Incidental Mutation 'R7821:Gpc2'
ID 601860
Institutional Source Beutler Lab
Gene Symbol Gpc2
Ensembl Gene ENSMUSG00000029510
Gene Name glypican 2 cerebroglycan
Synonyms 2410016G05Rik
MMRRC Submission 045875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7821 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 138271917-138278267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138274559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 312 (S312P)
Ref Sequence ENSEMBL: ENSMUSP00000137879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000048028] [ENSMUST00000100530] [ENSMUST00000159067] [ENSMUST00000160729] [ENSMUST00000161279] [ENSMUST00000161827] [ENSMUST00000161984] [ENSMUST00000161647] [ENSMUST00000161665] [ENSMUST00000161691] [ENSMUST00000162245]
AlphaFold Q8BKV1
Predicted Effect probably benign
Transcript: ENSMUST00000014089
AA Change: S312P

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
AA Change: S312P

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 silent
Transcript: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

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: 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: ENSMUST00000161827
AA Change: S312P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
AA Change: S312P

DomainStartEndE-ValueType
Pfam:Glypican 11 566 3.1e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161984
AA Change: S312P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
AA Change: S312P

DomainStartEndE-ValueType
Pfam:Glypican 7 342 3.7e-134 PFAM
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: ENSMUST00000161665
SMART Domains Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593

DomainStartEndE-ValueType
transmembrane domain 17 39 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 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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (61/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,120,929 (GRCm39) T112S probably damaging Het
Abca12 G T 1: 71,298,950 (GRCm39) S2320R probably benign Het
Abca7 TGGTGCGTGAG TG 10: 79,838,424 (GRCm39) probably benign Het
Adh7 T A 3: 137,932,136 (GRCm39) I250N probably damaging Het
Albfm1 T C 5: 90,740,747 (GRCm39) V560A possibly damaging Het
Aoc1 T A 6: 48,882,745 (GRCm39) I229N probably damaging Het
C2cd6 A T 1: 59,106,951 (GRCm39) Y291* probably null Het
Cacnb4 T C 2: 52,324,520 (GRCm39) D514G possibly damaging Het
Ccdc202 A G 14: 96,119,486 (GRCm39) Q81R possibly damaging Het
Clec2g A G 6: 128,925,740 (GRCm39) T50A probably benign Het
Col6a5 T C 9: 105,741,458 (GRCm39) E2487G probably damaging Het
D130040H23Rik A T 8: 69,752,887 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,087,879 (GRCm39) S14N unknown Het
Dchs1 G A 7: 105,414,352 (GRCm39) T821I probably benign Het
Dhcr24 T C 4: 106,428,633 (GRCm39) S138P possibly damaging Het
Dhrs9 G A 2: 69,224,782 (GRCm39) G157R probably damaging Het
Dnah5 T A 15: 28,411,678 (GRCm39) D3682E possibly damaging Het
Dst T C 1: 34,314,443 (GRCm39) probably null Het
Fat1 A T 8: 45,403,261 (GRCm39) H4L probably benign Het
Flnb A G 14: 7,939,113 (GRCm38) I2319V probably benign Het
Foxe1 T C 4: 46,344,578 (GRCm39) W129R probably damaging Het
Foxred2 G A 15: 77,827,550 (GRCm39) P603L probably benign Het
Fshr A G 17: 89,293,641 (GRCm39) S346P probably damaging Het
Galnt2 T A 8: 125,070,134 (GRCm39) S550R possibly damaging Het
Gpr150 C A 13: 76,204,511 (GRCm39) A145S probably benign Het
Grk4 T A 5: 34,867,553 (GRCm39) W173R probably damaging Het
Hoxb9 C G 11: 96,162,537 (GRCm39) P57R probably damaging Het
Hsf5 A G 11: 87,528,954 (GRCm39) Q563R probably benign Het
Ighv1-58 A G 12: 115,275,796 (GRCm39) F114S possibly damaging Het
Klra9 T A 6: 130,162,563 (GRCm39) I158F probably damaging Het
Lrrc8d T C 5: 105,960,210 (GRCm39) S207P probably damaging Het
Nbeal2 T C 9: 110,459,320 (GRCm39) E1929G probably damaging Het
Ncoa1 A G 12: 4,346,221 (GRCm39) M89T probably benign Het
Nkx2-4 T C 2: 146,927,208 (GRCm39) I20V probably benign Het
Nup214 T C 2: 31,916,917 (GRCm39) S1191P possibly damaging Het
Or2n1d A G 17: 38,646,855 (GRCm39) D269G probably benign Het
Pfkp T A 13: 6,647,908 (GRCm39) N556I probably damaging Het
Pidd1 A T 7: 141,022,193 (GRCm39) S199T probably benign Het
Pik3r2 T A 8: 71,222,408 (GRCm39) I515F probably damaging Het
Plcxd2 T A 16: 45,785,524 (GRCm39) I294F probably damaging Het
Prmt6 C A 3: 110,158,303 (GRCm39) probably benign Het
Prpf8 A G 11: 75,385,300 (GRCm39) I812V probably benign Het
Rasa2 T C 9: 96,462,537 (GRCm39) probably null Het
Rsad1 A C 11: 94,435,288 (GRCm39) D266E probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Shroom3 T A 5: 93,088,705 (GRCm39) V485E probably damaging Het
Siae T A 9: 37,556,196 (GRCm39) Y451N probably damaging Het
Slc7a11 A T 3: 50,335,476 (GRCm39) I354N probably damaging Het
Spryd7 A T 14: 61,783,129 (GRCm39) probably null Het
Srcap A G 7: 127,129,499 (GRCm39) probably benign Het
Svep1 T A 4: 58,179,601 (GRCm39) D214V probably damaging Het
Tmtc4 T C 14: 123,209,289 (GRCm39) I119V probably benign Het
Trim5 G A 7: 103,927,633 (GRCm39) T169I probably benign Het
Ttc33 T C 15: 5,241,506 (GRCm39) F83S probably benign Het
Ubr5 A T 15: 37,997,431 (GRCm39) S1741T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdcp A G 12: 4,907,975 (GRCm39) N694S probably benign Het
Zfp174 T A 16: 3,666,041 (GRCm39) I102N probably damaging Het
Zfp354a T C 11: 50,960,539 (GRCm39) F248S probably damaging Het
Zfyve26 A T 12: 79,302,098 (GRCm39) C404S probably damaging Het
Zmynd8 A T 2: 165,723,000 (GRCm39) 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
R7064:Gpc2 UTSW 5 138,277,172 (GRCm39) missense probably damaging 1.00
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'- AAGCCAATCAGAGTGTCCCG -3'
(R):5'- GTGGCCTAAAACCAAACTGGG -3'

Sequencing Primer
(F):5'- AATCAGAGTGTCCCGTCTCG -3'
(R):5'- CCTAAAACCAAACTGGGGGAAGC -3'
Posted On 2019-12-03