Incidental Mutation 'R4197:Or6a2'
| ID |
318596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6a2
|
| Ensembl Gene |
ENSMUSG00000070417 |
| Gene Name |
olfactory receptor family 6 subfamily A member 2 |
| Synonyms |
Olfr41, Olfr2, I54, GA_x6K02T2PBJ9-9381439-9380456, MOR103-15, I7 |
| MMRRC Submission |
041028-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R4197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106600082-106601812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106600245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 274
(D274G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094109]
[ENSMUST00000207280]
[ENSMUST00000208147]
[ENSMUST00000211432]
[ENSMUST00000214105]
[ENSMUST00000216375]
|
| AlphaFold |
Q9QWU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094109
AA Change: D274G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: D274G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
313 |
9.2e-53 |
PFAM |
|
Pfam:7tm_1
|
42 |
295 |
3e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207280
AA Change: D274G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208147
AA Change: D274G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211432
AA Change: D274G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214105
AA Change: D274G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216375
AA Change: D274G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217764
|
| Meta Mutation Damage Score |
0.2112 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (42/42) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
| Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
| Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
| Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
| Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
| Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
| Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
| Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
| Other mutations in Or6a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02270:Or6a2
|
APN |
7 |
106,600,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Or6a2
|
APN |
7 |
106,600,825 (GRCm39) |
nonsense |
probably null |
|
|
IGL02942:Or6a2
|
APN |
7 |
106,600,561 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1171:Or6a2
|
UTSW |
7 |
106,600,791 (GRCm39) |
missense |
probably benign |
|
|
R1956:Or6a2
|
UTSW |
7 |
106,600,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Or6a2
|
UTSW |
7 |
106,600,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Or6a2
|
UTSW |
7 |
106,600,116 (GRCm39) |
missense |
probably benign |
|
|
R2351:Or6a2
|
UTSW |
7 |
106,600,883 (GRCm39) |
nonsense |
probably null |
|
|
R3752:Or6a2
|
UTSW |
7 |
106,600,682 (GRCm39) |
nonsense |
probably null |
|
|
R4237:Or6a2
|
UTSW |
7 |
106,600,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Or6a2
|
UTSW |
7 |
106,600,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4795:Or6a2
|
UTSW |
7 |
106,600,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Or6a2
|
UTSW |
7 |
106,600,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Or6a2
|
UTSW |
7 |
106,600,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5412:Or6a2
|
UTSW |
7 |
106,600,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5474:Or6a2
|
UTSW |
7 |
106,600,296 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5542:Or6a2
|
UTSW |
7 |
106,600,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Or6a2
|
UTSW |
7 |
106,600,650 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6149:Or6a2
|
UTSW |
7 |
106,600,807 (GRCm39) |
missense |
probably benign |
|
|
R7552:Or6a2
|
UTSW |
7 |
106,600,534 (GRCm39) |
missense |
probably benign |
|
|
R7838:Or6a2
|
UTSW |
7 |
106,600,514 (GRCm39) |
nonsense |
probably null |
|
|
R8177:Or6a2
|
UTSW |
7 |
106,600,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Or6a2
|
UTSW |
7 |
106,600,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9787:Or6a2
|
UTSW |
7 |
106,600,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGCTCCCTACCTAACCATCT -3'
(R):5'- CACAGCAGAGCTTACAGACTT -3'
Sequencing Primer
(F):5'- AACCATCTCTGCTGGATTTCTTGG -3'
(R):5'- GCAGAGCTTACAGACTTTATCCTGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation