Incidental Mutation 'IGL01304:Cspg5'
ID 73343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cspg5
Ensembl Gene ENSMUSG00000032482
Gene Name chondroitin sulfate proteoglycan 5
Synonyms CALEB, NGC, neuroglycan C
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # IGL01304
Quality Score
Status
Chromosome 9
Chromosomal Location 110072851-110091644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110085236 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q71M36
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: 57,204,153 (GRCm39) D79E probably benign Het
Aplf A C 6: 87,618,882 (GRCm39) S421A possibly damaging Het
Arnt T G 3: 95,355,696 (GRCm39) D13E probably damaging Het
Asap1 T C 15: 64,184,298 (GRCm39) E45G probably damaging Het
C2cd2l T C 9: 44,230,884 (GRCm39) N101S probably damaging Het
Cby2 T A 14: 75,830,085 (GRCm39) D36V possibly damaging Het
Chmp7 G A 14: 69,956,062 (GRCm39) P402L probably benign Het
Cir1 A T 2: 73,118,068 (GRCm39) probably null Het
Clock A G 5: 76,414,202 (GRCm39) probably null Het
Col18a1 T G 10: 76,911,975 (GRCm39) probably benign Het
Csf2ra G A 19: 61,215,271 (GRCm39) H115Y possibly damaging Het
Dapk2 T C 9: 66,139,139 (GRCm39) probably benign Het
F13a1 T C 13: 37,172,852 (GRCm39) D176G probably benign Het
Fbn2 T C 18: 58,194,817 (GRCm39) E1448G probably damaging Het
Gtf2b C T 3: 142,487,359 (GRCm39) S265L probably benign Het
Hmcn1 C T 1: 150,498,675 (GRCm39) G4068D probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Ksr1 T C 11: 78,918,468 (GRCm39) Q562R probably damaging Het
Lrif1 C T 3: 106,639,049 (GRCm39) P20S probably damaging Het
Mamdc4 T C 2: 25,453,588 (GRCm39) T1194A possibly damaging Het
Med18 C A 4: 132,186,930 (GRCm39) A190S probably damaging Het
Mia2 G A 12: 59,151,324 (GRCm39) E105K probably damaging Het
Mnt T A 11: 74,733,011 (GRCm39) Y48N probably damaging Het
Mpp4 A C 1: 59,188,678 (GRCm39) probably null Het
Or4b1b G A 2: 90,112,425 (GRCm39) P165S possibly damaging Het
Popdc3 T G 10: 45,194,005 (GRCm39) S269A probably benign Het
Ppp6r3 A T 19: 3,517,261 (GRCm39) M662K probably damaging Het
Qser1 C A 2: 104,617,976 (GRCm39) Q945H probably damaging Het
Rad52 A G 6: 119,895,594 (GRCm39) E198G probably damaging Het
Ranbp17 A G 11: 33,216,147 (GRCm39) V867A possibly damaging Het
Rdh16 G T 10: 127,649,365 (GRCm39) A274S probably benign Het
Slco1a5 G T 6: 142,187,876 (GRCm39) Q488K probably benign Het
Snai2 T C 16: 14,524,635 (GRCm39) I47T probably benign Het
Snw1 T C 12: 87,500,685 (GRCm39) D358G possibly damaging Het
Speg T C 1: 75,404,841 (GRCm39) F2878L probably benign Het
Spg11 T C 2: 121,902,771 (GRCm39) Y1386C probably damaging Het
Tgfb2 A C 1: 186,357,670 (GRCm39) I435S probably damaging Het
Ttc9b G A 7: 27,355,410 (GRCm39) D227N probably benign Het
Txndc2 T C 17: 65,945,448 (GRCm39) E243G possibly damaging Het
Usp28 A G 9: 48,938,119 (GRCm39) D563G probably damaging Het
Vmn1r77 T C 7: 11,775,962 (GRCm39) V178A probably damaging Het
Zfp316 A G 5: 143,240,181 (GRCm39) F613L probably benign Het
Zfp870 A T 17: 33,101,980 (GRCm39) C450S possibly damaging Het
Other mutations in Cspg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Cspg5 APN 9 110,075,761 (GRCm39) missense probably benign 0.37
IGL01800:Cspg5 APN 9 110,080,218 (GRCm39) splice site probably benign
IGL01927:Cspg5 APN 9 110,091,152 (GRCm39) missense probably damaging 0.99
IGL02164:Cspg5 APN 9 110,080,104 (GRCm39) missense probably damaging 0.98
IGL02338:Cspg5 APN 9 110,085,335 (GRCm39) missense probably benign 0.04
IGL02421:Cspg5 APN 9 110,076,460 (GRCm39) critical splice donor site probably benign
R0106:Cspg5 UTSW 9 110,075,600 (GRCm39) missense probably damaging 0.96
R0540:Cspg5 UTSW 9 110,076,460 (GRCm39) critical splice donor site probably null
R0905:Cspg5 UTSW 9 110,075,594 (GRCm39) missense probably damaging 0.99
R1772:Cspg5 UTSW 9 110,091,206 (GRCm39) missense probably damaging 1.00
R1959:Cspg5 UTSW 9 110,080,094 (GRCm39) missense probably damaging 1.00
R4356:Cspg5 UTSW 9 110,085,245 (GRCm39) missense probably damaging 1.00
R4771:Cspg5 UTSW 9 110,080,195 (GRCm39) missense probably damaging 1.00
R5345:Cspg5 UTSW 9 110,075,698 (GRCm39) missense probably benign 0.03
R5441:Cspg5 UTSW 9 110,075,711 (GRCm39) missense probably benign
R5474:Cspg5 UTSW 9 110,080,076 (GRCm39) missense probably damaging 1.00
R5946:Cspg5 UTSW 9 110,080,151 (GRCm39) missense probably damaging 0.99
R6890:Cspg5 UTSW 9 110,075,852 (GRCm39) missense probably damaging 0.98
R7028:Cspg5 UTSW 9 110,075,959 (GRCm39) missense possibly damaging 0.85
R7286:Cspg5 UTSW 9 110,076,023 (GRCm39) missense probably damaging 1.00
R7697:Cspg5 UTSW 9 110,085,294 (GRCm39) missense probably damaging 0.99
R7858:Cspg5 UTSW 9 110,080,134 (GRCm39) missense probably damaging 1.00
R8985:Cspg5 UTSW 9 110,085,502 (GRCm39) missense unknown
R9034:Cspg5 UTSW 9 110,080,089 (GRCm39) missense probably damaging 0.99
X0020:Cspg5 UTSW 9 110,076,241 (GRCm39) missense probably damaging 0.96
Z1176:Cspg5 UTSW 9 110,080,118 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07