or5an9 |
A |
G |
19: 12,187,302 (GRCm39) |
Y124C |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,829,269 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
T |
C |
9: 92,225,701 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,933,055 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,933,056 (GRCm39) |
|
probably null |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Polq |
C |
A |
16: 36,902,419 (GRCm39) |
Q2205K |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Pramel24 |
A |
G |
4: 143,452,592 (GRCm39) |
T8A |
possibly damaging |
Het |
| Psma8 |
T |
A |
18: 14,854,292 (GRCm39) |
D57E |
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,183,520 (GRCm39) |
Y361C |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rrp36 |
G |
A |
17: 46,983,302 (GRCm39) |
T104I |
probably damaging |
Het |
| Rrs1 |
G |
A |
1: 9,616,364 (GRCm39) |
G206S |
probably damaging |
Het |
| Scgb2b6 |
A |
G |
7: 31,318,367 (GRCm39) |
|
noncoding transcript |
Het |
| Skint5 |
T |
A |
4: 113,799,749 (GRCm39) |
K126I |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,028,704 (GRCm39) |
G202D |
probably damaging |
Het |
| Supt5 |
G |
A |
7: 28,016,498 (GRCm39) |
R761W |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,184,294 (GRCm39) |
|
probably null |
Het |
| Tob1 |
T |
C |
11: 94,105,148 (GRCm39) |
V228A |
probably benign |
Het |
| Traj44 |
T |
C |
14: 54,411,148 (GRCm39) |
|
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,709,478 (GRCm39) |
L291F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,310,658 (GRCm39) |
Q2078R |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
| Other mutations in Or10ag60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Or10ag60
|
APN |
2 |
87,438,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Or10ag60
|
APN |
2 |
87,437,852 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02558:Or10ag60
|
APN |
2 |
87,437,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0323:Or10ag60
|
UTSW |
2 |
87,437,841 (GRCm39) |
missense |
probably benign |
|
|
R0590:Or10ag60
|
UTSW |
2 |
87,438,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0718:Or10ag60
|
UTSW |
2 |
87,438,271 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2445:Or10ag60
|
UTSW |
2 |
87,438,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:Or10ag60
|
UTSW |
2 |
87,438,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4491:Or10ag60
|
UTSW |
2 |
87,437,736 (GRCm39) |
start codon destroyed |
probably null |
0.84 |
|
R4928:Or10ag60
|
UTSW |
2 |
87,438,487 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5033:Or10ag60
|
UTSW |
2 |
87,438,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Or10ag60
|
UTSW |
2 |
87,438,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5109:Or10ag60
|
UTSW |
2 |
87,438,319 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5109:Or10ag60
|
UTSW |
2 |
87,437,755 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5772:Or10ag60
|
UTSW |
2 |
87,438,517 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6004:Or10ag60
|
UTSW |
2 |
87,438,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Or10ag60
|
UTSW |
2 |
87,438,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6411:Or10ag60
|
UTSW |
2 |
87,438,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Or10ag60
|
UTSW |
2 |
87,437,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Or10ag60
|
UTSW |
2 |
87,437,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7484:Or10ag60
|
UTSW |
2 |
87,438,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Or10ag60
|
UTSW |
2 |
87,437,868 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8471:Or10ag60
|
UTSW |
2 |
87,437,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8485:Or10ag60
|
UTSW |
2 |
87,438,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8890:Or10ag60
|
UTSW |
2 |
87,438,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Or10ag60
|
UTSW |
2 |
87,438,421 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
X0060:Or10ag60
|
UTSW |
2 |
87,438,386 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Or10ag60
|
UTSW |
2 |
87,438,098 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCATTCTGAAGTTGCCAAC -3'
(R):5'- TTTCAGGCTATTACTCAAAGCAGC -3'
Sequencing Primer
(F):5'- TTCTGAAGTTGCCAACAGCCAC -3'
(R):5'- GGCTATTACTCAAAGCAGCACAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation