Incidental Mutation 'R0908:Or52e19'
ID |
83391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or52e19
|
Ensembl Gene |
ENSMUSG00000073953 |
Gene Name |
olfactory receptor family 52 subfamily E member 19 |
Synonyms |
Gm15117, ENSMUSG00000073953, Olfr596-ps1, Olfr596, GA_x6K02T2PBJ9-6019769-6019943 |
MMRRC Submission |
039066-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0908 (G1)
|
Quality Score |
107 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
102958930-102959868 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102959780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 284
(V284A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104880]
[ENSMUST00000214577]
|
AlphaFold |
F8VQ26 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000104880
AA Change: V284A
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000100475 Gene: ENSMUSG00000073953 AA Change: V284A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
311 |
1.5e-121 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
210 |
5.1e-11 |
PFAM |
Pfam:7tm_1
|
43 |
293 |
1.6e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214577
AA Change: V284A
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably damaging |
Het |
|
Other mutations in Or52e19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00814:Or52e19
|
APN |
7 |
102,959,014 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01917:Or52e19
|
APN |
7 |
102,959,564 (GRCm39) |
nonsense |
probably null |
|
G1patch:Or52e19
|
UTSW |
7 |
102,959,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Or52e19
|
UTSW |
7 |
102,959,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R1762:Or52e19
|
UTSW |
7 |
102,959,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Or52e19
|
UTSW |
7 |
102,959,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1806:Or52e19
|
UTSW |
7 |
102,959,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2035:Or52e19
|
UTSW |
7 |
102,959,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Or52e19
|
UTSW |
7 |
102,959,380 (GRCm39) |
missense |
probably benign |
0.00 |
R3827:Or52e19
|
UTSW |
7 |
102,959,009 (GRCm39) |
missense |
probably benign |
0.12 |
R4241:Or52e19
|
UTSW |
7 |
102,959,868 (GRCm39) |
makesense |
probably null |
|
R4619:Or52e19
|
UTSW |
7 |
102,959,165 (GRCm39) |
missense |
probably benign |
0.04 |
R4620:Or52e19
|
UTSW |
7 |
102,959,165 (GRCm39) |
missense |
probably benign |
0.04 |
R6279:Or52e19
|
UTSW |
7 |
102,959,636 (GRCm39) |
missense |
probably benign |
|
R6300:Or52e19
|
UTSW |
7 |
102,959,636 (GRCm39) |
missense |
probably benign |
|
R6505:Or52e19
|
UTSW |
7 |
102,959,000 (GRCm39) |
missense |
probably benign |
0.00 |
R6725:Or52e19
|
UTSW |
7 |
102,959,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7175:Or52e19
|
UTSW |
7 |
102,959,054 (GRCm39) |
missense |
probably benign |
0.22 |
R7708:Or52e19
|
UTSW |
7 |
102,959,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R8855:Or52e19
|
UTSW |
7 |
102,959,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9035:Or52e19
|
UTSW |
7 |
102,959,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9162:Or52e19
|
UTSW |
7 |
102,958,927 (GRCm39) |
start gained |
probably benign |
|
R9489:Or52e19
|
UTSW |
7 |
102,959,452 (GRCm39) |
missense |
probably benign |
0.00 |
R9799:Or52e19
|
UTSW |
7 |
102,959,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACGCCTGCCCTTTTGTGGAC -3'
(R):5'- TACTGGCTGAGGCACAGGGATG -3'
Sequencing Primer
(F):5'- CGTCTAGCCTGTGCTAACATAAG -3'
(R):5'- GGATGCCCCCTTGATCTAGTTG -3'
|
Posted On |
2013-11-08 |