Incidental Mutation 'R2365:Or52e19'
ID |
246294 |
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 |
040346-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R2365 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
102958930-102959868 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102959380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 151
(I151L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104880]
[ENSMUST00000214577]
|
AlphaFold |
F8VQ26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000104880
AA Change: I151L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000100475 Gene: ENSMUSG00000073953 AA Change: I151L
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 |
probably benign
Transcript: ENSMUST00000214577
AA Change: I151L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
94% (34/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
T |
A |
16: 29,070,008 (GRCm39) |
K959N |
probably benign |
Het |
C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
T |
G |
13: 54,865,901 (GRCm39) |
S268R |
probably benign |
Het |
Erc1 |
A |
G |
6: 119,552,656 (GRCm39) |
L1094P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,034,568 (GRCm39) |
H2740R |
probably benign |
Het |
Galnt13 |
A |
G |
2: 54,744,709 (GRCm39) |
Y136C |
possibly damaging |
Het |
Gipc2 |
A |
G |
3: 151,833,831 (GRCm39) |
I150T |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm21957 |
T |
C |
7: 124,818,629 (GRCm39) |
|
noncoding transcript |
Het |
Gm5591 |
T |
A |
7: 38,218,825 (GRCm39) |
R683W |
probably damaging |
Het |
Gm826 |
A |
G |
2: 160,169,130 (GRCm39) |
S60P |
unknown |
Het |
Hsd17b7 |
T |
C |
1: 169,792,009 (GRCm39) |
D133G |
probably damaging |
Het |
Kera |
A |
G |
10: 97,444,805 (GRCm39) |
T55A |
probably benign |
Het |
Mff |
T |
C |
1: 82,713,192 (GRCm39) |
V129A |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,147,384 (GRCm39) |
L53P |
probably damaging |
Het |
Neo1 |
A |
G |
9: 58,863,286 (GRCm39) |
V427A |
probably benign |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Pfkfb3 |
C |
T |
2: 11,498,713 (GRCm39) |
|
probably null |
Het |
Pom121l2 |
A |
G |
13: 22,167,954 (GRCm39) |
T742A |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,171,746 (GRCm39) |
S302P |
probably damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Sall3 |
G |
C |
18: 81,015,007 (GRCm39) |
P974A |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,578,798 (GRCm39) |
|
probably null |
Het |
Slc22a6 |
A |
G |
19: 8,596,761 (GRCm39) |
T180A |
probably benign |
Het |
Slc40a1 |
T |
C |
1: 45,963,873 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,596,284 (GRCm39) |
S585P |
possibly damaging |
Het |
Tbpl1 |
A |
G |
10: 22,581,785 (GRCm39) |
V164A |
possibly damaging |
Het |
Tmem98 |
A |
T |
11: 80,706,511 (GRCm39) |
I95F |
probably damaging |
Het |
Ush2a |
C |
A |
1: 188,111,188 (GRCm39) |
P571T |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,234,428 (GRCm39) |
N1125D |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,813,894 (GRCm39) |
|
probably benign |
Het |
Zbtb18 |
A |
T |
1: 177,275,723 (GRCm39) |
E361V |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,317,168 (GRCm39) |
F144S |
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 |
R0908:Or52e19
|
UTSW |
7 |
102,959,780 (GRCm39) |
missense |
possibly damaging |
0.56 |
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 |
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'- ATAAGCTTTGAAGGCTGCCTC -3'
(R):5'- AAACAGCCTGTAGGATCCAAGC -3'
Sequencing Primer
(F):5'- TTGAAGGCTGCCTCATCCAAATG -3'
(R):5'- CCTGTAGGATCCAAGCATAGG -3'
|
Posted On |
2014-10-30 |