Incidental Mutation 'IGL01371:Or10j27'
| ID |
76138 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10j27
|
| Ensembl Gene |
ENSMUSG00000062527 |
| Gene Name |
olfactory receptor family 10 subfamily J member 27 |
| Synonyms |
MOR267-4, GA_x6K02T2R7CC-715776-716708, Olfr1408 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL01371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172957767-172964901 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172958098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073663]
[ENSMUST00000200689]
|
| AlphaFold |
Q8VG32 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073663
AA Change: S229P
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073345
Gene: ENSMUSG00000062527
AA Change: S229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.5e-55 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
9.4e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200689
AA Change: S229P
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143864
Gene: ENSMUSG00000062527
AA Change: S229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.5e-55 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
9.4e-19 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,602,340 (GRCm39) |
R691Q |
probably benign |
Het |
| Ambra1 |
G |
T |
2: 91,655,631 (GRCm39) |
G700W |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,683,204 (GRCm39) |
I198V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,946,733 (GRCm39) |
N2353S |
probably benign |
Het |
| Cd84 |
A |
T |
1: 171,713,937 (GRCm39) |
T312S |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,692,325 (GRCm39) |
C1064F |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,666,433 (GRCm39) |
D473G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,593 (GRCm39) |
R1793G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,605,285 (GRCm39) |
N2374S |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,809,718 (GRCm39) |
L1583P |
probably damaging |
Het |
| Gm43191 |
A |
T |
3: 116,439,112 (GRCm39) |
I130N |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,840,581 (GRCm39) |
L475R |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,595,783 (GRCm39) |
V615A |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,975 (GRCm39) |
E504G |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,201,705 (GRCm39) |
Q462L |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,401,743 (GRCm39) |
W755R |
probably damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,192 (GRCm39) |
T277I |
possibly damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,267 (GRCm39) |
K318M |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,400,390 (GRCm39) |
F1034L |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,856,325 (GRCm39) |
D551E |
probably benign |
Het |
| Panx3 |
T |
G |
9: 37,572,771 (GRCm39) |
T260P |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,255,824 (GRCm39) |
S194T |
probably benign |
Het |
| Rnf135 |
T |
A |
11: 80,080,081 (GRCm39) |
I124N |
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,213,302 (GRCm39) |
N283S |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,266,951 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,849 (GRCm39) |
E2702G |
probably benign |
Het |
| Tbk1 |
A |
T |
10: 121,395,776 (GRCm39) |
M439K |
probably benign |
Het |
| Tmem235 |
T |
C |
11: 117,753,132 (GRCm39) |
L85P |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,620,608 (GRCm39) |
|
probably benign |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,160 (GRCm39) |
F299S |
probably benign |
Het |
|
| Other mutations in Or10j27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Or10j27
|
APN |
1 |
172,957,978 (GRCm39) |
nonsense |
probably null |
|
|
IGL01816:Or10j27
|
APN |
1 |
172,957,840 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02543:Or10j27
|
APN |
1 |
172,957,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03104:Or10j27
|
APN |
1 |
172,958,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03183:Or10j27
|
APN |
1 |
172,958,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0940:Or10j27
|
UTSW |
1 |
172,958,020 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1835:Or10j27
|
UTSW |
1 |
172,958,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1993:Or10j27
|
UTSW |
1 |
172,958,418 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1994:Or10j27
|
UTSW |
1 |
172,958,418 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4438:Or10j27
|
UTSW |
1 |
172,957,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4948:Or10j27
|
UTSW |
1 |
172,958,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Or10j27
|
UTSW |
1 |
172,958,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Or10j27
|
UTSW |
1 |
172,958,484 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5118:Or10j27
|
UTSW |
1 |
172,958,484 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5344:Or10j27
|
UTSW |
1 |
172,958,673 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8176:Or10j27
|
UTSW |
1 |
172,958,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Or10j27
|
UTSW |
1 |
172,958,266 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-10-07 |
Incidental Mutation