Incidental Mutation 'PIT4812001:Ogfr'
ID 556900
Institutional Source Beutler Lab
Gene Symbol Ogfr
Ensembl Gene ENSMUSG00000049401
Gene Name opioid growth factor receptor
Synonyms 2010013E17Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # PIT4812001 (G1)
Quality Score 95.0077
Status Not validated
Chromosome 2
Chromosomal Location 180231200-180237630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180237304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 630 (P630S)
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: P630S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: P630S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 93.8%
  • 3x: 91.0%
  • 10x: 85.3%
  • 20x: 73.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,630,053 (GRCm39) S252P possibly damaging Het
4933409G03Rik G A 2: 68,419,292 (GRCm39) V14I probably benign Het
Adgrf5 T G 17: 43,761,260 (GRCm39) V985G probably damaging Het
Ankrd44 A T 1: 54,762,197 (GRCm39) Y542* probably null Het
Atp13a3 T C 16: 30,181,396 (GRCm39) T75A probably damaging Het
Atr T C 9: 95,792,702 (GRCm39) F1675L probably benign Het
Atrnl1 A G 19: 57,720,055 (GRCm39) I1082V probably benign Het
Clip1 T A 5: 123,768,738 (GRCm39) R620S probably benign Het
Cped1 T C 6: 22,122,293 (GRCm39) F391S probably benign Het
Cracr2a T C 6: 127,602,833 (GRCm39) L230P probably damaging Het
Dctn1 T A 6: 83,176,744 (GRCm39) V1266E possibly damaging Het
Dlg1 T A 16: 31,665,703 (GRCm39) F687I probably benign Het
Dnah8 C A 17: 30,927,419 (GRCm39) D1358E probably benign Het
Dnajc11 A G 4: 152,037,346 (GRCm39) R84G probably benign Het
Dnajc14 C A 10: 128,642,552 (GRCm39) T158N probably damaging Het
Dscc1 A G 15: 54,945,657 (GRCm39) L346P probably damaging Het
Efcab3 A G 11: 104,990,805 (GRCm39) I71V probably null Het
Erbb3 T A 10: 128,410,248 (GRCm39) Q670L possibly damaging Het
Ercc4 G A 16: 12,962,311 (GRCm39) E652K probably benign Het
Ercc6l2 T A 13: 64,006,071 (GRCm39) V591D possibly damaging Het
Fam3c C T 6: 22,321,369 (GRCm39) G134E probably damaging Het
Frmd5 A G 2: 121,416,927 (GRCm39) V70A probably benign Het
Gjd3 A T 11: 102,691,807 (GRCm39) Y65* probably null Het
Gm3033 A C 14: 3,848,891 (GRCm38) L137F Het
Gria4 C A 9: 4,427,128 (GRCm39) A771S probably damaging Het
Hc A G 2: 34,919,464 (GRCm39) L674P probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hycc2 T G 1: 58,587,862 (GRCm39) D117A possibly damaging Het
Inpp5f A T 7: 128,294,032 (GRCm39) Y696F probably benign Het
Itga11 C A 9: 62,639,475 (GRCm39) Q157K probably damaging Het
Itgb5 G T 16: 33,740,357 (GRCm39) C489F probably damaging Het
Klhl38 C T 15: 58,185,938 (GRCm39) G264S probably benign Het
Krt78 C T 15: 101,856,504 (GRCm39) V436M probably damaging Het
Mia2 A T 12: 59,148,365 (GRCm39) D75V possibly damaging Het
Mphosph6 T A 8: 118,525,888 (GRCm39) Q20L probably damaging Het
Or2c1 A T 16: 3,657,394 (GRCm39) K186* probably null Het
Or4c11 G A 2: 88,695,314 (GRCm39) V122M probably benign Het
Or5an9 T G 19: 12,187,617 (GRCm39) I229S probably damaging Het
Pbx3 T C 2: 34,114,631 (GRCm39) E101G probably damaging Het
Pcca T A 14: 123,027,794 (GRCm39) N587K probably benign Het
Pdia3 G T 2: 121,264,011 (GRCm39) A287S probably damaging Het
Pfas T A 11: 68,880,862 (GRCm39) D209V Het
Pramel29 A G 4: 143,936,086 (GRCm39) I56T probably benign Het
Pter A T 2: 12,985,179 (GRCm39) I170F probably damaging Het
Ptprq A T 10: 107,502,428 (GRCm39) V830E probably damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Rbm19 T C 5: 120,266,315 (GRCm39) V446A possibly damaging Het
Selp A G 1: 163,959,832 (GRCm39) N363D probably benign Het
Six2 C A 17: 85,992,729 (GRCm39) S258I possibly damaging Het
Smc1b A G 15: 84,953,852 (GRCm39) V1139A possibly damaging Het
Sp1 A G 15: 102,316,843 (GRCm39) T121A possibly damaging Het
Sucla2 A T 14: 73,816,889 (GRCm39) I210L possibly damaging Het
Trank1 T C 9: 111,176,980 (GRCm39) L339P probably damaging Het
Ttll5 T A 12: 85,973,635 (GRCm39) D794E probably benign Het
Usp32 C T 11: 84,900,900 (GRCm39) V1107I probably damaging Het
Vmn1r195 T C 13: 22,463,033 (GRCm39) Y168H probably benign Het
Vmn1r223 A G 13: 23,434,060 (GRCm39) N218S probably damaging Het
Vmn2r25 T A 6: 123,800,447 (GRCm39) S632C probably damaging Het
Vwa3a A T 7: 120,375,356 (GRCm39) K390I probably damaging Het
Zfp442 A T 2: 150,251,661 (GRCm39) C80* probably null Het
Zic1 A T 9: 91,246,394 (GRCm39) I226N probably damaging Het
Other mutations in Ogfr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GTGTCCTGAGTCCCAAAAGG -3'
(R):5'- CAGTGAGGTAAGGAGGCTTCTG -3'

Sequencing Primer
(F):5'- CCCCAAAAGCCAGGTGGAG -3'
(R):5'- GCTTCTGAAGGCCTTGGC -3'
Posted On 2019-06-07