Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:Ocstamp'

186447

Institutional Source

Beutler Lab

Gene Symbol

Ocstamp

Ensembl Gene

ENSMUSG00000027670

Gene Name

osteoclast stimulatory transmembrane protein

Synonyms

4833422F24Rik

MMRRC Submission

039693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165237370-165242314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165239436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 250 (D250G)

Ref Sequence

ENSEMBL: ENSMUSP00000029213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029213]

AlphaFold

Q9D611

Predicted Effect

probably damaging
Transcript: ENSMUST00000029213
AA Change: D250G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: D250G

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,910 (GRCm39)	D988E	probably benign	Het
Als2	A	G	1: 59,219,760 (GRCm39)	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,375,029 (GRCm39)	V391A	probably damaging	Het
Armh4	G	C	14: 50,011,017 (GRCm39)	T230S	probably damaging	Het
Caprin1	A	T	2: 103,599,851 (GRCm39)	V608E	probably damaging	Het
Celsr3	T	A	9: 108,720,151 (GRCm39)	C2512*	probably null	Het
Cfl1	A	T	19: 5,543,583 (GRCm39)	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,633,226 (GRCm39)	V42I	probably damaging	Het
Chd2	A	G	7: 73,130,178 (GRCm39)	Y826H	probably damaging	Het
Col9a2	C	A	4: 120,898,171 (GRCm39)	P28T	unknown	Het
Cyp3a44	G	A	5: 145,716,553 (GRCm39)	P346S	probably damaging	Het
Dact2	A	G	17: 14,418,252 (GRCm39)	V151A	probably benign	Het
Dhx29	T	C	13: 113,089,377 (GRCm39)	I716T	probably damaging	Het
Entrep1	C	A	19: 23,952,999 (GRCm39)	C437F	probably damaging	Het
Esam	T	C	9: 37,448,917 (GRCm39)	S342P	probably damaging	Het
Fer1l4	A	G	2: 155,877,518 (GRCm39)	V1053A	possibly damaging	Het
Grk3	A	G	5: 113,114,848 (GRCm39)	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,356,373 (GRCm39)		probably null	Het
Hsd3b5	T	A	3: 98,527,036 (GRCm39)	I137F	possibly damaging	Het
Itgav	A	T	2: 83,632,123 (GRCm39)	I902F	probably benign	Het
Itsn1	G	T	16: 91,706,111 (GRCm39)	C179F	probably damaging	Het
Kcnh8	G	A	17: 53,146,153 (GRCm39)	R347H	probably damaging	Het
Kif9	T	C	9: 110,319,034 (GRCm39)	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,749,453 (GRCm39)	Q324*	probably null	Het
Lcn9	G	A	2: 25,714,722 (GRCm39)	E154K	probably benign	Het
Mfge8	A	T	7: 78,791,521 (GRCm39)	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,960,525 (GRCm39)	R753*	probably null	Het
Mtif2	G	A	11: 29,490,721 (GRCm39)	R475Q	probably benign	Het
Nln	C	T	13: 104,173,455 (GRCm39)	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,856,050 (GRCm39)	E129G	probably benign	Het
Or1a1	A	T	11: 74,086,722 (GRCm39)	H131L	probably damaging	Het
Or52n4b	T	C	7: 108,144,584 (GRCm39)	I284T	possibly damaging	Het
Or8k27	A	C	2: 86,275,562 (GRCm39)	L255V	probably damaging	Het
Pld1	A	T	3: 28,125,336 (GRCm39)	I417L	probably benign	Het
Polr1a	A	T	6: 71,918,519 (GRCm39)	K692N	probably damaging	Het
Qsox2	A	T	2: 26,110,759 (GRCm39)	Y152*	probably null	Het
Rpap1	T	C	2: 119,614,259 (GRCm39)	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,320,085 (GRCm39)	T246A	probably damaging	Het
Scn5a	T	C	9: 119,391,446 (GRCm39)	D82G	probably damaging	Het
Sema3d	A	G	5: 12,634,941 (GRCm39)	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 34,064,209 (GRCm39)	N282S	probably benign	Het
Snap47	A	T	11: 59,319,596 (GRCm39)	S181T	probably benign	Het
Snx9	A	C	17: 5,968,711 (GRCm39)	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Terb1	A	T	8: 105,215,123 (GRCm39)	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,325,292 (GRCm39)	A153V	probably damaging	Het
Trappc2b	T	C	11: 51,576,505 (GRCm39)	Q131R	probably benign	Het
Ttn	T	C	2: 76,573,148 (GRCm39)	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,983,011 (GRCm39)	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,223,070 (GRCm39)	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,771,877 (GRCm39)		probably benign	Het
Zfp184	C	T	13: 22,143,443 (GRCm39)	T383M	probably damaging	Het
Zfp455	T	C	13: 67,346,703 (GRCm39)	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,668,567 (GRCm39)	N478K	probably benign	Het

Other mutations in Ocstamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02109:Ocstamp	APN	2	165,239,256 (GRCm39)	missense	possibly damaging	0.65
IGL02207:Ocstamp	APN	2	165,239,583 (GRCm39)	missense	possibly damaging	0.66
IGL02863:Ocstamp	APN	2	165,239,428 (GRCm39)	missense	probably damaging	1.00
R0309:Ocstamp	UTSW	2	165,237,912 (GRCm39)	missense	possibly damaging	0.75
R0402:Ocstamp	UTSW	2	165,238,184 (GRCm39)	missense	possibly damaging	0.55
R0590:Ocstamp	UTSW	2	165,239,671 (GRCm39)	missense	probably damaging	0.98
R0624:Ocstamp	UTSW	2	165,239,772 (GRCm39)	missense	probably damaging	0.97
R1385:Ocstamp	UTSW	2	165,237,959 (GRCm39)	missense	probably benign	0.00
R1696:Ocstamp	UTSW	2	165,238,094 (GRCm39)	missense	probably damaging	1.00
R4371:Ocstamp	UTSW	2	165,239,233 (GRCm39)	missense	possibly damaging	0.66
R4746:Ocstamp	UTSW	2	165,238,208 (GRCm39)	missense	probably benign	0.40
R4815:Ocstamp	UTSW	2	165,240,102 (GRCm39)	missense	probably benign	0.01
R5979:Ocstamp	UTSW	2	165,239,467 (GRCm39)	missense	probably damaging	1.00
R6821:Ocstamp	UTSW	2	165,239,842 (GRCm39)	missense	probably benign	0.00
R7084:Ocstamp	UTSW	2	165,239,957 (GRCm39)	nonsense	probably null
R7171:Ocstamp	UTSW	2	165,240,081 (GRCm39)	missense	probably benign
R7313:Ocstamp	UTSW	2	165,239,229 (GRCm39)	missense	probably damaging	1.00
R8162:Ocstamp	UTSW	2	165,239,787 (GRCm39)	missense	probably damaging	0.99
R9138:Ocstamp	UTSW	2	165,237,864 (GRCm39)	missense	probably benign	0.07
R9279:Ocstamp	UTSW	2	165,237,768 (GRCm39)	makesense	probably null
Z1088:Ocstamp	UTSW	2	165,237,838 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TAAGAGCAATGCCAGTAGCCCCAG -3'
(R):5'- GTGCCAAACGTCTTAGGCAATGTG -3'

Sequencing Primer
(F):5'- CAGCCTTAGGAGACAGCTCAG -3'
(R):5'- GGAGAGTCTGCTTAATACCACTTACC -3'

Posted On

2014-05-09