Incidental Mutation 'R5351:Or8j3c'
| ID |
423788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8j3c
|
| Ensembl Gene |
ENSMUSG00000090059 |
| Gene Name |
olfactory receptor family 8 subfamily J member 3C |
| Synonyms |
GA_x6K02T2Q125-47892992-47892045, Olfr1062, MOR185-1 |
| MMRRC Submission |
042930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
86253063-86254018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86253610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 137
(S137P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105213]
[ENSMUST00000217481]
|
| AlphaFold |
Q7TR71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105213
AA Change: S137P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100848
Gene: ENSMUSG00000090059
AA Change: S137P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.8e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216166
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217481
AA Change: S137P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
| Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
| Cnot8 |
T |
A |
11: 58,006,147 (GRCm39) |
H225Q |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
| Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
| Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
| Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
probably benign |
Het |
|
| Other mutations in Or8j3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02040:Or8j3c
|
APN |
2 |
86,253,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02638:Or8j3c
|
APN |
2 |
86,254,021 (GRCm39) |
splice site |
probably null |
|
|
IGL02863:Or8j3c
|
APN |
2 |
86,253,457 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0211:Or8j3c
|
UTSW |
2 |
86,253,451 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0211:Or8j3c
|
UTSW |
2 |
86,253,451 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1486:Or8j3c
|
UTSW |
2 |
86,253,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2327:Or8j3c
|
UTSW |
2 |
86,253,165 (GRCm39) |
nonsense |
probably null |
|
|
R3695:Or8j3c
|
UTSW |
2 |
86,253,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3981:Or8j3c
|
UTSW |
2 |
86,253,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4156:Or8j3c
|
UTSW |
2 |
86,253,544 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4860:Or8j3c
|
UTSW |
2 |
86,253,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Or8j3c
|
UTSW |
2 |
86,253,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Or8j3c
|
UTSW |
2 |
86,253,805 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5566:Or8j3c
|
UTSW |
2 |
86,253,721 (GRCm39) |
nonsense |
probably null |
|
|
R5777:Or8j3c
|
UTSW |
2 |
86,253,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6628:Or8j3c
|
UTSW |
2 |
86,253,361 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7039:Or8j3c
|
UTSW |
2 |
86,253,177 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7159:Or8j3c
|
UTSW |
2 |
86,253,956 (GRCm39) |
splice site |
probably null |
|
|
R7236:Or8j3c
|
UTSW |
2 |
86,253,533 (GRCm39) |
nonsense |
probably null |
|
|
R7251:Or8j3c
|
UTSW |
2 |
86,253,940 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7575:Or8j3c
|
UTSW |
2 |
86,253,582 (GRCm39) |
missense |
probably benign |
|
|
R7840:Or8j3c
|
UTSW |
2 |
86,253,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8048:Or8j3c
|
UTSW |
2 |
86,253,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Or8j3c
|
UTSW |
2 |
86,253,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Or8j3c
|
UTSW |
2 |
86,253,975 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8672:Or8j3c
|
UTSW |
2 |
86,253,976 (GRCm39) |
missense |
probably benign |
|
|
R8871:Or8j3c
|
UTSW |
2 |
86,253,697 (GRCm39) |
missense |
probably benign |
|
|
R9244:Or8j3c
|
UTSW |
2 |
86,253,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9513:Or8j3c
|
UTSW |
2 |
86,253,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Or8j3c
|
UTSW |
2 |
86,253,466 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Or8j3c
|
UTSW |
2 |
86,253,718 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Or8j3c
|
UTSW |
2 |
86,253,756 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Or8j3c
|
UTSW |
2 |
86,253,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGTTTCTGGAAGGTGAGTG -3'
(R):5'- CTGGCGGTCATCAACTTTGG -3'
Sequencing Primer
(F):5'- TCTGGAAGGTGAGTGTCAGAGC -3'
(R):5'- GTCATTGCTCCTAAAATGCTGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation