Incidental Mutation 'R5639:Gpc5'
ID 440564
Institutional Source Beutler Lab
Gene Symbol Gpc5
Ensembl Gene ENSMUSG00000022112
Gene Name glypican 5
Synonyms A230034F01Rik
MMRRC Submission 043288-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5639 (G1)
Quality Score 217
Status Not validated
Chromosome 14
Chromosomal Location 115329647-116762591 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115330179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 114 (L114P)
Ref Sequence ENSEMBL: ENSMUSP00000135857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022707] [ENSMUST00000175665] [ENSMUST00000176912]
AlphaFold Q8CAL5
Predicted Effect probably benign
Transcript: ENSMUST00000022707
AA Change: L41P

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: L41P

DomainStartEndE-ValueType
Pfam:Glypican 9 572 1.8e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175665
AA Change: L114P

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: L114P

DomainStartEndE-ValueType
Pfam:Glypican 82 480 1.3e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176912
AA Change: L114P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: L114P

DomainStartEndE-ValueType
Pfam:Glypican 85 642 1.6e-174 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176993
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,769,866 (GRCm39) Y322H probably benign Het
Aldh1a1 C A 19: 20,600,786 (GRCm39) T201K probably damaging Het
Ankrd26 T C 6: 118,516,685 (GRCm39) E493G possibly damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Bicc1 A T 10: 70,776,350 (GRCm39) V701E probably damaging Het
Car11 T A 7: 45,352,045 (GRCm39) probably null Het
Ccn1 A C 3: 145,354,452 (GRCm39) V153G probably damaging Het
Celsr1 C G 15: 85,914,968 (GRCm39) V1002L probably damaging Het
Clpx T A 9: 65,237,112 (GRCm39) S597T probably benign Het
Cplx3 A T 9: 57,519,149 (GRCm39) F266I probably benign Het
Dmpk A G 7: 18,826,525 (GRCm39) M545V probably benign Het
Dnah7c C G 1: 46,778,828 (GRCm39) D3139E probably benign Het
Drd5 T A 5: 38,477,178 (GRCm39) V57D possibly damaging Het
Epc2 A G 2: 49,341,903 (GRCm39) N29S possibly damaging Het
Ercc3 T C 18: 32,398,767 (GRCm39) V682A probably damaging Het
Fam186a T C 15: 99,844,931 (GRCm39) K438E unknown Het
Farp1 T A 14: 121,512,794 (GRCm39) I764N probably damaging Het
Flvcr2 A T 12: 85,794,250 (GRCm39) I209F probably benign Het
Fndc3b C T 3: 27,480,302 (GRCm39) V1065M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gp6 C A 7: 4,397,130 (GRCm39) D102Y probably damaging Het
Kcnq3 T A 15: 65,869,599 (GRCm39) E613V probably damaging Het
Krt74 T G 15: 101,665,195 (GRCm39) noncoding transcript Het
Lipe T C 7: 25,082,750 (GRCm39) T801A probably benign Het
Lrp1 A G 10: 127,429,708 (GRCm39) V454A probably damaging Het
Lsm14a T C 7: 34,052,935 (GRCm39) D338G probably damaging Het
Mctp1 T C 13: 77,172,902 (GRCm39) silent Het
Nlrp4a G A 7: 26,156,455 (GRCm39) A727T probably benign Het
Nrgn T C 9: 37,457,344 (GRCm39) S48G probably benign Het
Oga A G 19: 45,765,438 (GRCm39) I123T probably damaging Het
Or10k2 T C 8: 84,267,973 (GRCm39) S67P probably damaging Het
Or4a73 T C 2: 89,421,069 (GRCm39) Y130C probably damaging Het
Or51f23 A G 7: 102,453,200 (GRCm39) S172G probably benign Het
Pdia6 A G 12: 17,328,594 (GRCm39) E183G probably benign Het
Pign T A 1: 105,517,040 (GRCm39) I529F probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Samm50 T G 15: 84,098,329 (GRCm39) I456S probably benign Het
Sesn1 A G 10: 41,687,267 (GRCm39) R84G probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Spag17 G T 3: 99,963,482 (GRCm39) D1067Y probably damaging Het
Sptan1 C T 2: 29,881,005 (GRCm39) Q425* probably null Het
Srrm4 T A 5: 116,729,418 (GRCm39) I36F unknown Het
Tas1r2 A T 4: 139,387,107 (GRCm39) S189C probably damaging Het
Tep1 A G 14: 51,091,062 (GRCm39) V690A possibly damaging Het
Trmo T C 4: 46,382,073 (GRCm39) K348R probably benign Het
Trmu T A 15: 85,766,899 (GRCm39) M36K probably damaging Het
Ubr4 A G 4: 139,179,959 (GRCm39) T3380A possibly damaging Het
Unc79 A C 12: 103,137,831 (GRCm39) T2425P probably damaging Het
Vmn2r12 G A 5: 109,240,666 (GRCm39) T149I probably benign Het
Vwa3a A C 7: 120,389,366 (GRCm39) K68T probably damaging Het
Yif1a T C 19: 5,138,778 (GRCm39) probably null Het
Zbtb44 A T 9: 30,965,348 (GRCm39) T253S probably damaging Het
Zdhhc3 T C 9: 122,929,410 (GRCm39) Y75C probably damaging Het
Zfp189 T A 4: 49,530,153 (GRCm39) F419I probably benign Het
Zfp663 T C 2: 165,194,929 (GRCm39) D430G probably benign Het
Zfp709 T G 8: 72,643,835 (GRCm39) probably null 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
IGL02982:Gpc5 APN 14 115,607,400 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCGAACCCTTGCCAGATTC -3'
(R):5'- GTGAGCACACCAAGCATTCC -3'

Sequencing Primer
(F):5'- TTGCCAGATTCCGCCACG -3'
(R):5'- ACCCCGGTTCACCTACTGG -3'
Posted On 2016-11-08