Incidental Mutation 'R0942:Gpc1'
ID 82737
Institutional Source Beutler Lab
Gene Symbol Gpc1
Ensembl Gene ENSMUSG00000034220
Gene Name glypican 1
Synonyms
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0942 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 92759367-92787933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92785031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 358 (R358H)
Ref Sequence ENSEMBL: ENSMUSP00000047199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045970]
AlphaFold Q9QZF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000045970
AA Change: R358H

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047199
Gene: ENSMUSG00000034220
AA Change: R358H

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGACCTATACCTGTGACTGCTG -3'
(R):5'- TTGGCCTCAGAGACCTGTTGGATG -3'

Sequencing Primer
(F):5'- AAGGTGTgtgggggctg -3'
(R):5'- AGACCTGTTGGATGGCAGTC -3'
Posted On 2013-11-08