Mutagenetix > Incidental Mutation

Incidental Mutation 'R0102:Sdcbp2'

99001

Institutional Source

Beutler Lab

Gene Symbol

Sdcbp2

Ensembl Gene

ENSMUSG00000027456

Gene Name

syndecan binding protein (syntenin) 2

Synonyms

MMRRC Submission

038388-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R0102 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

151414542-151431925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151425884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 29 (T29A)

Ref Sequence

ENSEMBL: ENSMUSP00000028950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028950]

AlphaFold

Q99JZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000028950
AA Change: T29A

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

SMART Domains

Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456
AA Change: T29A

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PDZ	117	188	2.13e-9	SMART
PDZ	201	267	1.99e-9	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.5%
20x: 91.8%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,874 (GRCm39)	K1021R	probably damaging	Het
2610528J11Rik	G	A	4: 118,386,762 (GRCm39)	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,265,795 (GRCm39)	R292*	probably null	Het
Abcb4	T	C	5: 8,959,194 (GRCm39)	F207S	probably damaging	Het
Afap1l2	G	T	19: 56,916,872 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,687,385 (GRCm39)	H203L	probably benign	Het
Cfi	A	C	3: 129,642,416 (GRCm39)	H90P	probably damaging	Het
Col1a2	T	A	6: 4,520,775 (GRCm39)	S371T	possibly damaging	Het
Cyp2d10	C	T	15: 82,288,794 (GRCm39)	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,897 (GRCm39)		probably benign	Het
Dnttip2	G	T	3: 122,069,452 (GRCm39)	M222I	probably benign	Het
Dync1li2	A	T	8: 105,154,757 (GRCm39)	Y284N	probably benign	Het
Ebf1	T	C	11: 44,882,282 (GRCm39)	Y413H	probably benign	Het
Exog	A	G	9: 119,281,319 (GRCm39)	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,334,939 (GRCm39)	N66S	possibly damaging	Het
Gad1	G	A	2: 70,417,583 (GRCm39)		probably null	Het
Golgb1	C	A	16: 36,695,830 (GRCm39)		probably benign	Het
Gprc5a	A	T	6: 135,056,033 (GRCm39)	N160I	probably damaging	Het
Haus3	A	G	5: 34,323,258 (GRCm39)		probably null	Het
Klhl20	A	T	1: 160,918,015 (GRCm39)	C90*	probably null	Het
Krt84	T	A	15: 101,437,138 (GRCm39)	I342L	probably damaging	Het
Lifr	G	A	15: 7,208,373 (GRCm39)	D584N	probably damaging	Het
Lrp1b	G	A	2: 41,298,997 (GRCm39)		probably benign	Het
Lrtm1	T	A	14: 28,744,184 (GRCm39)		probably benign	Het
Med25	C	T	7: 44,534,904 (GRCm39)	V80I	possibly damaging	Het
Mest	A	G	6: 30,746,269 (GRCm39)	I279V	probably damaging	Het
Mki67	T	C	7: 135,315,532 (GRCm39)	R81G	probably benign	Het
Naa25	A	G	5: 121,573,632 (GRCm39)	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,162,534 (GRCm39)	P465S	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Necab3	G	A	2: 154,387,232 (GRCm39)	R302C	probably damaging	Het
Nsg1	A	T	5: 38,316,254 (GRCm39)	D32E	probably damaging	Het
Nuggc	A	G	14: 65,851,000 (GRCm39)	D290G	probably null	Het
Nup205	A	T	6: 35,202,715 (GRCm39)		probably benign	Het
Or11g27	T	A	14: 50,771,088 (GRCm39)	L73Q	probably damaging	Het
Or2w6	T	C	13: 21,842,905 (GRCm39)	D196G	probably damaging	Het
Or4a77	T	C	2: 89,486,999 (GRCm39)	N262S	probably benign	Het
Or4c111	T	C	2: 88,844,015 (GRCm39)	Y131C	probably damaging	Het
Or4f57	G	C	2: 111,790,942 (GRCm39)	Q159E	probably damaging	Het
Or8h10	A	T	2: 86,808,549 (GRCm39)	I197N	possibly damaging	Het
Otp	T	C	13: 95,013,663 (GRCm39)	V27A	probably benign	Het
Phip	A	T	9: 82,787,845 (GRCm39)		probably null	Het
Pon2	A	G	6: 5,289,091 (GRCm39)		probably benign	Het
Ppp1r12b	T	A	1: 134,763,637 (GRCm39)		probably null	Het
Ppp1r15b	A	G	1: 133,060,908 (GRCm39)	N475S	probably damaging	Het
Prrt3	A	T	6: 113,474,790 (GRCm39)	L144H	probably damaging	Het
Psmb7	A	G	2: 38,533,377 (GRCm39)	V50A	possibly damaging	Het
Sacs	T	A	14: 61,442,017 (GRCm39)	S1354R	probably damaging	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,794,452 (GRCm39)	I447T	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,676 (GRCm39)	V48A	probably damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trappc12	A	T	12: 28,796,751 (GRCm39)	F260L	probably damaging	Het
Trim10	C	A	17: 37,181,074 (GRCm39)	H102N	probably damaging	Het
Ube2u	A	G	4: 100,407,122 (GRCm39)	T215A	possibly damaging	Het
Vcan	T	G	13: 89,851,787 (GRCm39)	T1058P	probably benign	Het

Other mutations in Sdcbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01830:Sdcbp2	APN	2	151,431,494 (GRCm39)	missense	probably damaging	1.00
IGL03013:Sdcbp2	APN	2	151,429,255 (GRCm39)	missense	probably benign	0.22
R0102:Sdcbp2	UTSW	2	151,425,884 (GRCm39)	missense	probably benign
R0105:Sdcbp2	UTSW	2	151,431,478 (GRCm39)	missense	probably benign
R5270:Sdcbp2	UTSW	2	151,426,812 (GRCm39)	missense	probably benign
R5396:Sdcbp2	UTSW	2	151,429,057 (GRCm39)	missense	probably damaging	1.00
R5652:Sdcbp2	UTSW	2	151,431,135 (GRCm39)	missense	probably benign	0.09
R5994:Sdcbp2	UTSW	2	151,429,403 (GRCm39)	missense	probably damaging	0.99
R6042:Sdcbp2	UTSW	2	151,424,646 (GRCm39)	nonsense	probably null
R7295:Sdcbp2	UTSW	2	151,429,321 (GRCm39)	missense	possibly damaging	0.52
R8708:Sdcbp2	UTSW	2	151,431,457 (GRCm39)	missense	probably benign	0.12
R8986:Sdcbp2	UTSW	2	151,429,150 (GRCm39)	missense	probably benign	0.00
R9003:Sdcbp2	UTSW	2	151,429,113 (GRCm39)	missense	probably benign	0.04
R9767:Sdcbp2	UTSW	2	151,429,057 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGAGTGAGCACATGCAGCTACC -3'
(R):5'- TTTGAGACCACTAGGGACCACAGG -3'

Sequencing Primer
(F):5'- TGCAGCTACCACAAGTCTAC -3'
(R):5'- TGAGCTTCTAAATGGGCTACC -3'

Posted On

2014-01-10