Incidental Mutation 'R3899:Osgep'
ID 308898
Institutional Source Beutler Lab
Gene Symbol Osgep
Ensembl Gene ENSMUSG00000006289
Gene Name O-sialoglycoprotein endopeptidase
Synonyms PRSMG1, 1500019L24Rik, GCPL-1
MMRRC Submission 040809-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3899 (G1)
Quality Score 124
Status Validated
Chromosome 14
Chromosomal Location 51152831-51162350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 51162200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 12 (N12K)
Ref Sequence ENSEMBL: ENSMUSP00000125155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000049312] [ENSMUST00000049411] [ENSMUST00000128395] [ENSMUST00000136753] [ENSMUST00000154288] [ENSMUST00000159292] [ENSMUST00000160393] [ENSMUST00000160890] [ENSMUST00000160835] [ENSMUST00000160538] [ENSMUST00000162177] [ENSMUST00000160375] [ENSMUST00000161166] [ENSMUST00000162957]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000006452
AA Change: N12K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289
AA Change: N12K

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 186 1.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049312
SMART Domains Protein: ENSMUSP00000038276
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 270 9.8e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049411
SMART Domains Protein: ENSMUSP00000042602
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 308 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128395
SMART Domains Protein: ENSMUSP00000116319
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 9 35 N/A INTRINSIC
Pfam:Exo_endo_phos 59 280 2.3e-24 PFAM
Pfam:Exo_endo_phos_2 138 284 4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136753
SMART Domains Protein: ENSMUSP00000123148
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 177 3.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154288
SMART Domains Protein: ENSMUSP00000122343
Gene: ENSMUSG00000035960

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:Exo_endo_phos 64 214 1.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159292
AA Change: N12K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289
AA Change: N12K

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160464
Predicted Effect probably damaging
Transcript: ENSMUST00000160393
AA Change: N12K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289
AA Change: N12K

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160890
AA Change: N12K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289
AA Change: N12K

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 79 1.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159745
Predicted Effect probably benign
Transcript: ENSMUST00000160835
SMART Domains Protein: ENSMUSP00000124782
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 4 277 2.8e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161669
Predicted Effect probably benign
Transcript: ENSMUST00000160538
SMART Domains Protein: ENSMUSP00000124259
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 197 1.9e-82 PFAM
low complexity region 221 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162177
SMART Domains Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 220 1.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160375
SMART Domains Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 156 1.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161166
SMART Domains Protein: ENSMUSP00000125414
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 168 3.6e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162935
Predicted Effect probably benign
Transcript: ENSMUST00000162957
SMART Domains Protein: ENSMUSP00000123697
Gene: ENSMUSG00000035953

DomainStartEndE-ValueType
Pfam:Tmemb_55A 1 174 2.9e-64 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,399,157 (GRCm39) probably benign Het
Ahctf1 A G 1: 179,605,345 (GRCm39) S730P possibly damaging Het
Ankrd26 T A 6: 118,526,389 (GRCm39) R327S probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apob A T 12: 8,065,849 (GRCm39) I4273F possibly damaging Het
Ascl1 G T 10: 87,328,435 (GRCm39) H172Q probably benign Het
Azi2 A G 9: 117,876,571 (GRCm39) Y29C probably damaging Het
Baz1a A G 12: 54,981,589 (GRCm39) M355T probably benign Het
Brs3 G A X: 56,092,616 (GRCm39) V367M possibly damaging Het
Ccdc33 T C 9: 57,940,200 (GRCm39) D524G probably damaging Het
Cd300lf T C 11: 115,015,177 (GRCm39) T138A probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Ces1g T C 8: 94,029,678 (GRCm39) Y518C probably damaging Het
Chek2 C T 5: 111,013,479 (GRCm39) probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cntnap2 A T 6: 45,968,837 (GRCm39) H193L probably benign Het
Crim1 C A 17: 78,588,783 (GRCm39) T286N probably benign Het
Cwc27 T A 13: 104,929,023 (GRCm39) K307* probably null Het
Dbx2 T C 15: 95,530,313 (GRCm39) D218G possibly damaging Het
Dclk1 G A 3: 55,154,750 (GRCm39) R60Q probably damaging Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dpp10 A T 1: 123,281,286 (GRCm39) W588R probably damaging Het
Epg5 G A 18: 78,000,725 (GRCm39) E554K probably damaging Het
Eya1 T C 1: 14,340,971 (GRCm39) T139A probably benign Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Foxd3 A G 4: 99,545,736 (GRCm39) Y292C unknown Het
Gli1 C T 10: 127,172,535 (GRCm39) M202I possibly damaging Het
Gm973 T C 1: 59,664,299 (GRCm39) Y634H probably benign Het
Gpr132 G T 12: 112,815,728 (GRCm39) A366E probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 C T 15: 65,902,372 (GRCm39) M201I probably benign Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,388,372 (GRCm39) V2351A unknown Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mtr A T 13: 12,231,735 (GRCm39) N656K probably benign Het
Mtus1 T C 8: 41,536,166 (GRCm39) T517A probably benign Het
Pcare A T 17: 72,057,155 (GRCm39) C841S probably benign Het
Prdx3 T A 19: 60,853,621 (GRCm39) T235S probably benign Het
Rasa3 G A 8: 13,628,635 (GRCm39) H608Y probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Slc30a5 T C 13: 100,954,655 (GRCm39) M170V probably benign Het
Slc4a9 T C 18: 36,668,616 (GRCm39) V732A probably benign Het
Slc7a2 C T 8: 41,358,590 (GRCm39) T311M possibly damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Stk32b A G 5: 37,614,498 (GRCm39) S337P probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Timp2 C T 11: 118,194,542 (GRCm39) D139N probably damaging Het
Tmem45a T C 16: 56,627,101 (GRCm39) E256G probably damaging Het
Tox4 T A 14: 52,517,299 (GRCm39) Y10N probably damaging Het
Trpm3 A G 19: 22,878,524 (GRCm39) M642V possibly damaging Het
Ttll10 T C 4: 156,120,257 (GRCm39) T508A probably damaging Het
Tut7 T A 13: 59,937,069 (GRCm39) K791* probably null Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Vmn2r97 T C 17: 19,167,873 (GRCm39) I709T probably damaging Het
Zfp936 T A 7: 42,839,158 (GRCm39) N207K possibly damaging Het
Zfp946 T G 17: 22,673,531 (GRCm39) I95S probably benign Het
Zhx3 A T 2: 160,622,371 (GRCm39) S599T possibly damaging Het
Other mutations in Osgep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Osgep APN 14 51,153,619 (GRCm39) missense probably benign 0.21
IGL02366:Osgep APN 14 51,157,407 (GRCm39) missense probably damaging 0.98
IGL02800:Osgep APN 14 51,153,314 (GRCm39) utr 3 prime probably benign
IGL03258:Osgep APN 14 51,155,346 (GRCm39) missense possibly damaging 0.65
R3104:Osgep UTSW 14 51,154,286 (GRCm39) missense probably benign 0.03
R3105:Osgep UTSW 14 51,154,286 (GRCm39) missense probably benign 0.03
R3106:Osgep UTSW 14 51,154,286 (GRCm39) missense probably benign 0.03
R4608:Osgep UTSW 14 51,155,378 (GRCm39) missense probably damaging 1.00
R5152:Osgep UTSW 14 51,155,315 (GRCm39) missense probably damaging 0.99
R6169:Osgep UTSW 14 51,157,209 (GRCm39) missense possibly damaging 0.88
R7009:Osgep UTSW 14 51,162,165 (GRCm39) missense probably damaging 0.98
R7873:Osgep UTSW 14 51,153,347 (GRCm39) missense probably damaging 0.99
R8054:Osgep UTSW 14 51,162,128 (GRCm39) unclassified probably benign
R8477:Osgep UTSW 14 51,155,334 (GRCm39) missense probably damaging 1.00
R9537:Osgep UTSW 14 51,162,119 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGGGAAGCCTGTAAAATCTG -3'
(R):5'- AATGGAGTCTGCCTGTTCCC -3'

Sequencing Primer
(F):5'- GCCTGTAAAATCTGACATAGGC -3'
(R):5'- TCACGTGATTCGAGGGCTC -3'
Posted On 2015-04-17