Incidental Mutation 'IGL01917:Or52e19'
| ID |
179976 |
| 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 # |
IGL01917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102958930-102959868 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 102959564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 212
(L212*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104880]
[ENSMUST00000214577]
|
| AlphaFold |
F8VQ26 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000104880
AA Change: L212*
|
| SMART Domains |
Protein: ENSMUSP00000100475
Gene: ENSMUSG00000073953
AA Change: L212*
| 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 null
Transcript: ENSMUST00000214577
AA Change: L212*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
T |
13: 23,607,959 (GRCm39) |
M15K |
unknown |
Het |
| Adal |
A |
G |
2: 120,973,035 (GRCm39) |
S31G |
possibly damaging |
Het |
| C2cd5 |
T |
C |
6: 143,018,322 (GRCm39) |
Y300C |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,035,536 (GRCm39) |
V184E |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,879 (GRCm39) |
V924D |
possibly damaging |
Het |
| Fstl5 |
A |
T |
3: 76,615,153 (GRCm39) |
H738L |
probably damaging |
Het |
| Gimap4 |
T |
C |
6: 48,667,854 (GRCm39) |
M75T |
probably benign |
Het |
| Gm10238 |
A |
T |
15: 75,109,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,650,434 (GRCm39) |
Y307H |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,479,318 (GRCm39) |
L408P |
probably damaging |
Het |
| Lbx1 |
T |
A |
19: 45,222,652 (GRCm39) |
K124* |
probably null |
Het |
| Naip2 |
C |
A |
13: 100,298,591 (GRCm39) |
V482L |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,089,604 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,407,499 (GRCm39) |
S82R |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,624,284 (GRCm39) |
E71V |
probably benign |
Het |
| Prickle1 |
T |
C |
15: 93,401,408 (GRCm39) |
K359E |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,300,093 (GRCm39) |
V236A |
probably damaging |
Het |
| Serpinb3d |
T |
A |
1: 107,007,411 (GRCm39) |
T192S |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,278,708 (GRCm39) |
N219S |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
2014-05-07 |
Incidental Mutation