Incidental Mutation 'R4279:Or51a6'
| ID |
322801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a6
|
| Ensembl Gene |
ENSMUSG00000066269 |
| Gene Name |
olfactory receptor family 51 subfamily A member 6 |
| Synonyms |
GA_x6K02T2PBJ9-5666843-5665908, MOR8-1, Olfr575 |
| MMRRC Submission |
041079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R4279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102603871-102604827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102604292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 179
(Q179L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084812]
[ENSMUST00000209778]
[ENSMUST00000213477]
[ENSMUST00000216420]
|
| AlphaFold |
Q8VH16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084812
AA Change: Q179L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: Q179L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
318 |
4.6e-112 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
44 |
312 |
2.6e-10 |
PFAM |
|
Pfam:7tm_1
|
50 |
300 |
6.4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209778
AA Change: Q172L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213477
AA Change: Q172L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216420
AA Change: Q172L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
| Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
| Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
| Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
| Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
| Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
| Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Or51a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Or51a6
|
APN |
7 |
102,604,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02583:Or51a6
|
APN |
7 |
102,603,918 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0003:Or51a6
|
UTSW |
7 |
102,604,185 (GRCm39) |
missense |
probably benign |
|
|
R1553:Or51a6
|
UTSW |
7 |
102,604,425 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1641:Or51a6
|
UTSW |
7 |
102,604,175 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1993:Or51a6
|
UTSW |
7 |
102,603,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Or51a6
|
UTSW |
7 |
102,604,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5992:Or51a6
|
UTSW |
7 |
102,604,216 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6122:Or51a6
|
UTSW |
7 |
102,604,737 (GRCm39) |
missense |
probably benign |
|
|
R6122:Or51a6
|
UTSW |
7 |
102,604,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6391:Or51a6
|
UTSW |
7 |
102,604,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6685:Or51a6
|
UTSW |
7 |
102,604,888 (GRCm39) |
splice site |
probably null |
|
|
R7109:Or51a6
|
UTSW |
7 |
102,604,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Or51a6
|
UTSW |
7 |
102,604,185 (GRCm39) |
missense |
probably benign |
|
|
R7901:Or51a6
|
UTSW |
7 |
102,604,887 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8136:Or51a6
|
UTSW |
7 |
102,604,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Or51a6
|
UTSW |
7 |
102,604,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Or51a6
|
UTSW |
7 |
102,604,446 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9523:Or51a6
|
UTSW |
7 |
102,604,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Or51a6
|
UTSW |
7 |
102,604,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9671:Or51a6
|
UTSW |
7 |
102,604,633 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1177:Or51a6
|
UTSW |
7 |
102,604,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTATTGAGGGCCTTGAG -3'
(R):5'- ATGGCTTCACTGACATGGAG -3'
Sequencing Primer
(F):5'- TATGGGATCCAATGCCCATC -3'
(R):5'- GACATGGAGTCCTCAGTGCTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation