Incidental Mutation 'IGL01826:Ccm2l'
ID154678
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 #IGL01826
Quality Score
Status
Chromosome2
Chromosomal Location153065955-153081735 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 153067933 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109800] [ENSMUST00000129377]
Predicted Effect probably benign
Transcript: ENSMUST00000109800
SMART Domains Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474

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: ENSMUST00000127549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127898
Predicted Effect probably benign
Transcript: ENSMUST00000129377
SMART Domains Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474

DomainStartEndE-ValueType
Blast:PTB 60 136 7e-9 BLAST
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T C 8: 84,166,672 V156A probably benign Het
Abcc8 T A 7: 46,124,849 D769V probably benign Het
Afm T A 5: 90,524,928 probably benign Het
Ago3 A G 4: 126,403,282 S181P probably damaging Het
Ccdc114 T A 7: 45,948,386 S573R possibly damaging Het
Clhc1 A G 11: 29,553,765 probably null Het
Ear6 A G 14: 51,854,265 I90V probably benign Het
Fsip2 T G 2: 82,982,639 S3101A probably benign Het
Gpsm1 C A 2: 26,326,302 H384N probably damaging Het
Itgal A G 7: 127,302,146 I235V probably benign Het
Lrp1b C A 2: 41,449,234 G752C probably damaging Het
Ltbp1 A G 17: 75,292,840 D659G possibly damaging Het
Plb1 A C 5: 32,281,145 D208A probably damaging Het
Plce1 T A 19: 38,739,238 probably benign Het
Stim1 A G 7: 102,427,075 probably benign Het
Sult4a1 A T 15: 84,090,046 S141T probably damaging Het
Tas2r119 A T 15: 32,177,402 K38M probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Zfp451 G A 1: 33,782,162 T203M probably damaging Het
Other mutations in Ccm2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Ccm2l APN 2 153080901 splice site probably benign
IGL02821:Ccm2l APN 2 153067859 missense probably damaging 1.00
IGL02961:Ccm2l APN 2 153078601 missense probably benign 0.03
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 On2014-02-04