Incidental Mutation 'R6821:Ocstamp'
ID 537607
Institutional Source Beutler Lab
Gene Symbol Ocstamp
Ensembl Gene ENSMUSG00000027670
Gene Name osteoclast stimulatory transmembrane protein
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6821 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 165393760-165400405 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 165397922 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 115 (S115T)
Ref Sequence ENSEMBL: ENSMUSP00000029213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029213]
AlphaFold Q9D611
Predicted Effect probably benign
Transcript: ENSMUST00000029213
AA Change: S115T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: S115T

DomainStartEndE-ValueType
transmembrane domain 52 71 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
transmembrane domain 121 140 N/A INTRINSIC
transmembrane domain 222 244 N/A INTRINSIC
Pfam:DC_STAMP 253 445 1.5e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (63/65)
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 orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective osteoclast fusion but normal skeletal paramaters. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,288,836 I417T probably benign Het
Adamts12 A C 15: 11,152,048 K208T probably benign Het
Adamts8 T A 9: 30,956,626 L582Q probably benign Het
Aim2 C G 1: 173,463,980 T317R probably damaging Het
Ano9 A T 7: 141,107,256 F357I possibly damaging Het
Aox3 T C 1: 58,150,388 V416A probably benign Het
Arhgap21 A C 2: 20,848,848 F1901C probably benign Het
Atp8b2 A T 3: 89,948,173 F506I probably damaging Het
Atp9b A T 18: 80,847,248 L292H probably damaging Het
C2cd5 A G 6: 143,017,986 V891A probably damaging Het
Ccnt2 T C 1: 127,803,335 S650P probably damaging Het
Cdhr3 T A 12: 33,035,045 N791Y probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 104,309,702 probably null Het
D630003M21Rik A C 2: 158,204,774 L761R probably damaging Het
Draxin G T 4: 148,115,691 Q101K possibly damaging Het
Dtx3l A T 16: 35,933,060 L392Q probably damaging Het
Eif3d A G 15: 77,961,655 S389P possibly damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Epha4 T C 1: 77,382,945 N757S possibly damaging Het
Fam228b T C 12: 4,763,083 I96V probably benign Het
Gars A G 6: 55,079,338 E728G probably benign Het
Gldn T C 9: 54,338,770 M535T probably benign Het
Gm13089 A T 4: 143,699,304 L23* probably null Het
Gm47985 A G 1: 151,183,036 T143A possibly damaging Het
Gpr6 T C 10: 41,071,008 T193A probably benign Het
Grik5 C T 7: 25,046,355 R431Q possibly damaging Het
Hecw1 T A 13: 14,264,134 Y1315F probably damaging Het
Hs3st2 A G 7: 121,500,522 D197G possibly damaging Het
Igsf9 T C 1: 172,484,493 I2T probably benign Het
Ints9 A G 14: 65,037,458 E621G probably benign Het
Itm2b G A 14: 73,366,467 P47S probably benign Het
Map10 A G 8: 125,670,399 K177R probably benign Het
Mdh2 T C 5: 135,789,671 F260S possibly damaging Het
Mtmr11 A G 3: 96,170,407 T573A probably benign Het
Mycbp2 A T 14: 103,139,409 I3812N probably damaging Het
Myo15 A G 11: 60,524,475 N3403S probably damaging Het
Nvl G A 1: 181,126,970 Q343* probably null Het
Olfr632 A T 7: 103,937,586 I69F probably benign Het
Otoa G A 7: 121,092,847 probably null Het
Pcdhb20 A T 18: 37,506,122 N567I probably damaging Het
Pgm5 A T 19: 24,861,647 V48E possibly damaging Het
Phlpp1 T A 1: 106,386,444 S1182R probably damaging Het
Pik3r4 T A 9: 105,650,606 L386Q probably damaging Het
Pop1 A G 15: 34,508,639 K287E possibly damaging Het
Rad54b A G 4: 11,612,777 D803G probably damaging Het
Rbm26 G A 14: 105,116,964 probably benign Het
Rspry1 C T 8: 94,635,431 Q113* probably null Het
Siah2 T A 3: 58,691,770 S16C probably benign Het
Sirpa C A 2: 129,630,097 D481E probably damaging Het
Slc38a7 A C 8: 95,844,920 D227E probably benign Het
Smc5 A G 19: 23,242,787 V438A probably benign Het
Spast A G 17: 74,351,962 E108G probably benign Het
Speg A G 1: 75,417,903 E1752G possibly damaging Het
Tanc2 T G 11: 105,886,490 probably null Het
Tgfbi T C 13: 56,626,137 I243T possibly damaging Het
Tlr12 T C 4: 128,616,892 S522G possibly damaging Het
Trav14-3 A G 14: 53,763,472 I47V probably benign Het
Tsc22d4 T C 5: 137,762,644 V109A possibly damaging Het
Ttl G A 2: 129,068,915 R73H probably damaging Het
Usp34 C T 11: 23,367,491 T850I possibly damaging Het
Vdac3 T C 8: 22,580,475 Y140C probably damaging Het
Vmn2r120 T C 17: 57,536,659 R62G probably benign Het
Vmn2r17 T A 5: 109,429,465 Y461N probably damaging Het
Wt1 T A 2: 105,172,267 F493I probably damaging Het
Other mutations in Ocstamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02109:Ocstamp APN 2 165397336 missense possibly damaging 0.65
IGL02207:Ocstamp APN 2 165397663 missense possibly damaging 0.66
IGL02863:Ocstamp APN 2 165397508 missense probably damaging 1.00
R0309:Ocstamp UTSW 2 165395992 missense possibly damaging 0.75
R0402:Ocstamp UTSW 2 165396264 missense possibly damaging 0.55
R0590:Ocstamp UTSW 2 165397751 missense probably damaging 0.98
R0624:Ocstamp UTSW 2 165397852 missense probably damaging 0.97
R1385:Ocstamp UTSW 2 165396039 missense probably benign 0.00
R1657:Ocstamp UTSW 2 165397516 missense probably damaging 0.99
R1696:Ocstamp UTSW 2 165396174 missense probably damaging 1.00
R4371:Ocstamp UTSW 2 165397313 missense possibly damaging 0.66
R4746:Ocstamp UTSW 2 165396288 missense probably benign 0.40
R4815:Ocstamp UTSW 2 165398182 missense probably benign 0.01
R5979:Ocstamp UTSW 2 165397547 missense probably damaging 1.00
R7084:Ocstamp UTSW 2 165398037 nonsense probably null
R7171:Ocstamp UTSW 2 165398161 missense probably benign
R7313:Ocstamp UTSW 2 165397309 missense probably damaging 1.00
R8162:Ocstamp UTSW 2 165397867 missense probably damaging 0.99
R9138:Ocstamp UTSW 2 165395944 missense probably benign 0.07
R9279:Ocstamp UTSW 2 165395848 makesense probably null
Z1088:Ocstamp UTSW 2 165395918 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CCTCGACCTCAAATGTCAGG -3'
(R):5'- TTGGCCAGTCTTATCGCAGG -3'

Sequencing Primer
(F):5'- ACCTCAAATGTCAGGCTGCG -3'
(R):5'- AGTCTTATCGCAGGCCTGG -3'
Posted On 2018-10-18