Incidental Mutation 'IGL01830:Sdcbp2'
ID 154740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdcbp2
Ensembl Gene ENSMUSG00000027456
Gene Name syndecan binding protein (syntenin) 2
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # IGL01830
Quality Score
Status
Chromosome 2
Chromosomal Location 151414542-151431925 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151431494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 289 (I289N)
Ref Sequence ENSEMBL: ENSMUSP00000028950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028950] [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877]
AlphaFold Q99JZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000028950
AA Change: I289N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456
AA Change: I289N

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
PDZ 117 188 2.13e-9 SMART
PDZ 201 267 1.99e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028951
SMART Domains Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:Syntaphilin 50 367 9.3e-141 PFAM
low complexity region 436 449 N/A INTRINSIC
low complexity region 466 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094456
SMART Domains Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457

DomainStartEndE-ValueType
Pfam:Syntaphilin 17 334 7.7e-141 PFAM
low complexity region 403 416 N/A INTRINSIC
low complexity region 433 443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109875
SMART Domains Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:Syntaphilin 51 366 1.7e-145 PFAM
low complexity region 436 449 N/A INTRINSIC
low complexity region 466 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109877
SMART Domains Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457

DomainStartEndE-ValueType
Pfam:Syntaphilin 2 298 3.2e-125 PFAM
low complexity region 367 380 N/A INTRINSIC
low complexity region 397 407 N/A INTRINSIC
Coding Region Coverage
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,717,779 (GRCm39) P252Q probably damaging Het
Anks4b T A 7: 119,773,219 (GRCm39) N26K probably damaging Het
Arrdc5 C T 17: 56,601,652 (GRCm39) V158I probably damaging Het
Catsper2 T C 2: 121,237,843 (GRCm39) D179G probably damaging Het
Cd44 T C 2: 102,672,603 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,888,925 (GRCm39) D231E possibly damaging Het
Cep57l1 C T 10: 41,604,649 (GRCm39) C160Y probably benign Het
Chek2 T A 5: 111,021,374 (GRCm39) L528Q probably benign Het
Ciita T C 16: 10,338,915 (GRCm39) L973P probably damaging Het
Dock2 A T 11: 34,582,744 (GRCm39) L637* probably null Het
Fsip2 A C 2: 82,815,273 (GRCm39) I3669L probably benign Het
Gapvd1 A G 2: 34,578,968 (GRCm39) V1218A probably benign Het
Gip T C 11: 95,919,550 (GRCm39) L91S possibly damaging Het
Gp2 T C 7: 119,050,765 (GRCm39) D322G probably damaging Het
Ift172 A G 5: 31,442,636 (GRCm39) V177A probably damaging Het
Kng2 T C 16: 22,806,801 (GRCm39) D466G probably damaging Het
Lpar5 G A 6: 125,058,785 (GRCm39) A169T probably benign Het
Med13 C T 11: 86,179,754 (GRCm39) probably benign Het
Meiob T A 17: 25,054,105 (GRCm39) C391S probably benign Het
Mgat5 A G 1: 127,339,869 (GRCm39) T417A probably damaging Het
Myo1b A T 1: 51,836,624 (GRCm39) L279* probably null Het
Myo1g T A 11: 6,464,522 (GRCm39) K513* probably null Het
Nxpe2 A T 9: 48,237,794 (GRCm39) S154T probably damaging Het
Ogn C T 13: 49,762,723 (GRCm39) Q22* probably null Het
Or4c12 A G 2: 89,773,775 (GRCm39) L228S probably benign Het
Pacs2 A T 12: 113,020,574 (GRCm39) K316* probably null Het
Pelo T A 13: 115,225,131 (GRCm39) I365F probably damaging Het
Phf3 G A 1: 30,853,148 (GRCm39) Q1021* probably null Het
Pik3r4 A G 9: 105,522,154 (GRCm39) D240G probably damaging Het
Pknox1 T C 17: 31,814,284 (GRCm39) M203T probably benign Het
Pld1 T C 3: 28,102,153 (GRCm39) probably benign Het
Rabgef1 G T 5: 130,240,907 (GRCm39) C342F possibly damaging Het
Rbm19 A C 5: 120,262,760 (GRCm39) K307T possibly damaging Het
Slc5a12 G A 2: 110,428,151 (GRCm39) G69R probably damaging Het
Spag1 C A 15: 36,221,705 (GRCm39) S599R probably benign Het
Ubr4 A T 4: 139,199,811 (GRCm39) D4565V probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn1r225 T C 17: 20,722,717 (GRCm39) S53P probably damaging Het
Xrcc1 T A 7: 24,272,767 (GRCm39) probably benign Het
Other mutations in Sdcbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-02-04