Incidental Mutation 'IGL02818:Or12j2'
| ID |
360889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or12j2
|
| Ensembl Gene |
ENSMUSG00000062782 |
| Gene Name |
olfactory receptor family 12 subfamily J member 2 |
| Synonyms |
Olfr527, MOR251-5, GA_x6K02T2PBJ9-42486061-42486978 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139915777-139916694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139916519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 248
(Y248F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172230]
[ENSMUST00000214143]
[ENSMUST00000214858]
|
| AlphaFold |
Q7TRT9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172230
AA Change: Y248F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: Y248F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
304 |
1.8e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
179 |
9.1e-8 |
PFAM |
|
Pfam:7tm_1
|
39 |
287 |
7.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211655
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214143
AA Change: Y248F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214858
AA Change: Y248F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,519,326 (GRCm39) |
F653S |
probably benign |
Het |
| Acsm2 |
A |
G |
7: 119,172,804 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,429,292 (GRCm39) |
H31Y |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,449,865 (GRCm39) |
S184R |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,919,245 (GRCm39) |
L619P |
probably damaging |
Het |
| Clec14a |
A |
T |
12: 58,314,888 (GRCm39) |
C245S |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,103,521 (GRCm39) |
C247R |
probably damaging |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,169,496 (GRCm39) |
S637P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,690,331 (GRCm39) |
I230K |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,329,968 (GRCm39) |
Y3271H |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,996,174 (GRCm39) |
I1129N |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,167,674 (GRCm39) |
A445S |
probably damaging |
Het |
| Gldc |
A |
G |
19: 30,113,909 (GRCm39) |
S498P |
probably damaging |
Het |
| Gm973 |
T |
C |
1: 59,580,634 (GRCm39) |
|
probably null |
Het |
| Hpdl |
T |
C |
4: 116,677,439 (GRCm39) |
I341V |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,463,078 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
A |
9: 110,314,217 (GRCm39) |
Y76N |
probably damaging |
Het |
| Lct |
T |
G |
1: 128,227,905 (GRCm39) |
E1196A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,392,132 (GRCm39) |
I1098V |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,601 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
C |
19: 18,618,623 (GRCm39) |
L102P |
probably damaging |
Het |
| Nudcd3 |
A |
T |
11: 6,100,635 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
A |
G |
11: 6,298,270 (GRCm39) |
T603A |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,488,128 (GRCm39) |
I225F |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,626 (GRCm39) |
Y542C |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,545,862 (GRCm39) |
W88R |
probably damaging |
Het |
| Ppp1r1b |
C |
T |
11: 98,242,096 (GRCm39) |
T21I |
possibly damaging |
Het |
| Srebf2 |
C |
A |
15: 82,069,575 (GRCm39) |
H706N |
probably damaging |
Het |
| Stradb |
T |
C |
1: 59,019,121 (GRCm39) |
V14A |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 159,943,848 (GRCm39) |
S988R |
possibly damaging |
Het |
| Trpm6 |
C |
A |
19: 18,843,621 (GRCm39) |
Q1662K |
probably benign |
Het |
| Utp3 |
T |
A |
5: 88,703,267 (GRCm39) |
Y265* |
probably null |
Het |
| Vwf |
A |
G |
6: 125,640,511 (GRCm39) |
T2316A |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,150,841 (GRCm39) |
F185L |
probably benign |
Het |
| Zwilch |
G |
A |
9: 64,057,509 (GRCm39) |
T395I |
probably damaging |
Het |
|
| Other mutations in Or12j2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02885:Or12j2
|
APN |
7 |
139,916,072 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1340:Or12j2
|
UTSW |
7 |
139,916,038 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1711:Or12j2
|
UTSW |
7 |
139,915,912 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1860:Or12j2
|
UTSW |
7 |
139,916,132 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2042:Or12j2
|
UTSW |
7 |
139,915,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Or12j2
|
UTSW |
7 |
139,916,566 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2128:Or12j2
|
UTSW |
7 |
139,916,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2347:Or12j2
|
UTSW |
7 |
139,916,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2449:Or12j2
|
UTSW |
7 |
139,916,345 (GRCm39) |
missense |
probably benign |
|
|
R2973:Or12j2
|
UTSW |
7 |
139,916,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Or12j2
|
UTSW |
7 |
139,916,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4320:Or12j2
|
UTSW |
7 |
139,916,219 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5561:Or12j2
|
UTSW |
7 |
139,916,065 (GRCm39) |
nonsense |
probably null |
|
|
R5566:Or12j2
|
UTSW |
7 |
139,915,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Or12j2
|
UTSW |
7 |
139,916,513 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7227:Or12j2
|
UTSW |
7 |
139,915,534 (GRCm39) |
start gained |
probably benign |
|
|
R7296:Or12j2
|
UTSW |
7 |
139,916,654 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7568:Or12j2
|
UTSW |
7 |
139,915,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8000:Or12j2
|
UTSW |
7 |
139,916,255 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8171:Or12j2
|
UTSW |
7 |
139,916,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Or12j2
|
UTSW |
7 |
139,915,939 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8351:Or12j2
|
UTSW |
7 |
139,916,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8451:Or12j2
|
UTSW |
7 |
139,916,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation