Incidental Mutation 'R6721:Ogfr'
| ID |
529573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogfr
|
| Ensembl Gene |
ENSMUSG00000049401 |
| Gene Name |
opioid growth factor receptor |
| Synonyms |
2010013E17Rik |
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.623)
|
| Stock # |
R6721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180231200-180237630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180237221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 602
(L602Q)
|
| 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: L602Q
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: L602Q
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
| Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
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 |
|
|
IGL03297:Ogfr
|
APN |
2 |
180,236,200 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCCTGAGTCCCAAAAGG -3'
(R):5'- TCAGTGACCACTAGGGAGAG -3'
Sequencing Primer
(F):5'- GACCCCAAAAGCCAGGTGG -3'
(R):5'- AGAGGCCAGCACTGTGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation