Incidental Mutation 'R6169:Osgep'
ID 490339
Institutional Source Beutler Lab
Gene Symbol Osgep
Ensembl Gene ENSMUSG00000006289
Gene Name O-sialoglycoprotein endopeptidase
Synonyms PRSMG1, 1500019L24Rik, GCPL-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6169 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51152831-51162350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51157209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 11 (V11A)
Ref Sequence ENSEMBL: ENSMUSP00000124099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160393] [ENSMUST00000162177] [ENSMUST00000160890]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006452
AA Change: V92A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289
AA Change: V92A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 186 1.1e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157760
Predicted Effect probably benign
Transcript: ENSMUST00000159292
AA Change: V92A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289
AA Change: V92A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160375
AA Change: V11A

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289
AA Change: V11A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 156 1.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160393
AA Change: V92A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289
AA Change: V92A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160464
Predicted Effect probably benign
Transcript: ENSMUST00000162177
AA Change: V11A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289
AA Change: V11A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 220 1.1e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162850
Predicted Effect probably benign
Transcript: ENSMUST00000160890
SMART Domains Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 79 1.7e-14 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (67/71)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C A 11: 3,888,005 (GRCm39) C127F unknown Het
9930111J21Rik2 A T 11: 48,910,088 (GRCm39) probably null Het
Adamts16 A T 13: 70,918,393 (GRCm39) L676* probably null Het
Adgrv1 A T 13: 81,567,378 (GRCm39) V5265E probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Akap6 T A 12: 53,189,141 (GRCm39) M2185K probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Ankrd50 A G 3: 38,509,988 (GRCm39) V793A probably damaging Het
Arid2 T A 15: 96,266,558 (GRCm39) N535K probably benign Het
Atrnl1 A G 19: 57,630,895 (GRCm39) T221A probably benign Het
Bbof1 C T 12: 84,473,588 (GRCm39) T306I probably benign Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Ccdc60 C A 5: 116,275,131 (GRCm39) A351S probably benign Het
Cetn3 A C 13: 81,940,097 (GRCm39) R44S probably damaging Het
Cluap1 A G 16: 3,746,425 (GRCm39) K262R possibly damaging Het
Cnrip1 G A 11: 17,004,731 (GRCm39) V94I probably null Het
Cog6 A T 3: 52,914,722 (GRCm39) S245T probably benign Het
Disp2 T A 2: 118,622,031 (GRCm39) V921D probably damaging Het
Entrep2 G A 7: 64,409,147 (GRCm39) P416S probably benign Het
Ep400 T C 5: 110,889,863 (GRCm39) K504E possibly damaging Het
Fbn1 T A 2: 125,177,409 (GRCm39) probably null Het
Fyb2 T C 4: 104,857,713 (GRCm39) V630A probably benign Het
Gm43218 T A 6: 70,217,606 (GRCm39) Y50F probably benign Het
Gm5431 T C 11: 48,779,402 (GRCm39) T507A probably benign Het
Gucy2e G T 11: 69,126,930 (GRCm39) A181E probably benign Het
Hrnr C G 3: 93,233,062 (GRCm39) S1100* probably null Het
Htt T C 5: 35,064,817 (GRCm39) V3010A probably damaging Het
Ighv1-11 T C 12: 114,575,918 (GRCm39) Y99C probably damaging Het
Ighv1-12 T C 12: 114,579,577 (GRCm39) K25E possibly damaging Het
Il6ra A G 3: 89,778,598 (GRCm39) F417S probably benign Het
Itgb4 T C 11: 115,885,102 (GRCm39) S994P probably damaging Het
Itgbl1 G A 14: 123,897,790 (GRCm39) A24T probably benign Het
Itpr1 T C 6: 108,346,077 (GRCm39) F127L probably damaging Het
Itprid2 T G 2: 79,475,406 (GRCm39) I455R probably damaging Het
Krt86 A G 15: 101,374,170 (GRCm39) Y243C probably damaging Het
Lnx1 A T 5: 74,838,230 (GRCm39) W11R probably damaging Het
Mast4 A G 13: 102,923,929 (GRCm39) L302P probably damaging Het
Mettl3 A G 14: 52,536,214 (GRCm39) V210A possibly damaging Het
Mllt1 T C 17: 57,206,822 (GRCm39) T341A probably benign Het
Obscn T C 11: 58,891,325 (GRCm39) E7069G unknown Het
Or1e27-ps1 A T 11: 73,556,160 (GRCm39) T242S possibly damaging Het
Or52b4 T C 7: 102,184,479 (GRCm39) I175T probably benign Het
Oxld1 G A 11: 120,347,675 (GRCm39) A174V possibly damaging Het
Pibf1 A T 14: 99,350,443 (GRCm39) E197V probably null Het
Pkn1 G A 8: 84,407,835 (GRCm39) Q425* probably null Het
Pramel22 T C 4: 143,380,685 (GRCm39) Y446C probably benign Het
Prss35 T C 9: 86,637,491 (GRCm39) I87T probably benign Het
Psmc3 T C 2: 90,888,184 (GRCm39) F304S probably damaging Het
Psmd11 T A 11: 80,351,539 (GRCm39) M254K probably damaging Het
Ralgapa2 T C 2: 146,292,385 (GRCm39) Y218C probably damaging Het
Sec23b C T 2: 144,428,894 (GRCm39) R701C probably damaging Het
Slc22a21 A G 11: 53,848,913 (GRCm39) S280P probably damaging Het
Slc39a12 T C 2: 14,405,044 (GRCm39) I212T possibly damaging Het
Slc7a12 T C 3: 14,562,388 (GRCm39) V255A probably damaging Het
Smc3 T A 19: 53,622,517 (GRCm39) N697K probably benign Het
Snai1 C A 2: 167,380,831 (GRCm39) P108Q probably benign Het
Stim2 T G 5: 54,276,021 (GRCm39) L732R probably damaging Het
Syde1 A G 10: 78,421,938 (GRCm39) L597S probably damaging Het
Tcte1 T A 17: 45,845,996 (GRCm39) M200K probably benign Het
Tenm2 T A 11: 36,030,517 (GRCm39) T761S probably damaging Het
Thoc2l T A 5: 104,666,262 (GRCm39) N261K probably benign Het
Tlr2 C A 3: 83,745,455 (GRCm39) E209D probably benign Het
Tpp2 T C 1: 44,022,739 (GRCm39) L33P probably damaging Het
Trmt1l C A 1: 151,304,704 (GRCm39) probably benign Het
Unc45a A C 7: 79,978,511 (GRCm39) S646A possibly damaging Het
Usp37 A T 1: 74,534,910 (GRCm39) I12N probably damaging Het
Vmn2r81 T C 10: 79,104,382 (GRCm39) V335A probably benign Het
Wwc2 A T 8: 48,311,878 (GRCm39) S762T unknown Het
Yeats2 A G 16: 20,038,417 (GRCm39) K129E probably damaging Het
Zscan4-ps2 T C 7: 11,251,558 (GRCm39) V198A probably benign 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
R3899:Osgep UTSW 14 51,162,200 (GRCm39) missense probably damaging 1.00
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
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'- CTTAGGTCTGAATGAGCCTGG -3'
(R):5'- CTGGGAGAGTTGTCAGCAAG -3'

Sequencing Primer
(F):5'- TGCAGCTCCTATAACTCAGGTAG -3'
(R):5'- TTGTCAGCAAGGGCAGTATG -3'
Posted On 2017-10-10