Incidental Mutation 'R5988:Ogfr'
ID 481796
Institutional Source Beutler Lab
Gene Symbol Ogfr
Ensembl Gene ENSMUSG00000049401
Gene Name opioid growth factor receptor
Synonyms 2010013E17Rik
MMRRC Submission 044168-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R5988 (G1)
Quality Score 213.009
Status Not validated
Chromosome 2
Chromosomal Location 180231200-180237630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180236026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 204 (T204S)
Ref Sequence ENSEMBL: ENSMUSP00000029087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029087] [ENSMUST00000103059] [ENSMUST00000132527]
AlphaFold Q99PG2
Predicted Effect probably damaging
Transcript: ENSMUST00000029087
AA Change: T204S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401
AA Change: T204S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147070
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 84.3%
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,715,030 (GRCm39) M615K possibly damaging Het
Acvr1c A T 2: 58,205,886 (GRCm39) C25S probably damaging Het
Adk A T 14: 21,473,616 (GRCm39) E291V probably benign Het
Ahnak C A 19: 8,986,711 (GRCm39) probably benign Het
Alg11 A G 8: 22,552,044 (GRCm39) T63A probably benign Het
Alox12 A T 11: 70,142,413 (GRCm39) S272T probably benign Het
Armc10 T A 5: 21,865,581 (GRCm39) S195T probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Baat G A 4: 49,502,871 (GRCm39) P84S probably damaging Het
BB014433 G A 8: 15,091,854 (GRCm39) T333I probably damaging Het
BC035947 G A 1: 78,475,843 (GRCm39) R230* probably null Het
Bcr G A 10: 75,011,167 (GRCm39) G26E probably benign Het
Ccdc88b T C 19: 6,833,348 (GRCm39) E233G probably damaging Het
Cep295 A G 9: 15,252,770 (GRCm39) F353L probably damaging Het
Chd8 T C 14: 52,455,395 (GRCm39) M1031V probably damaging Het
Col17a1 C G 19: 47,642,659 (GRCm39) G885R probably damaging Het
Cyp11a1 A C 9: 57,928,117 (GRCm39) I214L probably benign Het
Cyp3a44 A T 5: 145,731,728 (GRCm39) S139R probably damaging Het
Ddhd2 G A 8: 26,238,589 (GRCm39) R64C probably damaging Het
Dll3 A G 7: 27,993,537 (GRCm39) W561R probably damaging Het
Dnajc3 T C 14: 119,195,376 (GRCm39) V97A possibly damaging Het
Drosha C T 15: 12,834,582 (GRCm39) probably benign Het
E2f8 T C 7: 48,524,743 (GRCm39) D302G probably damaging Het
Ecd C G 14: 20,374,629 (GRCm39) D504H probably damaging Het
Eif1ad15 T A 12: 88,288,202 (GRCm39) N17I unknown Het
Eif4g2 C A 7: 110,676,437 (GRCm39) V331L probably benign Het
Fam124a T C 14: 62,824,986 (GRCm39) I160T possibly damaging Het
Fat1 A G 8: 45,482,493 (GRCm39) T3051A probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm572 A G 4: 148,752,964 (GRCm39) E281G possibly damaging Het
Gm9944 T C 4: 144,179,775 (GRCm39) probably benign Het
Gstm5 A C 3: 107,803,270 (GRCm39) M1L probably benign Het
Havcr1 A G 11: 46,646,964 (GRCm39) T133A probably damaging Het
Hey1 T G 3: 8,731,379 (GRCm39) S68R probably damaging Het
Hsf2bp C T 17: 32,230,149 (GRCm39) probably null Het
Id2 T C 12: 25,145,723 (GRCm39) N96S probably benign Het
Ifi206 A C 1: 173,308,906 (GRCm39) S363R possibly damaging Het
Il21r T C 7: 125,231,460 (GRCm39) F296S probably damaging Het
Irgm2 A G 11: 58,111,013 (GRCm39) T247A probably benign Het
Irx5 T A 8: 93,087,299 (GRCm39) Y410* probably null Het
Kmt2c A G 5: 25,516,118 (GRCm39) I2575T probably benign Het
Lmbrd2 T A 15: 9,182,493 (GRCm39) probably null Het
Lrig1 A C 6: 94,605,023 (GRCm39) S191A probably damaging Het
Lrrc37 T C 11: 103,506,722 (GRCm39) probably benign Het
Lypd6b T A 2: 49,836,178 (GRCm39) C120S probably damaging Het
Mpdz A G 4: 81,202,812 (GRCm39) probably null Het
Myh6 G T 14: 55,202,851 (GRCm39) R23S probably damaging Het
Nat8f6 C T 6: 85,786,040 (GRCm39) M36I probably benign Het
Nol8 T A 13: 49,826,090 (GRCm39) M970K possibly damaging Het
Nrxn2 T C 19: 6,542,901 (GRCm39) F1042L possibly damaging Het
Nup160 T C 2: 90,519,553 (GRCm39) W277R probably damaging Het
Or10j5 T A 1: 172,784,723 (GRCm39) Y120* probably null Het
Or1ak2 A G 2: 36,827,236 (GRCm39) Y35C probably damaging Het
Or1p1 T C 11: 74,179,679 (GRCm39) V69A probably benign Het
Or2n1d T C 17: 38,646,911 (GRCm39) F288L probably damaging Het
Or52n2b A T 7: 104,566,125 (GRCm39) V126E probably damaging Het
Or8c20 T C 9: 38,261,045 (GRCm39) V222A probably benign Het
Pcdh15 A G 10: 74,215,189 (GRCm39) I648V probably benign Het
Pced1b T A 15: 97,282,228 (GRCm39) V89E probably damaging Het
Phax G T 18: 56,708,564 (GRCm39) A43S probably benign Het
Phf20 A G 2: 156,149,250 (GRCm39) E976G probably damaging Het
Plin4 T C 17: 56,416,567 (GRCm39) T8A probably benign Het
Plxna1 G A 6: 89,334,522 (GRCm39) Q36* probably null Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Ppp1r26 T A 2: 28,342,566 (GRCm39) V732E probably benign Het
Pramel5 A T 4: 143,999,716 (GRCm39) C124S possibly damaging Het
Prorp T A 12: 55,424,002 (GRCm39) M441K probably damaging Het
Prr14l C A 5: 32,988,195 (GRCm39) L433F probably damaging Het
Ptpn14 A G 1: 189,582,584 (GRCm39) Y477C probably damaging Het
Rcl1 T A 19: 29,099,167 (GRCm39) I154N probably damaging Het
Rfpl4 T C 7: 5,118,501 (GRCm39) Y23C probably damaging Het
Rims1 T C 1: 22,635,544 (GRCm39) K146E probably damaging Het
Rims2 A T 15: 39,155,577 (GRCm39) K126M probably damaging Het
Rpusd4 T A 9: 35,183,816 (GRCm39) probably null Het
Scn7a C T 2: 66,556,558 (GRCm39) W342* probably null Het
Sh3pxd2a A G 19: 47,353,077 (GRCm39) V128A probably benign Het
Slc15a5 T C 6: 138,020,529 (GRCm39) H268R probably benign Het
Slc22a3 T C 17: 12,652,782 (GRCm39) I321V possibly damaging Het
Slc7a6os A G 8: 106,928,965 (GRCm39) S231P probably benign Het
Smad5 T C 13: 56,883,798 (GRCm39) S395P probably damaging Het
Sorbs3 G A 14: 70,440,752 (GRCm39) T20I probably benign Het
Spata9 A G 13: 76,116,236 (GRCm39) I42V probably benign Het
Srl C T 16: 4,340,892 (GRCm39) C9Y unknown Het
Sugp2 T C 8: 70,695,875 (GRCm39) F283L probably benign Het
Syne2 T C 12: 75,976,191 (GRCm39) probably null Het
Taar6 A G 10: 23,861,154 (GRCm39) Y131H probably damaging Het
Tango2 T C 16: 18,120,554 (GRCm39) T137A probably damaging Het
Tas2r106 T A 6: 131,655,606 (GRCm39) I82L probably benign Het
Tbc1d32 T C 10: 55,964,433 (GRCm39) E922G probably damaging Het
Tgfb2 G T 1: 186,436,778 (GRCm39) P65Q probably benign Het
Tjp2 T G 19: 24,091,464 (GRCm39) I566L probably benign Het
Tnrc6a T A 7: 122,781,603 (GRCm39) N1424K probably damaging Het
Trim7 A T 11: 48,728,513 (GRCm39) M54L probably benign Het
Trpm1 T A 7: 63,876,553 (GRCm39) S535R probably benign Het
Tsc2 T A 17: 24,839,740 (GRCm39) N417I probably damaging Het
Ttn T C 2: 76,800,132 (GRCm39) R359G probably benign Het
Vim A G 2: 13,587,296 (GRCm39) T458A probably benign Het
Vps11 A T 9: 44,265,221 (GRCm39) S612R probably benign Het
Wdfy3 A G 5: 102,032,004 (GRCm39) S2273P probably benign Het
Wwox G T 8: 115,433,081 (GRCm39) R249L probably benign Het
Zbtb4 G T 11: 69,669,790 (GRCm39) G838C probably damaging Het
Zkscan3 A T 13: 21,580,461 (GRCm39) C76S probably damaging Het
Znrf3 C T 11: 5,231,776 (GRCm39) C483Y probably damaging Het
Zscan2 A G 7: 80,525,947 (GRCm39) K556R possibly 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
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
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'- TTGCAGATCCTGTCCACAG -3'
(R):5'- GGATATAGTCTGGGGCCTGAAC -3'

Sequencing Primer
(F):5'- TGTCCACAGGTCAAGGGTAC -3'
(R):5'- AGGCTTGAAGTGCTCCCAAG -3'
Posted On 2017-06-26