Incidental Mutation 'R4475:Or10j2'
| ID |
330511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10j2
|
| Ensembl Gene |
ENSMUSG00000049605 |
| Gene Name |
olfactory receptor family 10 subfamily J member 2 |
| Synonyms |
MOR267-8, Olfr418, Olfr1403, GA_x6K02T2P20D-20826777-20827719, Olfr418-ps1, MOR267-12P, GA_x6K02T2R7CC-581296-580364 |
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173097714-173098704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173098480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059754]
[ENSMUST00000111224]
[ENSMUST00000213420]
|
| AlphaFold |
A0A140T8J6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059754
AA Change: V246A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.6e-55 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
5.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111224
|
| SMART Domains |
Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PTX
|
20 |
219 |
1.93e-94 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213420
AA Change: V246A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly damaging |
Het |
|
| Other mutations in Or10j2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Or10j2
|
APN |
1 |
173,098,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Or10j2
|
APN |
1 |
173,098,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01930:Or10j2
|
APN |
1 |
173,098,177 (GRCm39) |
missense |
probably benign |
|
|
IGL01963:Or10j2
|
APN |
1 |
173,097,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02104:Or10j2
|
APN |
1 |
173,098,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02192:Or10j2
|
APN |
1 |
173,098,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02256:Or10j2
|
APN |
1 |
173,098,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02340:Or10j2
|
APN |
1 |
173,097,972 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02454:Or10j2
|
APN |
1 |
173,098,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02638:Or10j2
|
APN |
1 |
173,097,898 (GRCm39) |
missense |
probably benign |
0.07 |
|
FR4737:Or10j2
|
UTSW |
1 |
173,098,197 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Or10j2
|
UTSW |
1 |
173,098,197 (GRCm39) |
frame shift |
probably null |
|
|
R0552:Or10j2
|
UTSW |
1 |
173,098,372 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0621:Or10j2
|
UTSW |
1 |
173,098,242 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0735:Or10j2
|
UTSW |
1 |
173,098,569 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1506:Or10j2
|
UTSW |
1 |
173,098,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1670:Or10j2
|
UTSW |
1 |
173,098,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Or10j2
|
UTSW |
1 |
173,097,879 (GRCm39) |
missense |
probably benign |
|
|
R2204:Or10j2
|
UTSW |
1 |
173,097,703 (GRCm39) |
splice site |
probably null |
|
|
R4909:Or10j2
|
UTSW |
1 |
173,098,546 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5457:Or10j2
|
UTSW |
1 |
173,098,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6124:Or10j2
|
UTSW |
1 |
173,097,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6456:Or10j2
|
UTSW |
1 |
173,098,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Or10j2
|
UTSW |
1 |
173,097,811 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7240:Or10j2
|
UTSW |
1 |
173,098,561 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7672:Or10j2
|
UTSW |
1 |
173,098,440 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8073:Or10j2
|
UTSW |
1 |
173,098,552 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8116:Or10j2
|
UTSW |
1 |
173,098,047 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8982:Or10j2
|
UTSW |
1 |
173,098,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Or10j2
|
UTSW |
1 |
173,098,147 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9668:Or10j2
|
UTSW |
1 |
173,098,183 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF032:Or10j2
|
UTSW |
1 |
173,098,276 (GRCm39) |
frame shift |
probably null |
|
|
RF036:Or10j2
|
UTSW |
1 |
173,098,276 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Or10j2
|
UTSW |
1 |
173,098,276 (GRCm39) |
frame shift |
probably null |
|
|
X0019:Or10j2
|
UTSW |
1 |
173,098,124 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGATACCACTCTGCATGAC -3'
(R):5'- GAATCCACTGTACACCAAGCTG -3'
Sequencing Primer
(F):5'- TACCACTCTGCATGACATAGTTAAC -3'
(R):5'- TGCCATGTATCCTAGGCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation