Mutagenetix > Incidental Mutation

Incidental Mutation 'R1743:Sdc2'

200542

Institutional Source

Beutler Lab

Gene Symbol

Sdc2

Ensembl Gene

ENSMUSG00000022261

Gene Name

syndecan 2

Synonyms

Hspg1, Synd2, fibroglycan, 4833414L08Rik

MMRRC Submission

039775-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32920869-33034867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33028224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 114 (D114G)

Ref Sequence

ENSEMBL: ENSMUSP00000022871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022871]

AlphaFold

P43407

Predicted Effect

probably benign
Transcript: ENSMUST00000022871
AA Change: D114G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022871
Gene: ENSMUSG00000022261
AA Change: D114G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
4.1m	169	187	3.69e-3	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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 a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	A	11: 53,259,522 (GRCm39)	M11K	possibly damaging	Het
Ank2	T	C	3: 126,722,324 (GRCm39)	D88G	probably damaging	Het
Arhgap32	A	G	9: 32,170,727 (GRCm39)	E1169G	probably benign	Het
Atp7b	A	T	8: 22,496,403 (GRCm39)	V865E	probably damaging	Het
Bcl2l13	T	A	6: 120,825,504 (GRCm39)	Y13*	probably null	Het
Birc6	A	G	17: 74,886,751 (GRCm39)	Q693R	possibly damaging	Het
Bub1	T	C	2: 127,655,770 (GRCm39)	D520G	probably damaging	Het
Ccdc15	A	T	9: 37,188,773 (GRCm39)	Y770*	probably null	Het
Cenpf	T	C	1: 189,386,460 (GRCm39)	E1940G	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cmya5	A	G	13: 93,233,825 (GRCm39)	V421A	probably benign	Het
Cnnm1	A	T	19: 43,460,352 (GRCm39)	Y698F	possibly damaging	Het
Cnst	C	T	1: 179,437,957 (GRCm39)	T507I	probably benign	Het
Coq8a	T	C	1: 180,009,794 (GRCm39)	M4V	probably benign	Het
Csmd3	A	G	15: 48,485,485 (GRCm39)	L140P	probably damaging	Het
Cul2	A	T	18: 3,426,851 (GRCm39)	I431F	probably damaging	Het
Dnah8	G	T	17: 30,988,625 (GRCm39)	E3198D	probably benign	Het
Dnai3	C	A	3: 145,803,017 (GRCm39)	R58L	possibly damaging	Het
Epn2	T	A	11: 61,437,237 (GRCm39)	I112F	possibly damaging	Het
Ext2	T	C	2: 93,560,570 (GRCm39)	E532G	probably damaging	Het
Fndc3a	A	T	14: 72,889,521 (GRCm39)	V37E	probably damaging	Het
Gabbr2	A	G	4: 46,677,603 (GRCm39)	F759S	possibly damaging	Het
Ghr	G	A	15: 3,349,723 (GRCm39)	P485L	probably benign	Het
Glipr1l2	G	T	10: 111,928,470 (GRCm39)	V122L	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm6871	G	T	7: 41,195,876 (GRCm39)	T287K	probably damaging	Het
Gm7275	A	G	16: 47,894,120 (GRCm39)		noncoding transcript	Het
Hephl1	C	T	9: 15,001,364 (GRCm39)	V254I	probably damaging	Het
Hnf4a	C	A	2: 163,408,259 (GRCm39)	Q362K	possibly damaging	Het
Kcne3	C	T	7: 99,833,631 (GRCm39)	R83C	probably damaging	Het
Klb	C	A	5: 65,533,204 (GRCm39)	N504K	probably damaging	Het
Loxl2	T	A	14: 69,929,851 (GRCm39)	I743N	possibly damaging	Het
Lrrc9	A	T	12: 72,502,891 (GRCm39)	L287F	probably damaging	Het
Mcm3ap	C	T	10: 76,320,508 (GRCm39)	P822L	possibly damaging	Het
Nacc2	T	C	2: 25,950,155 (GRCm39)	N527S	probably benign	Het
Ncam1	G	T	9: 49,468,445 (GRCm39)	P338H	probably damaging	Het
Nfkbiz	G	T	16: 55,636,757 (GRCm39)	Q515K	possibly damaging	Het
Nipsnap2	T	C	5: 129,834,149 (GRCm39)	L263P	probably damaging	Het
Nlrp1a	A	T	11: 71,015,032 (GRCm39)	S73T	probably benign	Het
Nomo1	G	A	7: 45,719,461 (GRCm39)		probably null	Het
Nos3	G	A	5: 24,582,310 (GRCm39)	G594D	probably benign	Het
Oprm1	A	G	10: 6,780,105 (GRCm39)	I256V	probably damaging	Het
Or10ak16	A	G	4: 118,750,723 (GRCm39)	T148A	probably benign	Het
Or10n1	A	T	9: 39,524,916 (GRCm39)	T18S	possibly damaging	Het
Or2b2	A	G	13: 21,887,620 (GRCm39)	I150V	probably benign	Het
Oxct2a	A	T	4: 123,217,309 (GRCm39)	L24Q	possibly damaging	Het
Pcdhb14	T	G	18: 37,581,231 (GRCm39)	S112R	probably benign	Het
Polr2a	A	G	11: 69,630,329 (GRCm39)	I1246T	probably damaging	Het
Ppil4	A	T	10: 7,683,145 (GRCm39)	K327N	probably damaging	Het
Pramel30	T	C	4: 144,059,575 (GRCm39)	S429P	probably benign	Het
Pstpip1	T	C	9: 56,033,214 (GRCm39)	Y249H	probably damaging	Het
Qrsl1	A	T	10: 43,757,511 (GRCm39)	V369E	probably damaging	Het
Ranbp10	G	T	8: 106,506,610 (GRCm39)	P237T	probably damaging	Het
Rapgef6	A	G	11: 54,567,110 (GRCm39)	N1097S	probably damaging	Het
Repin1	T	A	6: 48,574,684 (GRCm39)	S538T	probably damaging	Het
Rims2	A	T	15: 39,543,046 (GRCm39)	M1151L	probably benign	Het
Rin3	T	A	12: 102,356,355 (GRCm39)	D965E	possibly damaging	Het
Slc25a30	C	A	14: 76,012,523 (GRCm39)	A42S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Ssh2	T	A	11: 77,328,582 (GRCm39)	F383I	probably damaging	Het
St8sia1	A	T	6: 142,774,742 (GRCm39)	V279E	probably damaging	Het
Tacc2	C	A	7: 130,228,328 (GRCm39)	S1690*	probably null	Het
Taf1b	A	G	12: 24,597,177 (GRCm39)	D372G	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem165	G	T	5: 76,355,673 (GRCm39)	G272C	probably damaging	Het
Tsc22d2	TCAGTTAACACCTATGAACAGT	TCAGT	3: 58,324,960 (GRCm39)		probably null	Het
Tssk4	C	A	14: 55,888,488 (GRCm39)	A119D	probably damaging	Het
Usp9y	A	G	Y: 1,316,727 (GRCm39)	Y1941H	probably damaging	Het
Vmn2r42	A	T	7: 8,187,264 (GRCm39)	M786K	probably benign	Het
Wdfy3	G	T	5: 101,991,931 (GRCm39)	T3470K	probably benign	Het
Zc3h14	T	C	12: 98,745,448 (GRCm39)	V479A	probably benign	Het
Zfp821	G	A	8: 110,450,796 (GRCm39)	R263Q	probably damaging	Het

Other mutations in Sdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0510:Sdc2	UTSW	15	33,017,235 (GRCm39)	splice site	probably benign
R4032:Sdc2	UTSW	15	33,017,323 (GRCm39)	missense	probably damaging	1.00
R4577:Sdc2	UTSW	15	33,017,278 (GRCm39)	missense	probably damaging	1.00
R4859:Sdc2	UTSW	15	33,032,602 (GRCm39)	missense	probably damaging	1.00
R5800:Sdc2	UTSW	15	33,028,290 (GRCm39)	missense	probably benign	0.02
R5918:Sdc2	UTSW	15	33,028,313 (GRCm39)	missense	probably benign	0.12
R6782:Sdc2	UTSW	15	33,028,281 (GRCm39)	missense	probably damaging	0.96
R7757:Sdc2	UTSW	15	33,028,233 (GRCm39)	missense	possibly damaging	0.51
R8838:Sdc2	UTSW	15	33,023,897 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCAAACTGGGACTCACCAACTG -3'
(R):5'- AGCCTGGAGATTGCTTCCTGAAGG -3'

Sequencing Primer
(F):5'- GACTCACCAACTGGCAAAATAAAC -3'
(R):5'- GCTTCCTGAAGGCCAGTAATG -3'

Posted On

2014-05-23