Incidental Mutation 'IGL01304:Cspg5'
ID73343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cspg5
Ensembl Gene ENSMUSG00000032482
Gene Namechondroitin sulfate proteoglycan 5
SynonymsCALEB, neuroglycan C, NGC
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL01304
Quality Score
Status
Chromosome9
Chromosomal Location110243783-110262576 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110256168 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 469 (L469H)
Ref Sequence ENSEMBL: ENSMUSP00000143005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035058] [ENSMUST00000196060] [ENSMUST00000197850] [ENSMUST00000199736]
Predicted Effect probably damaging
Transcript: ENSMUST00000035058
AA Change: L469H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: L469H

DomainStartEndE-ValueType
low complexity region 4 31 N/A INTRINSIC
Pfam:Chon_Sulph_att 33 278 2.5e-123 PFAM
low complexity region 290 302 N/A INTRINSIC
EGF 373 413 1.99e1 SMART
transmembrane domain 421 443 N/A INTRINSIC
Pfam:Neural_ProG_Cyt 447 565 5.8e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196060
AA Change: L469H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
AA Change: L469H

DomainStartEndE-ValueType
Pfam:Chon_Sulph_att 31 278 1e-126 PFAM
low complexity region 290 302 N/A INTRINSIC
EGF 373 413 1.99e1 SMART
transmembrane domain 421 443 N/A INTRINSIC
Pfam:Neural_ProG_Cyt 447 487 8.9e-26 PFAM
Pfam:Neural_ProG_Cyt 486 539 1.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197850
AA Change: L469H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: L469H

DomainStartEndE-ValueType
Pfam:Chon_Sulph_att 31 278 1.1e-126 PFAM
low complexity region 290 302 N/A INTRINSIC
EGF 373 413 1.99e1 SMART
transmembrane domain 421 443 N/A INTRINSIC
Pfam:Neural_ProG_Cyt 447 520 1.5e-45 PFAM
low complexity region 524 539 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000199736
AA Change: L388H

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
AA Change: L388H

DomainStartEndE-ValueType
Pfam:Chon_Sulph_att 1 197 1.6e-99 PFAM
low complexity region 209 221 N/A INTRINSIC
EGF 292 332 9.5e-2 SMART
transmembrane domain 340 362 N/A INTRINSIC
Pfam:Neural_ProG_Cyt 366 406 1.2e-22 PFAM
Pfam:Neural_ProG_Cyt 405 458 1.7e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200140
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a chondroitin sulfate proteoglycan. The encoded protein has been termed a 'part-time' proteoglycan, as chondroitin sulfate chains appear to be attached to the protein in the developing but not the adult cerebellum and retina. It is thought that this protein plays roles in dendrite branching and synapse formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display decreased spontaneous postsynaptic currents, increased paired-pulse ratios, and reduced long term depression during early postnatal developmental stages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Cspg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Cspg5 APN 9 110246693 missense probably benign 0.37
IGL01800:Cspg5 APN 9 110251150 splice site probably benign
IGL01927:Cspg5 APN 9 110262084 missense probably damaging 0.99
IGL02164:Cspg5 APN 9 110251036 missense probably damaging 0.98
IGL02338:Cspg5 APN 9 110256267 missense probably benign 0.04
IGL02421:Cspg5 APN 9 110247392 critical splice donor site probably benign
R0106:Cspg5 UTSW 9 110246532 missense probably damaging 0.96
R0540:Cspg5 UTSW 9 110247392 critical splice donor site probably null
R0905:Cspg5 UTSW 9 110246526 missense probably damaging 0.99
R1772:Cspg5 UTSW 9 110262138 missense probably damaging 1.00
R1959:Cspg5 UTSW 9 110251026 missense probably damaging 1.00
R4356:Cspg5 UTSW 9 110256177 missense probably damaging 1.00
R4771:Cspg5 UTSW 9 110251127 missense probably damaging 1.00
R5345:Cspg5 UTSW 9 110246630 missense probably benign 0.03
R5441:Cspg5 UTSW 9 110246643 missense probably benign
R5474:Cspg5 UTSW 9 110251008 missense probably damaging 1.00
R5946:Cspg5 UTSW 9 110251083 missense probably damaging 0.99
R6890:Cspg5 UTSW 9 110246784 missense probably damaging 0.98
R7028:Cspg5 UTSW 9 110246891 missense possibly damaging 0.85
R7286:Cspg5 UTSW 9 110246955 missense probably damaging 1.00
R7697:Cspg5 UTSW 9 110256226 missense probably damaging 0.99
R7858:Cspg5 UTSW 9 110251066 missense probably damaging 1.00
R7941:Cspg5 UTSW 9 110251066 missense probably damaging 1.00
X0020:Cspg5 UTSW 9 110247173 missense probably damaging 0.96
Z1176:Cspg5 UTSW 9 110251050 missense probably damaging 1.00
Posted On2013-10-07