Incidental Mutation 'IGL03297:Ogfr'
| ID |
416137 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ogfr
|
| Ensembl Gene |
ENSMUSG00000049401 |
| Gene Name |
opioid growth factor receptor |
| Synonyms |
2010013E17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.526)
|
| Stock # |
IGL03297
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180231200-180237630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 180236200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 262
(H262N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029087]
[ENSMUST00000103059]
[ENSMUST00000132527]
|
| AlphaFold |
Q99PG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029087
AA Change: H262N
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: H262N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
40 |
N/A |
INTRINSIC |
|
Pfam:OGFr_N
|
76 |
283 |
2.3e-111 |
PFAM |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
459 |
483 |
4.08e-5 |
PROSPERO |
|
internal_repeat_1
|
576 |
600 |
4.08e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103059
|
| SMART Domains |
Protein: ENSMUSP00000099348
Gene: ENSMUSG00000027570
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
21 |
80 |
7.7e-12 |
PFAM |
|
Pfam:Collagen
|
58 |
114 |
4.2e-9 |
PFAM |
|
low complexity region
|
126 |
162 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
174 |
236 |
4.1e-12 |
PFAM |
|
Pfam:Collagen
|
213 |
292 |
8e-9 |
PFAM |
|
internal_repeat_1
|
315 |
366 |
1.58e-12 |
PROSPERO |
|
internal_repeat_2
|
360 |
382 |
2.94e-6 |
PROSPERO |
|
low complexity region
|
384 |
396 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
456 |
518 |
1.8e-11 |
PFAM |
|
Pfam:Collagen
|
545 |
606 |
3.8e-11 |
PFAM |
|
low complexity region
|
635 |
656 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132527
|
| SMART Domains |
Protein: ENSMUSP00000128718
Gene: ENSMUSG00000027570
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
21 |
80 |
7.9e-12 |
PFAM |
|
Pfam:Collagen
|
58 |
114 |
4.3e-9 |
PFAM |
|
Pfam:Collagen
|
109 |
166 |
4.5e-8 |
PFAM |
|
Pfam:Collagen
|
174 |
236 |
4.2e-12 |
PFAM |
|
Pfam:Collagen
|
213 |
292 |
8.2e-9 |
PFAM |
|
internal_repeat_1
|
315 |
366 |
1.58e-12 |
PROSPERO |
|
internal_repeat_2
|
360 |
382 |
2.94e-6 |
PROSPERO |
|
low complexity region
|
384 |
396 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
402 |
474 |
8.2e-8 |
PFAM |
|
Pfam:Collagen
|
456 |
518 |
1.8e-11 |
PFAM |
|
Pfam:Collagen
|
545 |
606 |
3.9e-11 |
PFAM |
|
Pfam:Collagen
|
603 |
662 |
2.5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147070
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,620,173 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
| Cd209d |
T |
C |
8: 3,928,476 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
| Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
| Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
| Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
| Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,378,138 (GRCm39) |
N509I |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,873,150 (GRCm39) |
D635A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
| Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
| Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,467,045 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
C |
T |
1: 191,086,959 (GRCm39) |
V360I |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
| Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
| Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
Het |
|
| Other mutations in Ogfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Ogfr
|
APN |
2 |
180,235,355 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02437:Ogfr
|
APN |
2 |
180,231,329 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02602:Ogfr
|
APN |
2 |
180,237,230 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02609:Ogfr
|
APN |
2 |
180,234,308 (GRCm39) |
splice site |
probably benign |
|
|
BB017:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4812001:Ogfr
|
UTSW |
2 |
180,237,304 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0085:Ogfr
|
UTSW |
2 |
180,232,830 (GRCm39) |
splice site |
probably null |
|
|
R0398:Ogfr
|
UTSW |
2 |
180,235,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1313:Ogfr
|
UTSW |
2 |
180,236,423 (GRCm39) |
missense |
probably benign |
|
|
R1313:Ogfr
|
UTSW |
2 |
180,236,423 (GRCm39) |
missense |
probably benign |
|
|
R1468:Ogfr
|
UTSW |
2 |
180,236,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Ogfr
|
UTSW |
2 |
180,236,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Ogfr
|
UTSW |
2 |
180,236,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4902:Ogfr
|
UTSW |
2 |
180,235,518 (GRCm39) |
unclassified |
probably benign |
|
|
R5422:Ogfr
|
UTSW |
2 |
180,237,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5422:Ogfr
|
UTSW |
2 |
180,237,067 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5860:Ogfr
|
UTSW |
2 |
180,234,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Ogfr
|
UTSW |
2 |
180,236,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6015:Ogfr
|
UTSW |
2 |
180,236,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6558:Ogfr
|
UTSW |
2 |
180,237,197 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6721:Ogfr
|
UTSW |
2 |
180,237,221 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7111:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7201:Ogfr
|
UTSW |
2 |
180,236,887 (GRCm39) |
unclassified |
probably benign |
|
|
R7217:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7243:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7387:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7563:Ogfr
|
UTSW |
2 |
180,234,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7681:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7844:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R7845:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7848:Ogfr
|
UTSW |
2 |
180,234,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R7985:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R8011:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8039:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8045:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R8094:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8339:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8464:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R8555:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8557:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8688:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R8703:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8856:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8886:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R8956:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R9098:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R9198:Ogfr
|
UTSW |
2 |
180,232,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9227:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R9244:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R9340:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R9352:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R9440:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R9462:Ogfr
|
UTSW |
2 |
180,236,850 (GRCm39) |
unclassified |
probably benign |
|
|
R9514:Ogfr
|
UTSW |
2 |
180,235,417 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9612:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
R9661:Ogfr
|
UTSW |
2 |
180,233,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
RF022:Ogfr
|
UTSW |
2 |
180,237,059 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation