Incidental Mutation 'R5096:Scube2'
ID 388044
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 042685-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R5096 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 109397897-109464886 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 109398451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007423] [ENSMUST00000106728] [ENSMUST00000106729]
AlphaFold Q9JJS0
Predicted Effect probably benign
Transcript: ENSMUST00000007423
SMART Domains Protein: ENSMUSP00000007423
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 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 probably benign
Transcript: ENSMUST00000106729
SMART Domains Protein: ENSMUSP00000102340
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138946
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 95% (61/64)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,916,679 (GRCm39) probably benign Het
Adar T A 3: 89,654,598 (GRCm39) *728C probably null Het
Ap3b1 A G 13: 94,616,357 (GRCm39) R753G unknown Het
Atp9b C T 18: 80,805,399 (GRCm39) V720I probably benign Het
AY358078 A C 14: 52,063,575 (GRCm39) D407A probably benign Het
Ccdc185 A G 1: 182,576,354 (GRCm39) S112P possibly damaging Het
Cir1 A G 2: 73,134,105 (GRCm39) S155P probably damaging Het
Colq C T 14: 31,274,911 (GRCm39) E76K possibly damaging Het
Cthrc1 T A 15: 38,947,815 (GRCm39) I104N probably damaging Het
D930020B18Rik A T 10: 121,503,709 (GRCm39) I92L probably benign Het
Eif3i C T 4: 129,494,237 (GRCm39) E21K probably damaging Het
Fam114a1 T A 5: 65,137,234 (GRCm39) M59K probably benign Het
Fam163b A G 2: 27,002,761 (GRCm39) S79P probably benign Het
Fam181b T G 7: 92,730,452 (GRCm39) probably benign Het
Fsip2 G A 2: 82,821,460 (GRCm39) S5731N probably benign Het
Fzd9 C T 5: 135,278,713 (GRCm39) V391I probably damaging Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm10715 T C 9: 3,038,157 (GRCm39) probably benign Het
Grhl1 A T 12: 24,653,049 (GRCm39) K418M probably damaging Het
H2-Q4 T A 17: 35,598,689 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,486,420 (GRCm39) A4329S probably damaging Het
Hspa8 T C 9: 40,714,197 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,313 (GRCm39) T26A possibly damaging Het
Ifi209 T A 1: 173,472,300 (GRCm39) N380K probably benign Het
Inpp5e G T 2: 26,289,537 (GRCm39) N482K probably damaging Het
Iqsec3 C T 6: 121,363,657 (GRCm39) V866M probably damaging Het
Kbtbd2 A G 6: 56,756,260 (GRCm39) V492A probably benign Het
Kcnb2 A G 1: 15,781,068 (GRCm39) R647G probably benign Het
Lcmt1 T G 7: 123,000,691 (GRCm39) V75G probably damaging Het
Lrp4 A G 2: 91,316,137 (GRCm39) I752V possibly damaging Het
Mmp17 C A 5: 129,682,627 (GRCm39) P422Q probably damaging Het
Myo3a A T 2: 22,464,254 (GRCm39) H165L probably benign Het
Nos3 C T 5: 24,576,955 (GRCm39) T494I probably damaging Het
Or1ak2 T C 2: 36,827,815 (GRCm39) V228A possibly damaging Het
Or4p22 C T 2: 88,317,646 (GRCm39) T190I possibly damaging Het
Or51q1c T C 7: 103,652,667 (GRCm39) Y68H probably benign Het
Or8u8 A G 2: 86,012,276 (GRCm39) Y60H probably damaging Het
Pkn2 A C 3: 142,545,092 (GRCm39) V27G probably damaging Het
Skint7 A G 4: 111,839,152 (GRCm39) I149V probably damaging Het
Smc4 T A 3: 68,928,612 (GRCm39) I412K probably damaging Het
Snx19 T A 9: 30,340,082 (GRCm39) C407S probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sytl2 T A 7: 90,025,290 (GRCm39) I426N possibly damaging Het
Tbce A T 13: 14,203,990 (GRCm39) probably benign Het
Tdpoz2 T C 3: 93,559,819 (GRCm39) E51G possibly damaging Het
Tmem221 A G 8: 72,011,353 (GRCm39) L34P probably damaging Het
Tmem92 T C 11: 94,669,862 (GRCm39) T90A probably benign Het
Tpr A G 1: 150,321,953 (GRCm39) D42G probably damaging Het
Wt1 A G 2: 104,973,470 (GRCm39) T237A 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
R2254:Scube2 UTSW 7 109,424,666 (GRCm39) missense possibly damaging 0.47
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
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'- CGCAGTCCACATCTGAAATG -3'
(R):5'- AAGATTTGAGTGTCTTGGCCC -3'

Sequencing Primer
(F):5'- CAGTCCACATCTGAAATGTTGGG -3'
(R):5'- GAGTGTCTTGGCCCCATAAC -3'
Posted On 2016-06-06