Incidental Mutation 'R7064:Gpc2'
ID 548443
Institutional Source Beutler Lab
Gene Symbol Gpc2
Ensembl Gene ENSMUSG00000029510
Gene Name glypican 2 cerebroglycan
Synonyms 2410016G05Rik
MMRRC Submission 045160-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7064 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 138271917-138278267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138277172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 85 (F85Y)
Ref Sequence ENSEMBL: ENSMUSP00000137879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000048028] [ENSMUST00000159067] [ENSMUST00000160729] [ENSMUST00000161691] [ENSMUST00000161827] [ENSMUST00000161984] [ENSMUST00000162245]
AlphaFold Q8BKV1
Predicted Effect probably damaging
Transcript: ENSMUST00000014089
AA Change: F85Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
AA Change: F85Y

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 damaging
Transcript: ENSMUST00000159067
AA Change: F85Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247
AA Change: F85Y

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
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: ENSMUST00000161691
SMART Domains Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161827
AA Change: F85Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
AA Change: F85Y

DomainStartEndE-ValueType
Pfam:Glypican 11 566 3.1e-199 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161984
AA Change: F85Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
AA Change: F85Y

DomainStartEndE-ValueType
Pfam:Glypican 7 342 3.7e-134 PFAM
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,984,746 (GRCm39) I263T probably damaging Het
Adamtsl1 C T 4: 86,260,278 (GRCm39) P830S possibly damaging Het
Adrb1 T C 19: 56,711,456 (GRCm39) F218S probably damaging Het
Ahnak2 T C 12: 112,746,919 (GRCm39) probably benign Het
Arsj T A 3: 126,231,986 (GRCm39) V244E probably damaging Het
Atm T C 9: 53,419,181 (GRCm39) E757G probably benign Het
AU040320 A G 4: 126,685,865 (GRCm39) D147G probably benign Het
Btnl10 A T 11: 58,810,134 (GRCm39) M92L possibly damaging Het
Chd6 T C 2: 160,791,983 (GRCm39) D2458G probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Ctns A G 11: 73,077,218 (GRCm39) V250A probably benign Het
Cxxc1 T A 18: 74,353,678 (GRCm39) probably null Het
Cyp2a4 A T 7: 26,011,732 (GRCm39) M318L probably benign Het
Dchs1 A G 7: 105,412,392 (GRCm39) L1302P probably damaging Het
Decr1 C A 4: 15,945,392 (GRCm39) Het
Dmbx1 T C 4: 115,775,465 (GRCm39) N272D probably damaging Het
Dsel C A 1: 111,790,577 (GRCm39) probably benign Het
Dspp A C 5: 104,324,804 (GRCm39) D389A possibly damaging Het
Ero1a T C 14: 45,544,049 (GRCm39) T52A probably damaging Het
Fam186a T C 15: 99,839,557 (GRCm39) E2229G unknown Het
Gabrd C T 4: 155,472,803 (GRCm39) V127M probably damaging Het
Gucy2g A G 19: 55,198,764 (GRCm39) L793S probably benign Het
Irag1 C G 7: 110,495,061 (GRCm39) E455Q probably damaging Het
Itpr3 G C 17: 27,308,269 (GRCm39) G298R probably damaging Het
Kalrn A T 16: 34,038,261 (GRCm39) C1024S probably damaging Het
Krt40 T C 11: 99,430,954 (GRCm39) Y185C probably benign Het
Lmo7 G A 14: 102,121,615 (GRCm39) D227N probably damaging Het
Mmrn1 T A 6: 60,965,524 (GRCm39) L1184* probably null Het
Or10s1 T A 9: 39,986,109 (GRCm39) Y173N probably damaging Het
Or14j2 T A 17: 37,885,634 (GRCm39) R227W probably damaging Het
Or4c15 T A 2: 88,759,853 (GRCm39) M269L probably benign Het
Parp9 T G 16: 35,774,042 (GRCm39) V338G probably benign Het
Pcdh15 G A 10: 74,466,446 (GRCm39) E888K possibly damaging Het
Pcdh9 C T 14: 94,123,585 (GRCm39) E862K probably damaging Het
Prkdc A G 16: 15,608,317 (GRCm39) T3040A probably benign Het
Qser1 T C 2: 104,617,464 (GRCm39) E1026G probably damaging Het
Rnf20 C T 4: 49,644,580 (GRCm39) R282* probably null Het
Rpgrip1l T A 8: 91,990,148 (GRCm39) K765* probably null Het
Rprd2 G A 3: 95,672,328 (GRCm39) T1025M probably damaging Het
Scn4a A G 11: 106,212,983 (GRCm39) Y1341H possibly damaging Het
Scn5a C G 9: 119,318,977 (GRCm39) D1554H probably damaging Het
Septin14 T C 5: 129,774,870 (GRCm39) I102V probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Siglec1 C T 2: 130,925,834 (GRCm39) G291R probably benign Het
Sik2 A G 9: 50,818,720 (GRCm39) V418A probably damaging Het
Slc9a5 A G 8: 106,076,078 (GRCm39) T24A possibly damaging Het
Spata31d1b T C 13: 59,863,955 (GRCm39) S368P probably benign Het
Stip1 T C 19: 7,012,925 (GRCm39) D53G probably benign Het
Stk36 T C 1: 74,649,979 (GRCm39) W245R probably damaging Het
Stk39 A T 2: 68,189,156 (GRCm39) probably null Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tasor C T 14: 27,194,288 (GRCm39) P1163S probably benign Het
Terb1 A T 8: 105,215,186 (GRCm39) N263K probably benign Het
Tgm5 T C 2: 120,883,995 (GRCm39) M333V probably benign Het
Tmem45a T C 16: 56,642,767 (GRCm39) M135V probably benign Het
Trmt13 T A 3: 116,376,346 (GRCm39) K348N probably damaging Het
Trmt2a A T 16: 18,070,868 (GRCm39) M534L probably damaging Het
Ttll13 G A 7: 79,906,778 (GRCm39) R513K probably null Het
Vmn1r228 T A 17: 20,997,285 (GRCm39) I78L probably benign Het
Washc3 T C 10: 88,081,635 (GRCm39) V173A possibly damaging Het
Zc2hc1b A T 10: 13,047,049 (GRCm39) C21S probably damaging Het
Zfp944 T A 17: 22,558,560 (GRCm39) H229L probably damaging Het
Zfp985 T A 4: 147,667,573 (GRCm39) I147N 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
IGL01315:Gpc2 APN 5 138,274,301 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGCCTAGCTATGACTGCAG -3'
(R):5'- TATGGCCCTCAAAGCAGCTG -3'

Sequencing Primer
(F):5'- CCTAGCTATGACTGCAGGAGGTG -3'
(R):5'- GCAGCTGTTCAATAGATGATCCC -3'
Posted On 2019-05-13