Incidental Mutation 'R2205:Gpc3'
ID 239015
Institutional Source Beutler Lab
Gene Symbol Gpc3
Ensembl Gene ENSMUSG00000055653
Gene Name glypican 3
Synonyms OCI-5
MMRRC Submission 040207-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2205 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 51361303-51702827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51486083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 344 (I344F)
Ref Sequence ENSEMBL: ENSMUSP00000110507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069360] [ENSMUST00000114857]
AlphaFold Q8CFZ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000069360
AA Change: I344F

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064131
Gene: ENSMUSG00000055653
AA Change: I344F

DomainStartEndE-ValueType
Pfam:Glypican 14 577 1.4e-182 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114857
AA Change: I344F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110507
Gene: ENSMUSG00000055653
AA Change: I344F

DomainStartEndE-ValueType
Pfam:Glypican 10 430 4.6e-162 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
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. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: A gene trap mutation exibits neonatal lethality, embryonic overgrowth and kidney cysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 C G 11: 48,910,149 (GRCm39) L761F probably damaging Het
Abca14 T C 7: 119,846,503 (GRCm39) S652P probably damaging Het
Acsl6 G A 11: 54,214,833 (GRCm39) G75S probably damaging Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ahdc1 A G 4: 132,793,220 (GRCm39) E1487G possibly damaging Het
Aknad1 A G 3: 108,664,609 (GRCm39) D406G probably damaging Het
Albfm1 A G 5: 90,717,421 (GRCm39) T201A possibly damaging Het
Ankrd2 C A 19: 42,032,558 (GRCm39) A273E probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Arhgap35 A T 7: 16,231,950 (GRCm39) probably null Het
Bag6 G A 17: 35,363,583 (GRCm39) G751R probably damaging Het
Brat1 G A 5: 140,690,888 (GRCm39) probably benign Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Catsperg1 G A 7: 28,884,671 (GRCm39) Q922* probably null Het
Cfap221 T G 1: 119,863,834 (GRCm39) Y570S possibly damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cpd A G 11: 76,693,070 (GRCm39) Y739H probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dhrs7 A T 12: 72,703,144 (GRCm39) V188E probably damaging Het
Dpp9 A C 17: 56,506,287 (GRCm39) I411S possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fitm2 G A 2: 163,314,516 (GRCm39) probably benign Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Gpatch1 C A 7: 34,991,197 (GRCm39) D616Y probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Hoxb3 T A 11: 96,236,494 (GRCm39) S191T probably benign Het
Ifit1bl1 C T 19: 34,571,741 (GRCm39) E239K probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Irak1 G A X: 73,060,744 (GRCm39) T193I probably damaging Het
Megf8 C T 7: 25,041,173 (GRCm39) T1134I probably benign Het
Mtrex T C 13: 113,035,424 (GRCm39) I510V probably benign Het
Nipsnap1 C A 11: 4,839,974 (GRCm39) H232N possibly damaging Het
Nme4 A T 17: 26,311,114 (GRCm39) H150Q possibly damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
P2rx7 T A 5: 122,819,164 (GRCm39) Y529N probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pofut1 T A 2: 153,103,167 (GRCm39) M267K probably damaging Het
Rad54l2 T C 9: 106,594,997 (GRCm39) D320G probably damaging Het
Rdm1 C A 11: 101,525,629 (GRCm39) A225E probably damaging Het
Samm50 G A 15: 84,086,515 (GRCm39) A245T probably benign Het
Scfd2 A T 5: 74,386,028 (GRCm39) M597K possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Ssh3 A G 19: 4,319,101 (GRCm39) L3P probably damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Tbc1d31 A G 15: 57,816,916 (GRCm39) D717G probably benign Het
Timd5 A G 11: 46,419,394 (GRCm39) N70S probably benign Het
Tma7 C A 9: 108,911,294 (GRCm39) probably benign Het
Tmc1 A T 19: 20,918,269 (GRCm39) L2M probably benign Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Tns3 T C 11: 8,481,719 (GRCm39) Y211C probably damaging Het
Ttc21b C T 2: 66,065,467 (GRCm39) G436S possibly damaging Het
Ttn T C 2: 76,681,907 (GRCm39) probably benign Het
Ube3b G A 5: 114,527,135 (GRCm39) V118M probably damaging Het
Usp34 A G 11: 23,335,147 (GRCm39) T1210A probably damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Wdr62 T A 7: 29,957,574 (GRCm39) probably null Het
Ywhah A G 5: 33,184,484 (GRCm39) N229S probably damaging Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfyve27 C A 19: 42,171,885 (GRCm39) A139D probably damaging Het
Zmat1 A G X: 133,873,861 (GRCm39) L476P possibly damaging Het
Zswim4 G T 8: 84,952,498 (GRCm39) T488N possibly damaging Het
Other mutations in Gpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03179:Gpc3 APN X 51,486,090 (GRCm39) splice site probably benign
R2202:Gpc3 UTSW X 51,486,083 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCTAATTGTATGCTGAAATGGCG -3'
(R):5'- ACTCTTCATCCATCGAGTGC -3'

Sequencing Primer
(F):5'- CTGAAATGGCGGCGGCG -3'
(R):5'- ATCCATCGAGTGCCTTCCC -3'
Posted On 2014-10-02