Incidental Mutation 'R2328:Or10d5j'
| ID |
245761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10d5j
|
| Ensembl Gene |
ENSMUSG00000047352 |
| Gene Name |
olfactory receptor family 10 subfamily D member 5J |
| Synonyms |
GA_x6K02T2PVTD-33657378-33656440, Olfr976, MOR224-10 |
| MMRRC Submission |
040319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2328 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39865553-39872340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39868196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 24
(F24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169307]
[ENSMUST00000213171]
[ENSMUST00000216647]
[ENSMUST00000217360]
[ENSMUST00000217630]
|
| AlphaFold |
Q8VF15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169307
AA Change: F24L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352
AA Change: F24L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
43 |
318 |
1.5e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
47 |
271 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
53 |
300 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213171
AA Change: F12L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216647
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217360
AA Change: F12L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217630
AA Change: F12L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,182,502 (GRCm39) |
Y322F |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,167,347 (GRCm39) |
T1490A |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,735,870 (GRCm39) |
V264A |
possibly damaging |
Het |
| Cggbp1 |
A |
G |
16: 64,676,366 (GRCm39) |
D144G |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,408,891 (GRCm39) |
G1352* |
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,544,739 (GRCm39) |
M457K |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,451 (GRCm39) |
N230S |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,055,742 (GRCm39) |
V72A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,850,421 (GRCm39) |
S4218P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,013,718 (GRCm39) |
I3820F |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,419,562 (GRCm39) |
C186Y |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,660 (GRCm39) |
I178T |
probably damaging |
Het |
| Gpc5 |
C |
T |
14: 116,025,591 (GRCm39) |
R470W |
probably damaging |
Het |
| Hace1 |
G |
T |
10: 45,525,041 (GRCm39) |
R269L |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,058,010 (GRCm39) |
K73* |
probably null |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,487,353 (GRCm39) |
I504V |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,911 (GRCm39) |
C93S |
probably damaging |
Het |
| Setx |
TGTGG |
T |
2: 29,044,072 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slamf6 |
G |
A |
1: 171,761,818 (GRCm39) |
V80I |
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,353,514 (GRCm39) |
Y184* |
probably null |
Het |
| Spg21 |
T |
C |
9: 65,394,155 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,279 (GRCm39) |
T59S |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,845,086 (GRCm39) |
*139C |
probably null |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,495 (GRCm39) |
V13A |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,986 (GRCm39) |
E47G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,122 (GRCm39) |
D86G |
possibly damaging |
Het |
|
| Other mutations in Or10d5j |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Or10d5j
|
APN |
9 |
39,867,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Or10d5j
|
APN |
9 |
39,868,198 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1191:Or10d5j
|
UTSW |
9 |
39,868,264 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R1962:Or10d5j
|
UTSW |
9 |
39,867,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3847:Or10d5j
|
UTSW |
9 |
39,867,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Or10d5j
|
UTSW |
9 |
39,867,629 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4620:Or10d5j
|
UTSW |
9 |
39,868,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Or10d5j
|
UTSW |
9 |
39,868,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5163:Or10d5j
|
UTSW |
9 |
39,868,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Or10d5j
|
UTSW |
9 |
39,868,125 (GRCm39) |
nonsense |
probably null |
|
|
R5709:Or10d5j
|
UTSW |
9 |
39,867,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7028:Or10d5j
|
UTSW |
9 |
39,867,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Or10d5j
|
UTSW |
9 |
39,867,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Or10d5j
|
UTSW |
9 |
39,867,920 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8308:Or10d5j
|
UTSW |
9 |
39,868,265 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R9193:Or10d5j
|
UTSW |
9 |
39,867,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGTACTAGGTAGTCCATCATC -3'
(R):5'- CAAGGGCAGATTCATTCCTGG -3'
Sequencing Primer
(F):5'- CGTACTAGGTAGTCCATCATCTTAGG -3'
(R):5'- GGCAGATTCATTCCTGGTTCCTTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation