Incidental Mutation 'IGL02282:Gpc1'
ID 289863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpc1
Ensembl Gene ENSMUSG00000034220
Gene Name glypican 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02282
Quality Score
Status
Chromosome 1
Chromosomal Location 92759367-92787933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92785689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 460 (K460E)
Ref Sequence ENSEMBL: ENSMUSP00000047199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045970]
AlphaFold Q9QZF2
Predicted Effect probably damaging
Transcript: ENSMUST00000045970
AA Change: K460E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047199
Gene: ENSMUSG00000034220
AA Change: K460E

DomainStartEndE-ValueType
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,983,351 (GRCm39) D1545G probably damaging Het
Baiap3 A C 17: 25,468,351 (GRCm39) D234E probably benign Het
Bltp2 C T 11: 78,175,054 (GRCm39) P1730S probably benign Het
Cand1 T A 10: 119,046,614 (GRCm39) T959S probably benign Het
Ctdspl2 A G 2: 121,807,959 (GRCm39) probably benign Het
Cyp2a4 A C 7: 26,008,472 (GRCm39) M205L probably benign Het
Dlx5 G A 6: 6,881,762 (GRCm39) A42V probably damaging Het
Dnah7a A G 1: 53,682,669 (GRCm39) I267T possibly damaging Het
Dnajb6 A G 5: 29,957,416 (GRCm39) D66G probably damaging Het
Fgf8 T C 19: 45,725,529 (GRCm39) H201R possibly damaging Het
Gzme A T 14: 56,355,826 (GRCm39) L162Q probably damaging Het
Ik G A 18: 36,878,697 (GRCm39) G17D probably damaging Het
Il4 G A 11: 53,509,001 (GRCm39) T59M probably damaging Het
Kcnh3 G T 15: 99,125,924 (GRCm39) probably null Het
Mill1 G T 7: 17,997,129 (GRCm39) probably null Het
Npbwr1 A T 1: 5,987,184 (GRCm39) M110K possibly damaging Het
Opalin A T 19: 41,054,943 (GRCm39) S84T probably benign Het
Or10w1 T A 19: 13,632,622 (GRCm39) D276E probably damaging Het
Or7g30 A G 9: 19,352,914 (GRCm39) Y235C probably benign Het
Or8b35 A T 9: 37,904,318 (GRCm39) I177F probably damaging Het
Pcdhb11 T C 18: 37,556,881 (GRCm39) L737P probably damaging Het
Phip G A 9: 82,795,743 (GRCm39) S626L probably benign Het
Ppl T C 16: 4,919,322 (GRCm39) D435G probably damaging Het
Prss37 A G 6: 40,492,317 (GRCm39) V178A possibly damaging Het
Ptpn7 A G 1: 135,062,572 (GRCm39) I104V probably damaging Het
Ptprn A G 1: 75,229,800 (GRCm39) Y700H probably damaging Het
Rab11fip5 T A 6: 85,314,534 (GRCm39) T555S probably damaging Het
Rfwd3 A T 8: 112,020,614 (GRCm39) probably benign Het
Robo1 G A 16: 72,539,026 (GRCm39) R41H probably damaging Het
Rps3 A G 7: 99,128,479 (GRCm39) probably null Het
Ruvbl2 G A 7: 45,074,589 (GRCm39) T183I probably benign Het
Sema4c A T 1: 36,589,284 (GRCm39) probably null Het
Shoc1 A C 4: 59,111,114 (GRCm39) Y53D unknown Het
Taar8b T A 10: 23,967,453 (GRCm39) K247I possibly damaging Het
Tacr3 A T 3: 134,566,834 (GRCm39) I236F probably benign Het
Ttc21b A G 2: 66,022,081 (GRCm39) I1168T probably damaging Het
Ttc9b A T 7: 27,355,336 (GRCm39) D202V probably damaging Het
Vmn2r26 T G 6: 124,038,584 (GRCm39) C720G probably damaging Het
Vmn2r37 A G 7: 9,209,761 (GRCm39) S584P probably benign Het
Wnk2 T A 13: 49,221,601 (GRCm39) D1208V probably damaging Het
Zfp988 T A 4: 147,416,125 (GRCm39) C186* probably null Het
Zp3 A G 5: 136,013,205 (GRCm39) N179S possibly damaging Het
Other mutations in Gpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Gpc1 APN 1 92,784,736 (GRCm39) missense probably damaging 1.00
IGL01697:Gpc1 APN 1 92,786,132 (GRCm39) missense possibly damaging 0.93
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 2015-04-16