Incidental Mutation 'R4244:Or2y3'
| ID |
320362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y3
|
| Ensembl Gene |
ENSMUSG00000043312 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 3 |
| Synonyms |
GA_x6K02T2PSCP-2531299-2530355, MOR256-4, Olfr131 |
| MMRRC Submission |
041060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38392923-38393867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38393321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 183
(V183I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059560]
[ENSMUST00000172933]
[ENSMUST00000215940]
[ENSMUST00000216523]
|
| AlphaFold |
Q8VGC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059560
AA Change: V183I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000061861
Gene: ENSMUSG00000043312
AA Change: V183I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
43 |
294 |
4e-35 |
PFAM |
|
Pfam:7tm_4
|
141 |
287 |
2.7e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172933
AA Change: V183I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134532
Gene: ENSMUSG00000043312
AA Change: V183I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
9.5e-57 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1.2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215940
AA Change: V183I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216523
AA Change: V183I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
| Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
| Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
| Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
| Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
| Mfsd2b |
G |
T |
12: 4,924,356 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,632 (GRCm39) |
T244A |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,741,296 (GRCm39) |
W38* |
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
| Sh3d21 |
C |
T |
4: 126,044,511 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
| Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
| Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or2y3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Or2y3
|
APN |
17 |
38,393,544 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01287:Or2y3
|
APN |
17 |
38,392,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Or2y3
|
APN |
17 |
38,392,994 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02833:Or2y3
|
APN |
17 |
38,393,243 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02927:Or2y3
|
APN |
17 |
38,393,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0662:Or2y3
|
UTSW |
17 |
38,393,824 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0755:Or2y3
|
UTSW |
17 |
38,393,085 (GRCm39) |
nonsense |
probably null |
|
|
R1526:Or2y3
|
UTSW |
17 |
38,393,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2155:Or2y3
|
UTSW |
17 |
38,393,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3123:Or2y3
|
UTSW |
17 |
38,392,903 (GRCm39) |
splice site |
probably null |
|
|
R3125:Or2y3
|
UTSW |
17 |
38,392,903 (GRCm39) |
splice site |
probably null |
|
|
R4135:Or2y3
|
UTSW |
17 |
38,393,248 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5104:Or2y3
|
UTSW |
17 |
38,393,174 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5182:Or2y3
|
UTSW |
17 |
38,393,005 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5293:Or2y3
|
UTSW |
17 |
38,393,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Or2y3
|
UTSW |
17 |
38,393,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5924:Or2y3
|
UTSW |
17 |
38,393,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6218:Or2y3
|
UTSW |
17 |
38,393,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6362:Or2y3
|
UTSW |
17 |
38,393,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6961:Or2y3
|
UTSW |
17 |
38,393,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7838:Or2y3
|
UTSW |
17 |
38,393,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Or2y3
|
UTSW |
17 |
38,393,452 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8730:Or2y3
|
UTSW |
17 |
38,392,925 (GRCm39) |
makesense |
probably null |
|
|
R9303:Or2y3
|
UTSW |
17 |
38,393,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Or2y3
|
UTSW |
17 |
38,393,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Or2y3
|
UTSW |
17 |
38,393,056 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9776:Or2y3
|
UTSW |
17 |
38,393,470 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACCCACATGTGTTAAAGGC -3'
(R):5'- AGAGTGTGTGCTTCTCTCCG -3'
Sequencing Primer
(F):5'- AAGGCCTTCTTTCGACCTTCAGAAG -3'
(R):5'- TGATCGCTATGTGGCCATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation