Incidental Mutation 'R7722:Sdcbp'
ID 595269
Institutional Source Beutler Lab
Gene Symbol Sdcbp
Ensembl Gene ENSMUSG00000028249
Gene Name syndecan binding protein
Synonyms syntenin-1, Sycl, MDA-9, syndecan interacting protein, syntenin
MMRRC Submission 045778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R7722 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 6365654-6396122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6385063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 94 (V94E)
Ref Sequence ENSEMBL: ENSMUSP00000029912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029912] [ENSMUST00000103008] [ENSMUST00000108374] [ENSMUST00000140830] [ENSMUST00000153861] [ENSMUST00000175769]
AlphaFold O08992
Predicted Effect possibly damaging
Transcript: ENSMUST00000029912
AA Change: V94E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029912
Gene: ENSMUSG00000028249
AA Change: V94E

DomainStartEndE-ValueType
PDZ 124 195 7.09e-15 SMART
PDZ 208 274 6.04e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103008
AA Change: V93E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100073
Gene: ENSMUSG00000028249
AA Change: V93E

DomainStartEndE-ValueType
PDZ 123 194 7.09e-15 SMART
PDZ 207 273 6.04e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108374
AA Change: V94E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104011
Gene: ENSMUSG00000028249
AA Change: V94E

DomainStartEndE-ValueType
PDZ 124 195 2.84e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140830
SMART Domains Protein: ENSMUSP00000122411
Gene: ENSMUSG00000028249

DomainStartEndE-ValueType
Blast:PDZ 56 91 1e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000153861
AA Change: V93E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119838
Gene: ENSMUSG00000028249
AA Change: V93E

DomainStartEndE-ValueType
PDZ 123 194 7.09e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000175769
AA Change: V94E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135777
Gene: ENSMUSG00000028249
AA Change: V94E

DomainStartEndE-ValueType
PDZ 124 195 7.09e-15 SMART
Blast:PDZ 208 249 1e-21 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. Related pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice heterozygous for a conditional allele activated in neurons exhibit abnormal dendrite morphology and reduced mEPSC frequency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,029,231 (GRCm39) E151G probably benign Het
Alpk2 A T 18: 65,483,228 (GRCm39) L260H probably damaging Het
Amh T C 10: 80,642,458 (GRCm39) V247A probably benign Het
Ank2 T A 3: 126,822,951 (GRCm39) I431L probably benign Het
Ano7 G A 1: 93,318,145 (GRCm39) A286T probably damaging Het
Atp8a1 T A 5: 67,780,041 (GRCm39) probably null Het
Brd1 A T 15: 88,613,762 (GRCm39) S378T probably damaging Het
Clrn1 T A 3: 58,753,755 (GRCm39) N202I possibly damaging Het
Cspp1 T C 1: 10,145,126 (GRCm39) V308A probably benign Het
Cyp2a5 T C 7: 26,536,543 (GRCm39) L174P probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Fancm T A 12: 65,153,235 (GRCm39) D1230E probably damaging Het
Fbxl17 A T 17: 63,663,823 (GRCm39) N555K probably damaging Het
Fmnl2 A C 2: 52,944,479 (GRCm39) S153R Het
Fras1 G A 5: 96,917,413 (GRCm39) V3478M probably damaging Het
Gnptab T C 10: 88,215,390 (GRCm39) F37S probably damaging Het
Gpr183 T G 14: 122,192,270 (GRCm39) I84L probably damaging Het
Hcn1 A G 13: 118,039,314 (GRCm39) H410R unknown Het
Hmcn1 A G 1: 150,543,631 (GRCm39) V2848A probably damaging Het
Hmcn2 A T 2: 31,272,512 (GRCm39) R1331* probably null Het
Hsd17b4 A C 18: 50,279,591 (GRCm39) N190T probably damaging Het
Itprid2 T C 2: 79,492,689 (GRCm39) S1079P probably damaging Het
Kif14 A G 1: 136,396,033 (GRCm39) D113G probably benign Het
Kmt2e T G 5: 23,702,016 (GRCm39) D881E probably benign Het
Lamb1 T A 12: 31,373,570 (GRCm39) L1481Q probably damaging Het
Limk2 T C 11: 3,306,092 (GRCm39) probably null Het
Luc7l2 T A 6: 38,580,243 (GRCm39) S281T unknown Het
Map3k5 A G 10: 20,007,891 (GRCm39) D1240G probably benign Het
Med13l C A 5: 118,885,472 (GRCm39) T1475K probably benign Het
Med17 G T 9: 15,182,987 (GRCm39) Q353K probably benign Het
Mlh3 A G 12: 85,314,266 (GRCm39) V640A probably benign Het
Mms22l T A 4: 24,517,201 (GRCm39) Y361N probably damaging Het
Mtmr2 T A 9: 13,716,104 (GRCm39) N532K probably benign Het
Mtss1 G A 15: 58,926,935 (GRCm39) T47I probably damaging Het
Mturn T C 6: 54,676,545 (GRCm39) probably null Het
Muc20 A C 16: 32,617,756 (GRCm39) S3A probably benign Het
Nde1 T C 16: 14,008,128 (GRCm39) Y164H unknown Het
Neurl1b A G 17: 26,660,132 (GRCm39) T451A probably benign Het
Or52u1 C A 7: 104,237,505 (GRCm39) Q165K possibly damaging Het
Or8g18 A T 9: 39,148,885 (GRCm39) Y278* probably null Het
Pgap3 G A 11: 98,281,610 (GRCm39) A196V probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scart1 C A 7: 139,802,299 (GRCm39) C209* probably null Het
Sgo2a T G 1: 58,055,696 (GRCm39) F627V probably benign Het
Skor2 A C 18: 76,950,339 (GRCm39) N889T probably benign Het
Slc35f4 A T 14: 49,543,731 (GRCm39) N288K probably benign Het
Slc9b2 T A 3: 135,035,596 (GRCm39) V355E probably null Het
Smarcc2 A G 10: 128,317,597 (GRCm39) E566G possibly damaging Het
Sorcs2 T C 5: 36,200,871 (GRCm39) E559G probably damaging Het
Sphkap T C 1: 83,256,642 (GRCm39) D369G probably benign Het
Stc1 T A 14: 69,269,729 (GRCm39) I103N possibly damaging Het
Stx8 T C 11: 68,094,544 (GRCm39) V219A probably damaging Het
Tg C T 15: 66,636,158 (GRCm39) R582C possibly damaging Het
Tshz2 T A 2: 169,727,192 (GRCm39) L596Q probably benign Het
Tti1 A G 2: 157,849,527 (GRCm39) Y571H probably benign Het
Zbtb40 A G 4: 136,718,829 (GRCm39) I956T probably damaging Het
Zfp990 A C 4: 145,263,532 (GRCm39) N177H possibly damaging Het
Other mutations in Sdcbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Sdcbp APN 4 6,392,953 (GRCm39) nonsense probably null
R0158:Sdcbp UTSW 4 6,379,042 (GRCm39) missense possibly damaging 0.81
R1066:Sdcbp UTSW 4 6,385,120 (GRCm39) missense probably damaging 0.98
R1115:Sdcbp UTSW 4 6,377,143 (GRCm39) critical splice donor site probably null
R1353:Sdcbp UTSW 4 6,381,057 (GRCm39) missense probably damaging 0.99
R2006:Sdcbp UTSW 4 6,386,536 (GRCm39) missense probably benign 0.23
R4879:Sdcbp UTSW 4 6,381,056 (GRCm39) missense possibly damaging 0.93
R4979:Sdcbp UTSW 4 6,378,980 (GRCm39) nonsense probably null
R5034:Sdcbp UTSW 4 6,393,118 (GRCm39) critical splice donor site probably null
R5072:Sdcbp UTSW 4 6,393,019 (GRCm39) missense probably benign 0.07
R6307:Sdcbp UTSW 4 6,385,059 (GRCm39) missense probably benign 0.06
R6329:Sdcbp UTSW 4 6,381,064 (GRCm39) missense probably benign 0.04
R7483:Sdcbp UTSW 4 6,393,089 (GRCm39) missense possibly damaging 0.95
R7665:Sdcbp UTSW 4 6,385,144 (GRCm39) missense probably benign 0.11
R7729:Sdcbp UTSW 4 6,378,985 (GRCm39) missense probably benign 0.06
R7807:Sdcbp UTSW 4 6,393,688 (GRCm39) missense probably damaging 1.00
R8025:Sdcbp UTSW 4 6,393,022 (GRCm39) missense probably benign 0.09
R8941:Sdcbp UTSW 4 6,393,661 (GRCm39) missense probably benign 0.22
R9093:Sdcbp UTSW 4 6,386,709 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCACTGGCATTATTGTGGGAATC -3'
(R):5'- CCCCACTGTAGATGGGTTATTAC -3'

Sequencing Primer
(F):5'- TGTGGGAATCAGACTTCACTAG -3'
(R):5'- AGATGGGTTATTACAGCTAGCC -3'
Posted On 2019-11-12