Incidental Mutation 'R3106:Osgep'
ID 263077
Institutional Source Beutler Lab
Gene Symbol Osgep
Ensembl Gene ENSMUSG00000006289
Gene Name O-sialoglycoprotein endopeptidase
Synonyms GCPL-1, 1500019L24Rik, PRSMG1
MMRRC Submission 040580-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3106 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 50906478-50924893 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50916829 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 225 (T225A)
Ref Sequence ENSEMBL: ENSMUSP00000125155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006452] [ENSMUST00000159292] [ENSMUST00000160375] [ENSMUST00000160393] [ENSMUST00000160890] [ENSMUST00000162177]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006452
SMART Domains Protein: ENSMUSP00000006452
Gene: ENSMUSG00000006289

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: T225A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124039
Gene: ENSMUSG00000006289
AA Change: T225A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160375
AA Change: T144A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124099
Gene: ENSMUSG00000006289
AA Change: T144A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 156 1.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160393
AA Change: T225A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125155
Gene: ENSMUSG00000006289
AA Change: T225A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 301 3.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160464
Predicted Effect probably benign
Transcript: ENSMUST00000160890
SMART Domains Protein: ENSMUSP00000124659
Gene: ENSMUSG00000006289

DomainStartEndE-ValueType
Pfam:Peptidase_M22 23 79 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162177
AA Change: T144A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124016
Gene: ENSMUSG00000006289
AA Change: T144A

DomainStartEndE-ValueType
Pfam:Peptidase_M22 1 220 1.1e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162850
Meta Mutation Damage Score 0.0836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 120,396,633 E1331V possibly damaging Het
Adam22 A G 5: 8,117,583 probably null Het
Adamts17 T A 7: 67,125,072 S980T probably damaging Het
Adarb1 C A 10: 77,321,757 K285N probably damaging Het
Atp5c1 A G 2: 10,063,465 S160P probably benign Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 128,125,077 probably null Het
Btf3 T G 13: 98,310,988 E145D probably benign Het
Ccdc184 G T 15: 98,168,601 A96S probably damaging Het
Ccdc191 T C 16: 43,931,210 F301S probably damaging Het
Ceacam5 T C 7: 17,747,323 Y332H probably benign Het
Clip2 T C 5: 134,523,064 K68R probably benign Het
Cntln C T 4: 84,957,169 T280M possibly damaging Het
Col6a3 T C 1: 90,816,302 R515G probably damaging Het
Ctnnal1 G A 4: 56,813,246 L662F probably benign Het
Dennd3 C A 15: 73,565,124 S118* probably null Het
Dgkg T A 16: 22,575,341 T321S probably damaging Het
Dzip1l A T 9: 99,642,572 K249* probably null Het
Dzip1l A G 9: 99,647,121 E301G probably benign Het
Emc10 G A 7: 44,493,192 R109W probably damaging Het
Ezh1 A C 11: 101,195,642 C575W probably damaging Het
Fam187b A G 7: 30,977,240 D58G probably benign Het
Galnt4 T C 10: 99,109,381 Y323H probably benign Het
Gm13119 T C 4: 144,361,676 V14A probably benign Het
Grm1 A G 10: 11,079,857 S228P probably benign Het
Hist1h1c G T 13: 23,738,900 A18S unknown Het
Hnf4g T G 3: 3,652,856 S388R probably benign Het
Il1rap A G 16: 26,722,752 E581G probably benign Het
Lemd2 C A 17: 27,201,670 L256F probably damaging Het
Mnd1 C A 3: 84,134,109 C62F probably benign Het
Nphs1 C A 7: 30,467,540 S724* probably null Het
Olfr1136 T C 2: 87,693,505 I126V probably damaging Het
Olfr1284 A G 2: 111,379,495 N165S probably benign Het
Pan3 T C 5: 147,539,379 probably benign Het
Pld3 A G 7: 27,535,787 probably null Het
Plekha7 C T 7: 116,164,404 R321K probably benign Het
Plekhg5 C T 4: 152,112,178 T694M probably damaging Het
Ptpn20 A G 14: 33,612,296 I44V probably benign Het
Ptprj T A 2: 90,440,631 H1251L probably damaging Het
Sbspon T C 1: 15,892,582 E24G probably benign Het
Sfmbt1 G A 14: 30,817,796 C847Y probably damaging Het
Sparcl1 T C 5: 104,093,337 T74A probably benign Het
Sppl2b A G 10: 80,867,491 E529G probably benign Het
Stradb C A 1: 58,992,291 H212Q possibly damaging Het
Tkfc G T 19: 10,596,993 C198* probably null Het
Tm4sf4 C T 3: 57,437,622 R150C possibly damaging Het
Tmem212 T C 3: 27,884,870 S156G probably damaging Het
Tmem51 T C 4: 142,037,724 N8D probably damaging Het
Tmigd1 A G 11: 76,910,298 T204A possibly damaging Het
Trp53bp1 A G 2: 121,236,652 L531S probably damaging Het
Tsga10 G A 1: 37,801,791 L445F probably damaging Het
Urb1 C T 16: 90,795,443 V310I probably damaging Het
Vmn2r-ps159 T A 4: 156,333,435 noncoding transcript Het
Wdr19 T C 5: 65,202,623 S24P probably benign Het
Other mutations in Osgep
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Osgep APN 14 50916162 missense probably benign 0.21
IGL02366:Osgep APN 14 50919950 missense probably damaging 0.98
IGL02800:Osgep APN 14 50915857 utr 3 prime probably benign
IGL03258:Osgep APN 14 50917889 missense possibly damaging 0.65
R3104:Osgep UTSW 14 50916829 missense probably benign 0.03
R3105:Osgep UTSW 14 50916829 missense probably benign 0.03
R3899:Osgep UTSW 14 50924743 missense probably damaging 1.00
R4608:Osgep UTSW 14 50917921 missense probably damaging 1.00
R5152:Osgep UTSW 14 50917858 missense probably damaging 0.99
R6169:Osgep UTSW 14 50919752 missense possibly damaging 0.88
R7009:Osgep UTSW 14 50924708 missense probably damaging 0.98
R7873:Osgep UTSW 14 50915890 missense probably damaging 0.99
R8054:Osgep UTSW 14 50924671 unclassified probably benign
R8477:Osgep UTSW 14 50917877 missense probably damaging 1.00
R9537:Osgep UTSW 14 50924662 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCTTGGAGCCACAGTGTG -3'
(R):5'- AGTCGAGCTGCCATACACTG -3'

Sequencing Primer
(F):5'- AGCCACAGTGTGCCATG -3'
(R):5'- CCAGGCACTACTGCAATGATTGG -3'
Posted On 2015-02-05