Incidental Mutation 'R5270:Sdcbp2'
ID 400163
Institutional Source Beutler Lab
Gene Symbol Sdcbp2
Ensembl Gene ENSMUSG00000027456
Gene Name syndecan binding protein (syntenin) 2
Synonyms
MMRRC Submission 042835-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.646) question?
Stock # R5270 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151414542-151431925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151426812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 70 (I70V)
Ref Sequence ENSEMBL: ENSMUSP00000028950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028950]
AlphaFold Q99JZ0
Predicted Effect probably benign
Transcript: ENSMUST00000028950
AA Change: I70V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456
AA Change: I70V

DomainStartEndE-ValueType
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 0.0696 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,282,650 (GRCm39) V585A possibly damaging Het
Adam6a A T 12: 113,507,747 (GRCm39) H40L possibly damaging Het
Adamts20 G A 15: 94,180,400 (GRCm39) P1752S probably benign Het
Atp5if1 A G 4: 132,260,611 (GRCm39) F27L probably damaging Het
B230104I21Rik A G 4: 154,434,050 (GRCm39) probably benign Het
Ciz1 C A 2: 32,264,511 (GRCm39) probably null Het
Crb1 T A 1: 139,164,602 (GRCm39) Y1174F probably damaging Het
Csf2rb2 A T 15: 78,176,182 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,918,312 (GRCm39) M433K probably benign Het
Dock4 A G 12: 40,783,270 (GRCm39) I735V probably benign Het
Dpp6 C T 5: 27,839,532 (GRCm39) S349L probably damaging Het
Epg5 T A 18: 78,026,778 (GRCm39) N1256K possibly damaging Het
Epha4 A G 1: 77,483,244 (GRCm39) V255A probably damaging Het
Gabrb1 A T 5: 72,265,669 (GRCm39) D155V probably damaging Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Hcrt T C 11: 100,652,823 (GRCm39) T64A probably damaging Het
Henmt1 G A 3: 108,867,530 (GRCm39) R355H probably benign Het
Hrh1 C A 6: 114,458,179 (GRCm39) R487S possibly damaging Het
Ints2 T C 11: 86,106,621 (GRCm39) S930G probably damaging Het
Irs2 G A 8: 11,056,678 (GRCm39) Q585* probably null Het
Kcns1 C A 2: 164,010,249 (GRCm39) R170L probably benign Het
Kdm3b T C 18: 34,960,467 (GRCm39) S1351P probably damaging Het
Ly9 T C 1: 171,428,730 (GRCm39) T297A probably damaging Het
M6pr G A 6: 122,292,048 (GRCm39) D127N possibly damaging Het
Macir T C 1: 97,573,720 (GRCm39) Q115R probably damaging Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Nit2 G A 16: 56,977,494 (GRCm39) P179S probably damaging Het
Per1 T C 11: 68,994,424 (GRCm39) M516T probably benign Het
Pkdrej A T 15: 85,702,528 (GRCm39) I1136N probably damaging Het
Pramel27 A G 4: 143,578,468 (GRCm39) M243V probably damaging Het
Prdm9 G T 17: 15,773,625 (GRCm39) T257K probably benign Het
Prkdc T C 16: 15,552,819 (GRCm39) L2085P probably damaging Het
Rasgrf1 A C 9: 89,908,747 (GRCm39) E1240D probably benign Het
Rrh T C 3: 129,606,998 (GRCm39) I142V probably benign Het
Saal1 G T 7: 46,351,157 (GRCm39) probably benign Het
Skida1 C A 2: 18,052,460 (GRCm39) A231S probably benign Het
Smtnl2 T A 11: 72,290,743 (GRCm39) T401S probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spag4 G T 2: 155,907,853 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,283 (GRCm39) M179V probably benign Het
Tm9sf1 G T 14: 55,873,938 (GRCm39) T520N probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Vmn1r47 A T 6: 89,999,525 (GRCm39) Q219L probably damaging Het
Vmn2r104 A T 17: 20,258,528 (GRCm39) C539S probably damaging Het
Wdr17 G T 8: 55,096,221 (GRCm39) S1024R probably benign Het
Zc3h4 A G 7: 16,168,440 (GRCm39) T850A unknown Het
Zfa-ps A G 10: 52,419,552 (GRCm39) noncoding transcript Het
Zfp146 G T 7: 29,861,900 (GRCm39) N47K probably benign Het
Zfp353-ps G T 8: 42,534,572 (GRCm39) noncoding transcript Het
Zfp607a A T 7: 27,577,730 (GRCm39) K267* probably null Het
Other mutations in Sdcbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0102:Sdcbp2 UTSW 2 151,425,884 (GRCm39) missense probably benign
R0105:Sdcbp2 UTSW 2 151,431,478 (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'- TTCAAGCCTCGTCAGAGCTG -3'
(R):5'- ATGAGTGCATCTGCTCCTAATTACTG -3'

Sequencing Primer
(F):5'- CAGAGTAGCCTTGGCGAATTTCC -3'
(R):5'- CTGGTATAAAGAATGGCTGGGTTGAC -3'
Posted On 2016-07-06