Incidental Mutation 'R0590:Or10ag60'
| ID |
55911 |
| 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 |
038780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R0590 (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 87438338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 202
(E202G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079711]
[ENSMUST00000213103]
[ENSMUST00000216580]
|
| AlphaFold |
A0A1L1SQT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079711
AA Change: E202G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078649
Gene: ENSMUSG00000068814
AA Change: E202G
| 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 |
probably damaging
Transcript: ENSMUST00000213103
AA Change: E202G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216580
AA Change: E202G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.3674 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
| Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,008,480 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
| Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
| Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
| Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
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 |
|
|
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 |
|
R4280:Or10ag60
|
UTSW |
2 |
87,438,595 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- CTGCTGGCTGTGATGTCTTATGACC -3'
(R):5'- AGTGCAGCAATCACCTCCTTGTTTC -3'
Sequencing Primer
(F):5'- TTGGTCATGAACCCAACAAAGTG -3'
(R):5'- GACTTTGGCCTCAAGTAGGTAATAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation