Incidental Mutation 'IGL02961:Ccm2l'
ID365357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccm2l
Ensembl Gene ENSMUSG00000027474
Gene Namecerebral cavernous malformation 2-like
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02961
Quality Score
Status
Chromosome2
Chromosomal Location153065955-153081735 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153078601 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 393 (T393A)
Ref Sequence ENSEMBL: ENSMUSP00000105425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109800]
Predicted Effect probably benign
Transcript: ENSMUST00000109800
AA Change: T393A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: T393A

DomainStartEndE-ValueType
Blast:PTB 60 160 9e-16 BLAST
low complexity region 163 184 N/A INTRINSIC
low complexity region 206 222 N/A INTRINSIC
internal_repeat_1 236 251 1.67e-6 PROSPERO
low complexity region 252 261 N/A INTRINSIC
internal_repeat_1 262 280 1.67e-6 PROSPERO
low complexity region 372 389 N/A INTRINSIC
low complexity region 465 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127898
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter allele exhibit delayed wound healing and show impaired tumor growth, poor tumor vascularization, and decreased metastatic potential following injection of Lewis Lung Carcinoma (LLC) cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,523,612 V2288A probably damaging Het
Agbl4 T A 4: 110,580,121 N76K probably damaging Het
AI182371 A T 2: 35,086,112 V258E possibly damaging Het
Alg1 T A 16: 5,234,997 N80K probably benign Het
Ambra1 A G 2: 91,911,448 M963V possibly damaging Het
Avil C A 10: 127,008,306 Q245K probably benign Het
Caml A G 13: 55,631,882 N256S probably benign Het
Ccdc102a A C 8: 94,903,350 I521S possibly damaging Het
Cdh16 A G 8: 104,615,205 V91A probably damaging Het
Chd7 A G 4: 8,751,542 D13G probably damaging Het
Chsy1 T A 7: 66,171,782 D588E probably benign Het
Cilp T A 9: 65,278,609 V662E possibly damaging Het
Cog8 A G 8: 107,056,253 probably benign Het
Cpb2 T C 14: 75,265,383 V134A probably benign Het
Ctcfl T A 2: 173,101,919 H546L possibly damaging Het
Dclre1c A G 2: 3,437,033 D136G probably damaging Het
Dnah2 T A 11: 69,518,414 E379D probably damaging Het
Extl3 A G 14: 65,056,959 Y808H possibly damaging Het
Gm7247 T A 14: 51,365,355 N49K probably damaging Het
Gm8882 A T 6: 132,361,408 F282L unknown Het
Insr T C 8: 3,258,785 I84V probably benign Het
Ipo7 C T 7: 110,047,016 P541S probably benign Het
Kcnc3 T C 7: 44,591,492 S203P probably damaging Het
Myo5a A G 9: 75,215,120 D1732G probably benign Het
Olfr1419 T A 19: 11,870,331 N295I probably damaging Het
Olfr153 A G 2: 87,532,684 Y217C probably damaging Het
Olfr493 T C 7: 108,346,127 I285V probably benign Het
Olfr646 C A 7: 104,107,150 Y290* probably null Het
Olfr986 T C 9: 40,187,601 V162A probably benign Het
Pde3a T A 6: 141,459,700 L426* probably null Het
Pkd1 T A 17: 24,578,115 D8E possibly damaging Het
Polr3a A T 14: 24,467,040 Y714* probably null Het
Pramef25 T C 4: 143,949,147 T370A probably damaging Het
Rasgrf1 T C 9: 89,981,649 V556A possibly damaging Het
Rev3l T C 10: 39,827,945 Y1996H possibly damaging Het
Rttn T C 18: 89,053,573 L1248P probably damaging Het
Slc11a1 T C 1: 74,377,173 L53P probably damaging Het
Slc22a27 T C 19: 7,926,521 R84G probably damaging Het
Sptbn4 A G 7: 27,397,967 L1302P probably damaging Het
Srm T C 4: 148,594,129 V271A possibly damaging Het
Sycp2 A G 2: 178,380,862 I492T probably benign Het
Tmprss13 A G 9: 45,345,003 T472A probably damaging Het
Togaram1 A G 12: 64,966,710 D245G probably damaging Het
Vmn1r184 A T 7: 26,267,650 I274L probably benign Het
Vmn1r21 T C 6: 57,843,989 M157V probably benign Het
Wdr90 C A 17: 25,848,675 E1420* probably null Het
Zfp518a A T 19: 40,915,018 R1130S probably benign Het
Other mutations in Ccm2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Ccm2l APN 2 153080901 splice site probably benign
IGL01826:Ccm2l APN 2 153067933 splice site probably benign
IGL02821:Ccm2l APN 2 153067859 missense probably damaging 1.00
IGL03237:Ccm2l APN 2 153066002 utr 5 prime probably benign
R0103:Ccm2l UTSW 2 153067919 nonsense probably null
R0103:Ccm2l UTSW 2 153067919 nonsense probably null
R0420:Ccm2l UTSW 2 153070862 missense probably null 0.08
R0617:Ccm2l UTSW 2 153070900 missense probably damaging 0.99
R0760:Ccm2l UTSW 2 153072184 missense probably damaging 0.99
R1309:Ccm2l UTSW 2 153070924 missense probably damaging 0.97
R4787:Ccm2l UTSW 2 153079502 missense probably benign 0.00
R7106:Ccm2l UTSW 2 153070651 missense possibly damaging 0.45
R7159:Ccm2l UTSW 2 153070867 missense probably damaging 1.00
R8141:Ccm2l UTSW 2 153070871 missense probably damaging 1.00
Posted On2015-12-18