Incidental Mutation 'R3077:Or51a7'
| ID |
265253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a7
|
| Ensembl Gene |
ENSMUSG00000073962 |
| Gene Name |
olfactory receptor family 51 subfamily A member 7 |
| Synonyms |
GA_x6K02T2PBJ9-5676385-5677371, MOR8-5, Olfr576 |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102614309-102615247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102615223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 305
(K305N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098213]
[ENSMUST00000185326]
|
| AlphaFold |
A0A0G2JFH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098213
AA Change: K305N
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: K305N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
301 |
6.2e-12 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
2.5e-29 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
3.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185326
AA Change: K305N
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
AA Change: K305N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
300 |
9.7e-12 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
1.8e-29 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.6e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Pwwp2a |
A |
G |
11: 43,596,212 (GRCm39) |
N184S |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,508 (GRCm39) |
R199G |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,924,199 (GRCm39) |
E807G |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Or51a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Or51a7
|
APN |
7 |
102,615,235 (GRCm39) |
splice site |
probably benign |
|
|
IGL01695:Or51a7
|
APN |
7 |
102,614,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01707:Or51a7
|
APN |
7 |
102,615,126 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02637:Or51a7
|
APN |
7 |
102,622,250 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1636:Or51a7
|
UTSW |
7 |
102,614,898 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3079:Or51a7
|
UTSW |
7 |
102,622,254 (GRCm39) |
splice site |
probably null |
|
|
R3803:Or51a7
|
UTSW |
7 |
102,615,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4342:Or51a7
|
UTSW |
7 |
102,615,231 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4866:Or51a7
|
UTSW |
7 |
102,614,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5193:Or51a7
|
UTSW |
7 |
102,615,143 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5194:Or51a7
|
UTSW |
7 |
102,615,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9002:Or51a7
|
UTSW |
7 |
102,614,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9590:Or51a7
|
UTSW |
7 |
102,614,553 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTAAGGCTCTAAATACCTGTG -3'
(R):5'- ATTACTGCAAATGTTCTCAACCCG -3'
Sequencing Primer
(F):5'- AAGGCTCTAAATACCTGTGTCTCC -3'
(R):5'- GCAAATGTTCTCAACCCGATTATAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation