Incidental Mutation 'R5800:Sdc2'
ID 447369
Institutional Source Beutler Lab
Gene Symbol Sdc2
Ensembl Gene ENSMUSG00000022261
Gene Name syndecan 2
Synonyms Hspg1, Synd2, fibroglycan, 4833414L08Rik
MMRRC Submission 043389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5800 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 32920869-33034867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33028290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 136 (H136L)
Ref Sequence ENSEMBL: ENSMUSP00000022871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022871]
AlphaFold P43407
Predicted Effect probably benign
Transcript: ENSMUST00000022871
AA Change: H136L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022871
Gene: ENSMUSG00000022261
AA Change: H136L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 47 62 N/A INTRINSIC
4.1m 169 187 3.69e-3 SMART
Meta Mutation Damage Score 0.1408 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (50/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,591 (GRCm39) V540D possibly damaging Het
Adamts8 A T 9: 30,865,778 (GRCm39) D442V probably damaging Het
B3galt9 T C 2: 34,728,654 (GRCm39) F151S possibly damaging Het
Bltp1 A G 3: 37,106,592 (GRCm39) D4974G probably damaging Het
Casp4 G A 9: 5,308,915 (GRCm39) probably null Het
Cfap45 T A 1: 172,366,167 (GRCm39) V30E probably damaging Het
Col6a4 A G 9: 105,957,474 (GRCm39) F117L probably damaging Het
Dnah7c A T 1: 46,686,175 (GRCm39) T1810S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Drosha C A 15: 12,902,733 (GRCm39) A1001D probably damaging Het
Efhc1 G A 1: 21,049,005 (GRCm39) V473I probably benign Het
Ephx2 T C 14: 66,344,751 (GRCm39) K191R probably benign Het
Ero1b T A 13: 12,617,190 (GRCm39) probably null Het
Esyt2 A T 12: 116,333,808 (GRCm39) D837V possibly damaging Het
Fip1l1 T A 5: 74,706,742 (GRCm39) D126E possibly damaging Het
Fyttd1 C T 16: 32,711,658 (GRCm39) R86C probably damaging Het
Gm12888 T A 4: 121,176,625 (GRCm39) T59S probably damaging Het
Gm7353 A T 7: 3,160,168 (GRCm39) noncoding transcript Het
Gpr153 C T 4: 152,364,534 (GRCm39) Q197* probably null Het
Grep1 G A 17: 23,936,966 (GRCm39) P72S probably damaging Het
H2-T23 G T 17: 36,342,496 (GRCm39) probably benign Het
Ighv1-16 T A 12: 114,629,531 (GRCm39) R85S probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kdm1a T A 4: 136,300,381 (GRCm39) probably null Het
Klk1b27 A T 7: 43,705,088 (GRCm39) Q85L probably benign Het
Krt39 A T 11: 99,411,971 (GRCm39) D38E probably benign Het
L1td1 T C 4: 98,621,999 (GRCm39) L187P possibly damaging Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Lyg1 C T 1: 37,986,034 (GRCm39) D176N probably damaging Het
Mctp1 A G 13: 76,836,678 (GRCm39) N82D probably damaging Het
Muc6 T C 7: 141,226,690 (GRCm39) probably benign Het
Nynrin T C 14: 56,108,088 (GRCm39) L1065P probably damaging Het
Or5b118 T C 19: 13,449,260 (GRCm39) S309P probably benign Het
Pcdh7 T A 5: 57,879,567 (GRCm39) S1041T probably damaging Het
Pkd1l1 T A 11: 8,811,302 (GRCm39) M1518L probably benign Het
Prl8a6 G T 13: 27,619,453 (GRCm39) Q90K probably benign Het
Ptcd1 T A 5: 145,096,475 (GRCm39) D206V probably damaging Het
Rap1gap C A 4: 137,447,688 (GRCm39) D478E probably benign Het
Scn5a A G 9: 119,330,732 (GRCm39) Y1269H probably damaging Het
Senp6 A T 9: 80,033,715 (GRCm39) I120F probably damaging Het
Shisa5 G A 9: 108,885,162 (GRCm39) probably null Het
Slc19a1 A G 10: 76,878,103 (GRCm39) S213G probably null Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,150,245 (GRCm39) probably null Het
Tll2 T C 19: 41,093,373 (GRCm39) H481R probably benign Het
Tmc7 A G 7: 118,138,663 (GRCm39) V692A probably benign Het
Tmem234 T C 4: 129,500,924 (GRCm39) probably null Het
Vmn1r237 C G 17: 21,535,069 (GRCm39) T264S probably benign Het
Vmn2r98 A T 17: 19,286,260 (GRCm39) T253S probably benign Het
Zfyve27 T C 19: 42,171,102 (GRCm39) Y191H probably damaging Het
Other mutations in Sdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0510:Sdc2 UTSW 15 33,017,235 (GRCm39) splice site probably benign
R1743:Sdc2 UTSW 15 33,028,224 (GRCm39) missense 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
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'- AAACTGGGACTCACCAACTGG -3'
(R):5'- AAGTAGTCCTAACTTCTCACCTG -3'

Sequencing Primer
(F):5'- GGGACTCACCAACTGGCAAAATAAAC -3'
(R):5'- CCTGTCATTCTGAAATAAAAAGCCTG -3'
Posted On 2016-12-15