Incidental Mutation 'IGL01545:Gpc6'
ID 90279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpc6
Ensembl Gene ENSMUSG00000058571
Gene Name glypican 6
Synonyms 6720429C22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL01545
Quality Score
Status
Chromosome 14
Chromosomal Location 117162727-118213956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118202242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 484 (L484R)
Ref Sequence ENSEMBL: ENSMUSP00000120362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078849] [ENSMUST00000088483] [ENSMUST00000125435]
AlphaFold Q9R087
Predicted Effect probably damaging
Transcript: ENSMUST00000078849
AA Change: L474R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571
AA Change: L474R

DomainStartEndE-ValueType
Pfam:Glypican 7 554 9.3e-247 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088483
AA Change: L474R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571
AA Change: L474R

DomainStartEndE-ValueType
Pfam:Glypican 7 554 9.3e-247 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125435
AA Change: L484R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571
AA Change: L484R

DomainStartEndE-ValueType
Pfam:Glypican 15 564 7.2e-248 PFAM
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,376,228 (GRCm39) S213L probably benign Het
Adgrv1 A G 13: 81,614,303 (GRCm39) I4030T possibly damaging Het
Ap4b1 G A 3: 103,720,143 (GRCm39) R55H probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Atp6v1h T A 1: 5,159,282 (GRCm39) M55K probably benign Het
B3galt4 A C 17: 34,170,187 (GRCm39) V17G probably benign Het
Cd79a A T 7: 24,600,691 (GRCm39) M172L probably benign Het
Cry1 A T 10: 85,020,226 (GRCm39) L37H possibly damaging Het
D5Ertd615e A T 5: 45,326,755 (GRCm39) noncoding transcript Het
Dnah17 A T 11: 118,010,394 (GRCm39) L308Q probably damaging Het
Dnah7a C T 1: 53,557,941 (GRCm39) A2158T probably benign Het
Dusp2 A G 2: 127,179,695 (GRCm39) T313A probably benign Het
Fam110c T C 12: 31,124,982 (GRCm39) S315P probably damaging Het
Fcer2a G A 8: 3,733,598 (GRCm39) R198* probably null Het
Fryl G A 5: 73,211,940 (GRCm39) T2359M probably damaging Het
Gm14221 G A 2: 160,410,303 (GRCm39) noncoding transcript Het
Igdcc3 G A 9: 65,087,355 (GRCm39) V298M probably damaging Het
Impg2 T A 16: 56,046,080 (GRCm39) probably benign Het
Iqca1 T A 1: 89,973,364 (GRCm39) M803L probably benign Het
Itga4 T C 2: 79,146,314 (GRCm39) probably benign Het
Katnip A G 7: 125,352,143 (GRCm39) probably null Het
Kidins220 T C 12: 25,090,459 (GRCm39) F1141S possibly damaging Het
Kif7 A G 7: 79,352,026 (GRCm39) I912T probably damaging Het
Klhl38 G A 15: 58,185,854 (GRCm39) R292W probably damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Map4k4 T C 1: 40,053,389 (GRCm39) probably benign Het
Mbd4 A T 6: 115,827,758 (GRCm39) D39E probably damaging Het
Mrm2 A G 5: 140,317,010 (GRCm39) V8A probably benign Het
Myod1 A T 7: 46,026,539 (GRCm39) E148V probably damaging Het
Or5d47 A C 2: 87,804,895 (GRCm39) I38S probably benign Het
Pdcd10 A T 3: 75,448,475 (GRCm39) F30I possibly damaging Het
Ptcd1 T A 5: 145,096,346 (GRCm39) H249L probably damaging Het
Ptcd3 A T 6: 71,865,561 (GRCm39) D451E probably benign Het
Rab44 C A 17: 29,366,351 (GRCm39) S680R unknown Het
Rad21l A T 2: 151,497,084 (GRCm39) D340E probably benign Het
Ranbp2 T C 10: 58,314,703 (GRCm39) F1808L possibly damaging Het
Rnf122 T C 8: 31,618,630 (GRCm39) V126A probably damaging Het
Slc25a47 G T 12: 108,820,142 (GRCm39) V49L probably benign Het
Slc36a2 T C 11: 55,075,633 (GRCm39) probably null Het
Sorl1 G A 9: 41,955,252 (GRCm39) R668W probably damaging Het
Tbx19 T A 1: 164,966,725 (GRCm39) N383I possibly damaging Het
Tenm4 A G 7: 96,523,510 (GRCm39) H1676R probably benign Het
Tgm5 G T 2: 120,883,289 (GRCm39) R351S probably damaging Het
Tmem106b A G 6: 13,071,842 (GRCm39) S34G probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Ubr4 G A 4: 139,170,140 (GRCm39) probably benign Het
Wfdc11 A G 2: 164,507,365 (GRCm39) probably null Het
Xrn2 T A 2: 146,880,099 (GRCm39) I474K probably benign Het
Zfp827 A G 8: 79,797,063 (GRCm39) K383R probably damaging 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
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
R0611:Gpc6 UTSW 14 118,212,430 (GRCm39) missense probably null
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
Posted On 2013-12-03