Incidental Mutation 'R4320:Or12j2'
| ID |
323776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12j2
|
| Ensembl Gene |
ENSMUSG00000062782 |
| Gene Name |
olfactory receptor family 12 subfamily J member 2 |
| Synonyms |
Olfr527, MOR251-5, GA_x6K02T2PBJ9-42486061-42486978 |
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139915777-139916694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139916219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 148
(I148N)
|
| 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: I148N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129414
Gene: ENSMUSG00000062782
AA Change: I148N
| 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 |
possibly damaging
Transcript: ENSMUST00000214143
AA Change: I148N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214858
AA Change: I148N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or12j2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02818:Or12j2
|
APN |
7 |
139,916,519 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGACAGCATGATGACAG -3'
(R):5'- AGGATTGTCACAGAGAAGTTCCC -3'
Sequencing Primer
(F):5'- TGATGACAGGAAGGACCATCTCTTAC -3'
(R):5'- GATTGTCACAGAGAAGTTCCCTACAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation