Incidental Mutation 'R0611:Gpc6'
ID 54756
Institutional Source Beutler Lab
Gene Symbol Gpc6
Ensembl Gene ENSMUSG00000058571
Gene Name glypican 6
Synonyms 6720429C22Rik
MMRRC Submission 038800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R0611 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 117162727-118213956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118212430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 534 (F534V)
Ref Sequence ENSEMBL: ENSMUSP00000077893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078849] [ENSMUST00000088483] [ENSMUST00000125435]
AlphaFold Q9R087
Predicted Effect probably null
Transcript: ENSMUST00000078849
AA Change: F534V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571
AA Change: F534V

DomainStartEndE-ValueType
Pfam:Glypican 7 554 9.3e-247 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088483
AA Change: F534V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571
AA Change: F534V

DomainStartEndE-ValueType
Pfam:Glypican 7 554 9.3e-247 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125435
AA Change: F544V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571
AA Change: F544V

DomainStartEndE-ValueType
Pfam:Glypican 15 564 7.2e-248 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, short long bones, small skull, small snout, cleft palate and decreased chondrocyte proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,479 (GRCm39) M819K possibly damaging Het
Adamtsl3 T G 7: 82,178,120 (GRCm39) C528G probably damaging Het
Akap9 A G 5: 4,004,870 (GRCm39) K148E probably benign Het
Akr1b1 A T 6: 34,286,577 (GRCm39) D225E probably benign Het
Alms1 C A 6: 85,655,653 (GRCm39) Q2931K possibly damaging Het
Ano3 T C 2: 110,715,346 (GRCm39) K31E possibly damaging Het
Cdc37 A G 9: 21,053,537 (GRCm39) I242T probably damaging Het
Celsr1 T A 15: 85,816,524 (GRCm39) K1806N possibly damaging Het
Clpb T A 7: 101,436,956 (GRCm39) I707N possibly damaging Het
Cntnap2 A T 6: 47,072,483 (GRCm39) Y1017F possibly damaging Het
Creb3l2 A T 6: 37,311,416 (GRCm39) S458T probably benign Het
Ctnnd2 C A 15: 31,009,230 (GRCm39) T1109K possibly damaging Het
Dcaf10 T A 4: 45,373,011 (GRCm39) L425Q probably damaging Het
Dlec1 A G 9: 118,941,167 (GRCm39) E239G probably benign Het
Dnah2 T C 11: 69,390,020 (GRCm39) K742E probably damaging Het
Dsp A T 13: 38,371,717 (GRCm39) R889S probably damaging Het
Dync1h1 T A 12: 110,599,222 (GRCm39) M1859K probably damaging Het
Efcab7 T A 4: 99,758,886 (GRCm39) N361K probably damaging Het
Eps8l2 T C 7: 140,935,646 (GRCm39) V139A probably damaging Het
Fads3 T G 19: 10,019,200 (GRCm39) H35Q probably damaging Het
Fam163b C A 2: 27,003,583 (GRCm39) V24F probably damaging Het
Gm14496 A T 2: 181,636,904 (GRCm39) T121S probably benign Het
Gm4799 C T 10: 82,790,563 (GRCm39) noncoding transcript Het
Gm7168 A T 17: 14,169,797 (GRCm39) D388V probably benign Het
Gmeb1 A T 4: 131,953,386 (GRCm39) L460* probably null Het
Hectd3 A G 4: 116,853,241 (GRCm39) D156G possibly damaging Het
Itga6 T C 2: 71,650,404 (GRCm39) I150T possibly damaging Het
Kansl1 A G 11: 104,229,012 (GRCm39) M863T probably benign Het
Kcnb2 A T 1: 15,780,664 (GRCm39) Y512F probably benign Het
Klhdc2 A T 12: 69,347,053 (GRCm39) M73L probably benign Het
Ktn1 A G 14: 47,932,073 (GRCm39) T667A probably benign Het
Lgsn A C 1: 31,242,736 (GRCm39) I273L probably benign Het
Lilra5 A G 7: 4,245,232 (GRCm39) D292G probably benign Het
Mrps27 C T 13: 99,541,582 (GRCm39) R229C probably damaging Het
Muc5b T G 7: 141,416,173 (GRCm39) S3040A probably benign Het
Nat14 T C 7: 4,926,275 (GRCm39) S7P probably damaging Het
Nfia A G 4: 97,671,694 (GRCm39) I135V possibly damaging Het
Nkd1 G A 8: 89,248,944 (GRCm39) A30T probably damaging Het
Nup205 A G 6: 35,202,903 (GRCm39) D1370G probably null Het
Or1j15 C G 2: 36,459,568 (GRCm39) probably null Het
Or4k15c G A 14: 50,321,310 (GRCm39) T276I probably damaging Het
Or51k2 T C 7: 103,596,400 (GRCm39) L209P probably damaging Het
Or5p79 T A 7: 108,221,494 (GRCm39) N158K possibly damaging Het
Or8s10 T C 15: 98,336,168 (GRCm39) S273P possibly damaging Het
Orc1 C T 4: 108,459,229 (GRCm39) A466V probably benign Het
Otud7a T A 7: 63,385,638 (GRCm39) D367E possibly damaging Het
Pcdhb4 A G 18: 37,441,263 (GRCm39) Y191C probably damaging Het
Pclo T C 5: 14,762,828 (GRCm39) V3767A unknown Het
Pclo T C 5: 14,728,789 (GRCm39) probably benign Het
Prmt1 A T 7: 44,628,225 (GRCm39) probably null Het
Ralgapa1 A G 12: 55,842,483 (GRCm39) F62S probably damaging Het
Rangrf T C 11: 68,863,518 (GRCm39) S163G probably benign Het
Rgs12 C A 5: 35,176,804 (GRCm39) A65E probably damaging Het
Rrbp1 T C 2: 143,830,436 (GRCm39) N577S probably damaging Het
Septin11 A G 5: 93,315,393 (GRCm39) H374R probably damaging Het
Serpina5 T G 12: 104,070,046 (GRCm39) N314K probably benign Het
Sgce T C 6: 4,689,621 (GRCm39) D395G probably damaging Het
Slc26a9 A T 1: 131,690,499 (GRCm39) N501I probably damaging Het
Slc9c1 A G 16: 45,401,965 (GRCm39) D784G possibly damaging Het
Snapc2 A G 8: 4,305,676 (GRCm39) D207G probably benign Het
Stard9 G T 2: 120,529,738 (GRCm39) M1998I probably benign Het
Stk38 A C 17: 29,194,907 (GRCm39) F280V possibly damaging Het
Tas2r126 A G 6: 42,412,025 (GRCm39) K186R probably damaging Het
Tdp1 A C 12: 99,875,970 (GRCm39) D307A probably benign Het
Tead2 A G 7: 44,866,674 (GRCm39) D11G probably damaging Het
Tmco4 C A 4: 138,747,383 (GRCm39) L211I probably damaging Het
Tmem183a A G 1: 134,280,115 (GRCm39) F255S probably damaging Het
Tmem87a C T 2: 120,205,929 (GRCm39) G349S possibly damaging Het
Tpte G A 8: 22,826,549 (GRCm39) E377K possibly damaging Het
Trim32 T C 4: 65,531,893 (GRCm39) F150S possibly damaging Het
Trpc7 T A 13: 57,035,636 (GRCm39) K99M probably damaging Het
Ttc22 A G 4: 106,491,381 (GRCm39) K195E probably damaging Het
Txn2 G A 15: 77,811,917 (GRCm39) P7S probably damaging Het
Ubxn2a G A 12: 4,930,700 (GRCm39) T220I probably damaging Het
Ufd1 A G 16: 18,633,626 (GRCm39) N17S possibly damaging Het
Unc13a A G 8: 72,102,509 (GRCm39) S958P probably damaging Het
Vmn1r202 T A 13: 22,685,824 (GRCm39) M198L probably damaging Het
Vmn2r84 G A 10: 130,221,991 (GRCm39) A743V probably damaging Het
Washc5 A G 15: 59,213,007 (GRCm39) F891S probably damaging Het
Zfp708 T C 13: 67,218,375 (GRCm39) T495A probably benign Het
Zfp81 A G 17: 33,553,593 (GRCm39) I407T probably benign Het
Zswim5 T C 4: 116,843,874 (GRCm39) probably null Het
Other mutations in Gpc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Gpc6 APN 14 118,188,646 (GRCm39) missense probably benign 0.01
IGL00671:Gpc6 APN 14 117,424,199 (GRCm39) missense probably benign 0.01
IGL00928:Gpc6 APN 14 117,163,370 (GRCm39) missense possibly damaging 0.86
IGL01343:Gpc6 APN 14 117,424,224 (GRCm39) missense possibly damaging 0.54
IGL01545:Gpc6 APN 14 118,202,242 (GRCm39) missense probably damaging 1.00
IGL02797:Gpc6 APN 14 117,163,394 (GRCm39) missense probably damaging 0.98
PIT1430001:Gpc6 UTSW 14 118,188,594 (GRCm39) nonsense probably null
R0577:Gpc6 UTSW 14 117,673,420 (GRCm39) missense probably benign 0.03
R0636:Gpc6 UTSW 14 117,861,905 (GRCm39) missense probably benign 0.37
R2152:Gpc6 UTSW 14 117,163,504 (GRCm39) missense probably benign 0.00
R2242:Gpc6 UTSW 14 117,424,199 (GRCm39) missense probably benign 0.01
R2266:Gpc6 UTSW 14 118,125,932 (GRCm39) critical splice acceptor site probably null
R2267:Gpc6 UTSW 14 118,125,932 (GRCm39) critical splice acceptor site probably null
R2269:Gpc6 UTSW 14 118,125,932 (GRCm39) critical splice acceptor site probably null
R3788:Gpc6 UTSW 14 117,861,878 (GRCm39) missense probably damaging 0.98
R4255:Gpc6 UTSW 14 118,188,553 (GRCm39) missense probably benign 0.15
R4276:Gpc6 UTSW 14 117,673,328 (GRCm39) missense probably damaging 0.99
R4411:Gpc6 UTSW 14 118,188,590 (GRCm39) missense probably benign 0.45
R4626:Gpc6 UTSW 14 118,202,255 (GRCm39) nonsense probably null
R4993:Gpc6 UTSW 14 117,861,951 (GRCm39) missense possibly damaging 0.93
R5070:Gpc6 UTSW 14 117,424,181 (GRCm39) missense probably benign 0.01
R6007:Gpc6 UTSW 14 118,188,673 (GRCm39) missense probably damaging 1.00
R6058:Gpc6 UTSW 14 118,202,182 (GRCm39) missense probably damaging 1.00
R6488:Gpc6 UTSW 14 118,202,125 (GRCm39) missense possibly damaging 0.73
R6901:Gpc6 UTSW 14 118,188,629 (GRCm39) missense possibly damaging 0.87
R6981:Gpc6 UTSW 14 117,861,960 (GRCm39) missense probably damaging 0.98
R7200:Gpc6 UTSW 14 118,202,268 (GRCm39) missense probably benign 0.08
R8348:Gpc6 UTSW 14 117,673,232 (GRCm39) missense probably damaging 1.00
R8354:Gpc6 UTSW 14 117,163,391 (GRCm39) missense probably damaging 0.98
R8413:Gpc6 UTSW 14 118,129,761 (GRCm39) missense possibly damaging 0.93
R8454:Gpc6 UTSW 14 117,163,391 (GRCm39) missense probably damaging 0.98
R8518:Gpc6 UTSW 14 117,163,384 (GRCm39) missense probably benign 0.10
R9009:Gpc6 UTSW 14 117,424,217 (GRCm39) missense possibly damaging 0.84
R9112:Gpc6 UTSW 14 117,424,088 (GRCm39) missense probably benign 0.01
R9481:Gpc6 UTSW 14 117,163,432 (GRCm39) missense probably benign
R9762:Gpc6 UTSW 14 118,202,258 (GRCm39) missense probably damaging 0.98
R9790:Gpc6 UTSW 14 117,163,435 (GRCm39) missense probably damaging 0.98
R9791:Gpc6 UTSW 14 117,163,435 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACACCATCCCAAGAGCTGTTGTG -3'
(R):5'- AGAGAAGCAAGCCATCTGGCAC -3'

Sequencing Primer
(F):5'- GTCGTTTATTCCCAGCTAACTG -3'
(R):5'- GCTCTCTTGTCATAGAAAACGGC -3'
Posted On 2013-07-11