Incidental Mutation 'IGL02982:Gpc5'
ID 406598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpc5
Ensembl Gene ENSMUSG00000022112
Gene Name glypican 5
Synonyms A230034F01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 14
Chromosomal Location 115329647-116762591 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115607400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 334 (C334Y)
Ref Sequence ENSEMBL: ENSMUSP00000135085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022707] [ENSMUST00000175665] [ENSMUST00000176912]
AlphaFold Q8CAL5
Predicted Effect probably damaging
Transcript: ENSMUST00000022707
AA Change: C261Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: C261Y

DomainStartEndE-ValueType
Pfam:Glypican 9 572 1.8e-182 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175665
AA Change: C334Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: C334Y

DomainStartEndE-ValueType
Pfam:Glypican 82 480 1.3e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176912
AA Change: C334Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: C334Y

DomainStartEndE-ValueType
Pfam:Glypican 85 642 1.6e-174 PFAM
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]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Gpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Gpc5 APN 14 115,607,436 (GRCm39) missense probably damaging 1.00
IGL01298:Gpc5 APN 14 115,636,600 (GRCm39) missense probably benign 0.14
IGL01359:Gpc5 APN 14 115,607,162 (GRCm39) missense possibly damaging 0.74
IGL02354:Gpc5 APN 14 115,370,699 (GRCm39) nonsense probably null
IGL02361:Gpc5 APN 14 115,370,699 (GRCm39) nonsense probably null
IGL03120:Gpc5 APN 14 115,607,556 (GRCm39) missense possibly damaging 0.64
R0322:Gpc5 UTSW 14 115,636,563 (GRCm39) missense probably benign 0.05
R0396:Gpc5 UTSW 14 115,665,620 (GRCm39) missense possibly damaging 0.91
R0555:Gpc5 UTSW 14 115,789,740 (GRCm39) missense probably damaging 0.98
R0629:Gpc5 UTSW 14 115,789,651 (GRCm39) missense possibly damaging 0.94
R1536:Gpc5 UTSW 14 115,636,662 (GRCm39) missense probably benign 0.09
R1660:Gpc5 UTSW 14 115,636,691 (GRCm39) missense probably benign 0.12
R1676:Gpc5 UTSW 14 115,607,510 (GRCm39) missense probably damaging 1.00
R2328:Gpc5 UTSW 14 116,025,591 (GRCm39) missense probably damaging 0.99
R3522:Gpc5 UTSW 14 116,761,747 (GRCm39) missense probably benign 0.00
R3776:Gpc5 UTSW 14 115,607,472 (GRCm39) missense probably benign 0.05
R3885:Gpc5 UTSW 14 115,607,472 (GRCm39) missense probably benign 0.05
R3889:Gpc5 UTSW 14 115,607,472 (GRCm39) missense probably benign 0.05
R3893:Gpc5 UTSW 14 115,607,472 (GRCm39) missense probably benign 0.05
R4041:Gpc5 UTSW 14 115,370,628 (GRCm39) missense probably damaging 1.00
R4517:Gpc5 UTSW 14 115,789,651 (GRCm39) missense possibly damaging 0.94
R5068:Gpc5 UTSW 14 115,654,676 (GRCm39) makesense probably null
R5639:Gpc5 UTSW 14 115,330,179 (GRCm39) missense probably benign 0.13
R5730:Gpc5 UTSW 14 116,025,726 (GRCm39) missense possibly damaging 0.73
R5944:Gpc5 UTSW 14 115,607,250 (GRCm39) missense probably benign 0.24
R6351:Gpc5 UTSW 14 115,636,612 (GRCm39) missense probably benign 0.01
R6557:Gpc5 UTSW 14 115,329,966 (GRCm39) unclassified probably benign
R6657:Gpc5 UTSW 14 115,607,610 (GRCm39) missense probably benign 0.01
R6714:Gpc5 UTSW 14 115,789,715 (GRCm39) nonsense probably null
R6751:Gpc5 UTSW 14 115,607,363 (GRCm39) missense probably benign 0.00
R7057:Gpc5 UTSW 14 115,370,654 (GRCm39) missense possibly damaging 0.64
R7142:Gpc5 UTSW 14 115,654,615 (GRCm39) missense probably benign 0.01
R7225:Gpc5 UTSW 14 115,789,710 (GRCm39) missense probably damaging 1.00
R7544:Gpc5 UTSW 14 115,665,585 (GRCm39) missense probably damaging 1.00
R7658:Gpc5 UTSW 14 115,665,620 (GRCm39) missense possibly damaging 0.91
R7695:Gpc5 UTSW 14 115,330,026 (GRCm39) missense unknown
R7785:Gpc5 UTSW 14 115,654,632 (GRCm39) missense probably benign 0.00
R8116:Gpc5 UTSW 14 115,636,637 (GRCm39) missense probably damaging 0.98
R8303:Gpc5 UTSW 14 115,665,667 (GRCm39) missense probably benign 0.01
R8983:Gpc5 UTSW 14 115,330,118 (GRCm39) missense unknown
RF001:Gpc5 UTSW 14 115,654,590 (GRCm39) missense probably benign 0.41
RF022:Gpc5 UTSW 14 115,789,688 (GRCm39) missense probably damaging 1.00
Z1176:Gpc5 UTSW 14 115,607,376 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02