Incidental Mutation 'IGL01315:Gpc2'
ID 73814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpc2
Ensembl Gene ENSMUSG00000029510
Gene Name glypican 2 cerebroglycan
Synonyms 2410016G05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01315
Quality Score
Status
Chromosome 5
Chromosomal Location 138271917-138278267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138274301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 354 (S354P)
Ref Sequence ENSEMBL: ENSMUSP00000124459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000048028] [ENSMUST00000100530] [ENSMUST00000159067] [ENSMUST00000161827] [ENSMUST00000161984] [ENSMUST00000161279] [ENSMUST00000161665] [ENSMUST00000160729] [ENSMUST00000162245] [ENSMUST00000161647] [ENSMUST00000161691]
AlphaFold Q8BKV1
Predicted Effect probably benign
Transcript: ENSMUST00000014089
AA Change: S354P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
AA Change: S354P

DomainStartEndE-ValueType
Pfam:Glypican 7 560 2.8e-186 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048028
SMART Domains Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Pfam:STAG 188 301 3.1e-38 PFAM
low complexity region 633 653 N/A INTRINSIC
low complexity region 1099 1114 N/A INTRINSIC
low complexity region 1141 1151 N/A INTRINSIC
low complexity region 1190 1208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100530
SMART Domains Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 2 231 1.1e-57 PFAM
Pfam:Gal-3-0_sulfotr 270 463 1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159483
Predicted Effect probably benign
Transcript: ENSMUST00000161827
AA Change: S354P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
AA Change: S354P

DomainStartEndE-ValueType
Pfam:Glypican 11 566 3.1e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161113
Predicted Effect probably benign
Transcript: ENSMUST00000161984
SMART Domains Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 7 342 3.7e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161279
SMART Domains Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 2 231 1.1e-57 PFAM
Pfam:Gal-3-0_sulfotr 270 463 1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161665
SMART Domains Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160729
SMART Domains Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162245
SMART Domains Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Pfam:STAG 185 304 4e-50 PFAM
low complexity region 633 653 N/A INTRINSIC
low complexity region 1099 1114 N/A INTRINSIC
low complexity region 1141 1151 N/A INTRINSIC
low complexity region 1190 1208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161647
SMART Domains Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 4 226 5.3e-58 PFAM
Pfam:Gal-3-0_sulfotr 265 458 3.8e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161691
SMART Domains Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162909
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 31,050,578 (GRCm39) S409P probably benign Het
Ankdd1a T A 9: 65,415,984 (GRCm39) H187L probably damaging Het
Ap2a1 A T 7: 44,565,713 (GRCm39) D51E possibly damaging Het
Ccn3 T C 15: 54,612,656 (GRCm39) S222P probably damaging Het
Cog5 T A 12: 31,810,985 (GRCm39) probably benign Het
Eif3h T C 15: 51,705,881 (GRCm39) D91G probably damaging Het
Ell2 A G 13: 75,910,351 (GRCm39) probably benign Het
Epha4 A G 1: 77,375,194 (GRCm39) V551A probably benign Het
Gramd1a A G 7: 30,841,993 (GRCm39) F140L probably damaging Het
Hnmt A G 2: 23,909,180 (GRCm39) Y78H probably benign Het
Ighe T A 12: 113,234,972 (GRCm39) H396L unknown Het
Krt87 A G 15: 101,384,848 (GRCm39) probably benign Het
Mgat5b T C 11: 116,814,215 (GRCm39) S40P probably damaging Het
Mov10 A G 3: 104,703,261 (GRCm39) V876A probably damaging Het
Nbeal1 T C 1: 60,320,500 (GRCm39) V2031A probably damaging Het
Ntm T A 9: 28,925,480 (GRCm39) S26C probably damaging Het
Pcsk5 G A 19: 17,429,322 (GRCm39) T1552I probably damaging Het
Pex1 A T 5: 3,659,975 (GRCm39) D453V probably damaging Het
Pkd2l1 C T 19: 44,180,635 (GRCm39) D27N probably benign Het
Plppr5 G T 3: 117,456,175 (GRCm39) C232F probably damaging Het
Slc39a2 G T 14: 52,132,593 (GRCm39) E179* probably null Het
Slc8a3 A G 12: 81,361,169 (GRCm39) V550A probably damaging Het
Smc5 T A 19: 23,208,968 (GRCm39) T626S probably benign Het
Tars1 A C 15: 11,389,820 (GRCm39) Y363* probably null Het
Unc79 T C 12: 103,054,780 (GRCm39) I906T possibly damaging Het
Ush2a C T 1: 188,365,811 (GRCm39) P2222S possibly damaging Het
Wdr31 A C 4: 62,374,074 (GRCm39) V306G probably damaging Het
Zdhhc1 C A 8: 106,199,630 (GRCm39) R389S probably benign Het
Other mutations in Gpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Gpc2 APN 5 138,272,571 (GRCm39) utr 3 prime probably benign
IGL00938:Gpc2 APN 5 138,277,169 (GRCm39) missense probably benign 0.08
IGL01583:Gpc2 APN 5 138,273,792 (GRCm39) missense probably damaging 1.00
IGL01590:Gpc2 APN 5 138,272,640 (GRCm39) missense probably damaging 0.99
IGL02040:Gpc2 APN 5 138,274,844 (GRCm39) critical splice donor site probably null
IGL02322:Gpc2 APN 5 138,274,499 (GRCm39) splice site probably null
IGL02655:Gpc2 APN 5 138,277,187 (GRCm39) missense possibly damaging 0.73
R0638:Gpc2 UTSW 5 138,276,796 (GRCm39) missense possibly damaging 0.79
R1004:Gpc2 UTSW 5 138,276,487 (GRCm39) missense probably damaging 1.00
R1918:Gpc2 UTSW 5 138,276,641 (GRCm39) missense probably benign 0.01
R4177:Gpc2 UTSW 5 138,275,621 (GRCm39) unclassified probably benign
R4361:Gpc2 UTSW 5 138,276,552 (GRCm39) nonsense probably null
R5178:Gpc2 UTSW 5 138,273,867 (GRCm39) missense possibly damaging 0.59
R5250:Gpc2 UTSW 5 138,277,230 (GRCm39) missense probably damaging 1.00
R5365:Gpc2 UTSW 5 138,273,885 (GRCm39) missense probably damaging 1.00
R6182:Gpc2 UTSW 5 138,276,676 (GRCm39) missense probably benign 0.01
R6548:Gpc2 UTSW 5 138,275,533 (GRCm39) splice site probably null
R6985:Gpc2 UTSW 5 138,276,670 (GRCm39) missense probably damaging 1.00
R7064:Gpc2 UTSW 5 138,277,172 (GRCm39) missense probably damaging 1.00
R7821:Gpc2 UTSW 5 138,274,559 (GRCm39) missense probably benign 0.43
R8460:Gpc2 UTSW 5 138,274,891 (GRCm39) missense probably damaging 0.99
R9043:Gpc2 UTSW 5 138,277,193 (GRCm39) missense probably benign 0.00
R9124:Gpc2 UTSW 5 138,274,784 (GRCm39) unclassified probably benign
R9287:Gpc2 UTSW 5 138,272,586 (GRCm39) missense unknown
R9439:Gpc2 UTSW 5 138,277,248 (GRCm39) missense probably benign 0.20
Posted On 2013-10-07