Incidental Mutation 'R2254:Scube2'
ID 241875
Institutional Source Beutler Lab
Gene Symbol Scube2
Ensembl Gene ENSMUSG00000007279
Gene Name signal peptide, CUB domain, EGF-like 2
Synonyms ICRFP703B1614Q5.1, Cegf1, ICRFP703N2430Q5.1, 4932442O19Rik
MMRRC Submission 040254-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R2254 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 109397897-109464886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109424666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 549 (V549A)
Ref Sequence ENSEMBL: ENSMUSP00000102340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007423] [ENSMUST00000106728] [ENSMUST00000106729]
AlphaFold Q9JJS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000007423
AA Change: V521A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: V521A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EGF_CA 43 83 7.01e-10 SMART
EGF_CA 84 125 1.79e-7 SMART
EGF_CA 126 166 1.5e-9 SMART
EGF 174 212 2.19e-2 SMART
EGF 214 251 4.89e0 SMART
EGF 283 320 5.12e-3 SMART
EGF_CA 321 361 3.7e-9 SMART
EGF_CA 362 400 1.85e-9 SMART
EGF_CA 401 441 2.48e-10 SMART
low complexity region 479 490 N/A INTRINSIC
low complexity region 577 594 N/A INTRINSIC
Pfam:GCC2_GCC3 642 692 7.2e-19 PFAM
Pfam:GCC2_GCC3 699 746 2e-16 PFAM
Pfam:GCC2_GCC3 755 802 3.1e-18 PFAM
CUB 807 919 1.23e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106728
SMART Domains Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EGF_CA 43 83 7.01e-10 SMART
EGF_CA 84 125 1.79e-7 SMART
EGF_CA 126 166 1.5e-9 SMART
EGF 174 212 2.19e-2 SMART
EGF 214 251 4.89e0 SMART
EGF 283 320 5.12e-3 SMART
EGF_CA 321 361 3.7e-9 SMART
EGF_CA 362 400 1.85e-9 SMART
EGF_CA 401 441 2.48e-10 SMART
low complexity region 451 468 N/A INTRINSIC
Pfam:GCC2_GCC3 516 566 6.4e-17 PFAM
Pfam:GCC2_GCC3 573 620 3.5e-14 PFAM
Pfam:GCC2_GCC3 629 676 5.4e-16 PFAM
Blast:CUB 678 727 2e-25 BLAST
Blast:CUB 730 796 1e-37 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000106729
AA Change: V549A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: V549A

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EGF_CA 43 83 7.01e-10 SMART
EGF_CA 84 125 1.79e-7 SMART
EGF_CA 126 166 1.5e-9 SMART
EGF 174 212 2.19e-2 SMART
EGF 214 251 4.89e0 SMART
EGF 283 320 5.12e-3 SMART
EGF_CA 321 361 3.7e-9 SMART
EGF_CA 362 400 1.85e-9 SMART
EGF_CA 401 441 2.48e-10 SMART
low complexity region 605 622 N/A INTRINSIC
Pfam:GCC2_GCC3 670 717 1.8e-16 PFAM
Pfam:GCC2_GCC3 726 773 2.7e-18 PFAM
CUB 778 890 1.23e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132113
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation are smaller than controls. Mice also exhibit defective endochondral bone formation and impaired Ihh-mediated chondrocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,311,365 (GRCm39) E260G probably benign Het
AI429214 G T 8: 37,460,920 (GRCm39) D23Y possibly damaging Het
Alms1 A G 6: 85,596,830 (GRCm39) Y1021C probably damaging Het
Ang5 A G 14: 44,200,074 (GRCm39) D46G probably benign Het
Ano9 T A 7: 140,683,003 (GRCm39) D635V probably benign Het
Apob C T 12: 8,061,256 (GRCm39) T3246I possibly damaging Het
Arhgef25 T C 10: 127,025,390 (GRCm39) E63G probably benign Het
B3gnt4 A C 5: 123,649,342 (GRCm39) I236L probably damaging Het
Bmper T A 9: 23,292,759 (GRCm39) I356N possibly damaging Het
Capn3 A G 2: 120,331,732 (GRCm39) E614G probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Cdcp3 G T 7: 130,824,634 (GRCm39) C243F probably damaging Het
Cdh2 A T 18: 16,776,985 (GRCm39) probably null Het
Chmp7 C T 14: 69,958,405 (GRCm39) V255I probably damaging Het
Dnhd1 T A 7: 105,352,979 (GRCm39) S2711T probably damaging Het
Gabrg1 T A 5: 70,939,707 (GRCm39) K137* probably null Het
Gdi2 T A 13: 3,604,400 (GRCm39) probably null Het
Glyr1 A G 16: 4,836,877 (GRCm39) V429A probably benign Het
Gm5938 T A X: 77,172,161 (GRCm39) probably null Het
Golt1b T C 6: 142,341,979 (GRCm39) L121P probably damaging Het
Gpi1 T C 7: 33,902,302 (GRCm39) N471S probably damaging Het
Ifi204 G A 1: 173,589,296 (GRCm39) T45M possibly damaging Het
Il18r1 A G 1: 40,530,380 (GRCm39) N369S possibly damaging Het
Kcnh1 G T 1: 192,187,722 (GRCm39) probably null Het
Kitl G A 10: 99,915,993 (GRCm39) probably null Het
Krt33a A T 11: 99,905,004 (GRCm39) D167E possibly damaging Het
Lax1 A G 1: 133,607,971 (GRCm39) S257P probably damaging Het
Lepr T C 4: 101,672,309 (GRCm39) I1111T probably benign Het
Lrrcc1 G A 3: 14,612,315 (GRCm39) R356H probably damaging Het
Map1a A G 2: 121,134,272 (GRCm39) D1458G possibly damaging Het
Med11 T C 11: 70,342,921 (GRCm39) probably null Het
Mtmr2 T C 9: 13,707,353 (GRCm39) Y230H possibly damaging Het
Nup93 T C 8: 94,954,485 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,271 (GRCm39) V294A probably damaging Het
Ovch2 A G 7: 107,389,402 (GRCm39) V342A probably benign Het
Ovgp1 A G 3: 105,894,228 (GRCm39) probably benign Het
Oxtr A T 6: 112,466,067 (GRCm39) L231Q probably damaging Het
Prap1 A G 7: 139,676,075 (GRCm39) T30A probably damaging Het
Scg2 G A 1: 79,414,217 (GRCm39) P169S probably damaging Het
Slc22a12 A T 19: 6,592,571 (GRCm39) V57D possibly damaging Het
Slc22a28 A C 19: 8,041,858 (GRCm39) C450G probably benign Het
Tas2r120 A T 6: 132,634,572 (GRCm39) Q218L probably benign Het
Tbx15 A G 3: 99,259,190 (GRCm39) T354A possibly damaging Het
Trim24 A G 6: 37,935,612 (GRCm39) T868A probably benign Het
Ttn T A 2: 76,598,684 (GRCm39) M19410L possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Upb1 G A 10: 75,272,051 (GRCm39) R288H probably damaging Het
Wdr20rt T A 12: 65,273,007 (GRCm39) W56R probably damaging Het
Wdr62 T G 7: 29,967,328 (GRCm39) I309L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp40 T C 17: 23,397,344 (GRCm39) D51G possibly damaging Het
Zfp64 G A 2: 168,768,662 (GRCm39) H317Y probably damaging Het
Other mutations in Scube2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Scube2 APN 7 109,407,661 (GRCm39) missense probably damaging 1.00
IGL01608:Scube2 APN 7 109,442,461 (GRCm39) missense probably benign
IGL02080:Scube2 APN 7 109,451,685 (GRCm39) missense probably damaging 1.00
PIT4445001:Scube2 UTSW 7 109,408,387 (GRCm39) missense probably benign 0.22
R0020:Scube2 UTSW 7 109,430,095 (GRCm39) splice site probably benign
R0020:Scube2 UTSW 7 109,430,095 (GRCm39) splice site probably benign
R0106:Scube2 UTSW 7 109,446,115 (GRCm39) splice site probably benign
R0230:Scube2 UTSW 7 109,423,971 (GRCm39) critical splice donor site probably null
R0255:Scube2 UTSW 7 109,424,079 (GRCm39) missense probably damaging 0.98
R0427:Scube2 UTSW 7 109,424,044 (GRCm39) missense probably benign 0.00
R0612:Scube2 UTSW 7 109,403,971 (GRCm39) splice site probably benign
R0658:Scube2 UTSW 7 109,436,327 (GRCm39) splice site probably benign
R0687:Scube2 UTSW 7 109,428,335 (GRCm39) missense possibly damaging 0.47
R1087:Scube2 UTSW 7 109,430,882 (GRCm39) missense probably damaging 1.00
R1366:Scube2 UTSW 7 109,403,821 (GRCm39) missense probably damaging 1.00
R1635:Scube2 UTSW 7 109,442,421 (GRCm39) missense possibly damaging 0.90
R1797:Scube2 UTSW 7 109,430,882 (GRCm39) missense probably damaging 1.00
R1972:Scube2 UTSW 7 109,408,421 (GRCm39) missense probably benign 0.16
R2080:Scube2 UTSW 7 109,407,712 (GRCm39) missense possibly damaging 0.77
R2315:Scube2 UTSW 7 109,403,908 (GRCm39) missense probably damaging 1.00
R2325:Scube2 UTSW 7 109,443,161 (GRCm39) missense probably damaging 1.00
R3723:Scube2 UTSW 7 109,407,613 (GRCm39) splice site probably benign
R3887:Scube2 UTSW 7 109,442,383 (GRCm39) splice site probably benign
R3946:Scube2 UTSW 7 109,456,797 (GRCm39) missense possibly damaging 0.81
R4030:Scube2 UTSW 7 109,430,978 (GRCm39) missense probably benign 0.09
R4621:Scube2 UTSW 7 109,399,857 (GRCm39) missense possibly damaging 0.63
R4684:Scube2 UTSW 7 109,409,920 (GRCm39) missense probably damaging 0.96
R4736:Scube2 UTSW 7 109,430,412 (GRCm39) missense probably benign 0.01
R5096:Scube2 UTSW 7 109,398,451 (GRCm39) utr 3 prime probably benign
R5266:Scube2 UTSW 7 109,408,437 (GRCm39) missense probably damaging 1.00
R5579:Scube2 UTSW 7 109,409,944 (GRCm39) missense probably damaging 1.00
R5669:Scube2 UTSW 7 109,424,646 (GRCm39) missense probably benign 0.04
R5838:Scube2 UTSW 7 109,407,651 (GRCm39) missense probably damaging 1.00
R5916:Scube2 UTSW 7 109,430,931 (GRCm39) missense possibly damaging 0.77
R6056:Scube2 UTSW 7 109,432,220 (GRCm39) nonsense probably null
R6731:Scube2 UTSW 7 109,409,944 (GRCm39) missense probably damaging 1.00
R6785:Scube2 UTSW 7 109,409,824 (GRCm39) missense probably benign
R8197:Scube2 UTSW 7 109,407,684 (GRCm39) missense possibly damaging 0.53
R8250:Scube2 UTSW 7 109,463,377 (GRCm39) missense probably benign 0.20
R8273:Scube2 UTSW 7 109,408,383 (GRCm39) missense probably benign 0.00
R8427:Scube2 UTSW 7 109,399,797 (GRCm39) missense probably damaging 1.00
R8882:Scube2 UTSW 7 109,451,680 (GRCm39) missense probably damaging 1.00
R9258:Scube2 UTSW 7 109,398,515 (GRCm39) missense probably damaging 1.00
R9428:Scube2 UTSW 7 109,428,345 (GRCm39) missense probably benign 0.32
R9476:Scube2 UTSW 7 109,430,969 (GRCm39) missense probably damaging 1.00
R9510:Scube2 UTSW 7 109,430,969 (GRCm39) missense probably damaging 1.00
R9709:Scube2 UTSW 7 109,430,971 (GRCm39) missense probably damaging 1.00
Z1177:Scube2 UTSW 7 109,442,408 (GRCm39) missense probably damaging 1.00
Z1177:Scube2 UTSW 7 109,437,334 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGCTGTGAGAAGCCTGG -3'
(R):5'- TCATGAGCTCAGCTGTAAAGTTAC -3'

Sequencing Primer
(F):5'- GCATCACAGATGGCTTTCAG -3'
(R):5'- TGAAAATGTCCCGGCTTCAG -3'
Posted On 2014-10-16