Incidental Mutation 'IGL00814:Or52e19'
| ID |
12852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102958930-102959868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102959014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 29
(I29L)
|
| 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: I29L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000100475
Gene: ENSMUSG00000073953
AA Change: I29L
| 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: I29L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cops6 |
G |
T |
5: 138,161,640 (GRCm39) |
R58L |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,470,894 (GRCm39) |
M262K |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Gria4 |
A |
T |
9: 4,472,202 (GRCm39) |
M429K |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,484 (GRCm39) |
R262W |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,844,389 (GRCm39) |
I143K |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,834,666 (GRCm39) |
S615T |
possibly damaging |
Het |
| Nlrp9c |
C |
T |
7: 26,084,175 (GRCm39) |
S468N |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,886,087 (GRCm39) |
D212E |
probably benign |
Het |
| Pck2 |
T |
C |
14: 55,785,756 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,516,721 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,473,624 (GRCm39) |
T110A |
probably benign |
Het |
| Psg23 |
C |
T |
7: 18,348,608 (GRCm39) |
W66* |
probably null |
Het |
| Rnf144b |
T |
C |
13: 47,373,964 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
A |
11: 104,077,805 (GRCm39) |
G202S |
possibly damaging |
Het |
| Thnsl2 |
A |
C |
6: 71,116,867 (GRCm39) |
L95R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,637,511 (GRCm39) |
V12248A |
probably benign |
Het |
|
| Other mutations in Or52e19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation