Incidental Mutation 'IGL01697:Gpc1'
ID 104311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpc1
Ensembl Gene ENSMUSG00000034220
Gene Name glypican 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01697
Quality Score
Chromosome 1
Chromosomal Location 92759367-92787933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 92786132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 507 (S507F)
Ref Sequence ENSEMBL: ENSMUSP00000047199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045970]
AlphaFold Q9QZF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000045970
AA Change: S507F

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047199
Gene: ENSMUSG00000034220
AA Change: S507F

Pfam:Glypican 11 553 6.2e-228 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190677
Predicted Effect probably benign
Transcript: ENSMUST00000212504
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,203,613 (GRCm39) probably benign Het
Arid2 A C 15: 96,259,453 (GRCm39) probably null Het
Cadm1 C A 9: 47,761,622 (GRCm39) D435E probably damaging Het
Dagla A G 19: 10,248,562 (GRCm39) F33L probably benign Het
Edrf1 A G 7: 133,245,459 (GRCm39) H199R probably benign Het
F5 T A 1: 164,021,621 (GRCm39) N1365K probably benign Het
Gipc2 T G 3: 151,843,245 (GRCm39) I131L probably benign Het
Grid1 A G 14: 35,031,214 (GRCm39) D269G probably benign Het
Ighv12-3 A T 12: 114,330,573 (GRCm39) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm39) H129R possibly damaging Het
Lipo3 A T 19: 33,536,965 (GRCm39) C252S probably damaging Het
Mast4 A C 13: 102,904,401 (GRCm39) N645K probably damaging Het
Megf9 T A 4: 70,351,709 (GRCm39) T471S possibly damaging Het
Mmrn1 A G 6: 60,953,477 (GRCm39) D586G possibly damaging Het
Ninl A T 2: 150,781,867 (GRCm39) L1206Q probably damaging Het
Oog2 T A 4: 143,921,754 (GRCm39) N221K possibly damaging Het
Or13a17 T C 7: 140,271,565 (GRCm39) V249A possibly damaging Het
Or5b96 T A 19: 12,867,831 (GRCm39) T37S probably benign Het
Or6c8b C A 10: 128,882,371 (GRCm39) C187F probably damaging Het
Pik3ap1 G A 19: 41,313,018 (GRCm39) A365V probably damaging Het
Ppwd1 T C 13: 104,356,972 (GRCm39) E181G probably benign Het
Scaf11 A C 15: 96,321,504 (GRCm39) probably benign Het
Skic3 C T 13: 76,276,852 (GRCm39) L479F probably benign Het
Skint7 T A 4: 111,837,654 (GRCm39) probably benign Het
Sox14 T C 9: 99,757,716 (GRCm39) I8V probably benign Het
Spata31f3 T A 4: 42,874,163 (GRCm39) M2L probably benign Het
Stim1 A T 7: 102,075,176 (GRCm39) probably benign Het
Ttll3 T C 6: 113,376,690 (GRCm39) S357P probably benign Het
Vmn1r178 T A 7: 23,593,114 (GRCm39) I54N probably damaging Het
Zdhhc2 T C 8: 40,920,460 (GRCm39) probably benign Het
Other mutations in Gpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Gpc1 APN 1 92,784,736 (GRCm39) missense probably damaging 1.00
IGL02282:Gpc1 APN 1 92,785,689 (GRCm39) missense probably damaging 1.00
IGL02930:Gpc1 APN 1 92,785,021 (GRCm39) nonsense probably null
IGL03160:Gpc1 APN 1 92,785,579 (GRCm39) missense probably damaging 1.00
PIT4514001:Gpc1 UTSW 1 92,785,279 (GRCm39) missense probably benign 0.05
R0115:Gpc1 UTSW 1 92,785,221 (GRCm39) missense probably damaging 1.00
R0383:Gpc1 UTSW 1 92,782,705 (GRCm39) missense probably damaging 1.00
R0399:Gpc1 UTSW 1 92,785,031 (GRCm39) missense possibly damaging 0.72
R0938:Gpc1 UTSW 1 92,785,031 (GRCm39) missense possibly damaging 0.72
R0941:Gpc1 UTSW 1 92,785,031 (GRCm39) missense possibly damaging 0.72
R0942:Gpc1 UTSW 1 92,785,031 (GRCm39) missense possibly damaging 0.72
R2483:Gpc1 UTSW 1 92,783,660 (GRCm39) missense probably benign 0.35
R3749:Gpc1 UTSW 1 92,785,304 (GRCm39) nonsense probably null
R5033:Gpc1 UTSW 1 92,784,751 (GRCm39) missense probably damaging 0.97
R5154:Gpc1 UTSW 1 92,784,751 (GRCm39) missense probably damaging 0.97
R5362:Gpc1 UTSW 1 92,782,615 (GRCm39) missense probably benign 0.00
R5626:Gpc1 UTSW 1 92,784,841 (GRCm39) critical splice donor site probably null
R5693:Gpc1 UTSW 1 92,785,621 (GRCm39) missense probably damaging 1.00
R7268:Gpc1 UTSW 1 92,786,093 (GRCm39) missense possibly damaging 0.76
R7790:Gpc1 UTSW 1 92,781,171 (GRCm39) missense probably benign
R7875:Gpc1 UTSW 1 92,782,970 (GRCm39) critical splice donor site probably null
R9225:Gpc1 UTSW 1 92,783,742 (GRCm39) missense probably damaging 1.00
X0020:Gpc1 UTSW 1 92,782,703 (GRCm39) missense probably benign 0.00
Z1177:Gpc1 UTSW 1 92,785,208 (GRCm39) missense probably damaging 0.96
Posted On 2014-01-21