Incidental Mutation 'R4542:Or51e2'
| ID |
333578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51e2
|
| Ensembl Gene |
ENSMUSG00000043366 |
| Gene Name |
olfactory receptor family 51 subfamily E member 2 |
| Synonyms |
PSGR, MOL2.3, RA1c, MOR18-2, 4633402A21Rik, Olfr78, GA_x6K02T2PBJ9-5459657-5458695 |
| MMRRC Submission |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102389928-102408678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102391850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 120
(D120G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060187]
[ENSMUST00000168007]
[ENSMUST00000217123]
|
| AlphaFold |
Q8VBV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060187
AA Change: D120G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058085
Gene: ENSMUSG00000043366
AA Change: D120G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
309 |
1.9e-111 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
252 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
40 |
291 |
2.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168007
AA Change: D120G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133255
Gene: ENSMUSG00000043366
AA Change: D120G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
34 |
252 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
40 |
291 |
1.4e-25 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.8e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209365
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217123
AA Change: D120G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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]
PHENOTYPE: Targeted inactivation of this gene leads to alterations in olfactory sensory neuron development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,602,984 (GRCm39) |
V333E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,148 (GRCm39) |
F169S |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,103,826 (GRCm39) |
W920* |
probably null |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,860,095 (GRCm39) |
D374E |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,795,181 (GRCm39) |
Y223H |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,232 (GRCm39) |
K522E |
probably damaging |
Het |
|
| Other mutations in Or51e2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Or51e2
|
APN |
7 |
102,391,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:Or51e2
|
APN |
7 |
102,391,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Or51e2
|
APN |
7 |
102,391,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0415:Or51e2
|
UTSW |
7 |
102,391,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0781:Or51e2
|
UTSW |
7 |
102,392,214 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1676:Or51e2
|
UTSW |
7 |
102,391,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Or51e2
|
UTSW |
7 |
102,391,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Or51e2
|
UTSW |
7 |
102,391,581 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4671:Or51e2
|
UTSW |
7 |
102,391,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5400:Or51e2
|
UTSW |
7 |
102,391,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7015:Or51e2
|
UTSW |
7 |
102,391,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Or51e2
|
UTSW |
7 |
102,391,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Or51e2
|
UTSW |
7 |
102,391,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8259:Or51e2
|
UTSW |
7 |
102,392,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Or51e2
|
UTSW |
7 |
102,392,210 (GRCm39) |
start gained |
probably benign |
|
|
R9095:Or51e2
|
UTSW |
7 |
102,391,473 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCACATCCTGGTGGACAC -3'
(R):5'- TCTTCATAGTGAGAACAGAGCGG -3'
Sequencing Primer
(F):5'- TCACATCCTGGTGGACACAATAGG -3'
(R):5'- ATGTACCTTTTTCTCTGCATGCTGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation