Incidental Mutation 'IGL02821:Ccm2l'
ID 361015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccm2l
Ensembl Gene ENSMUSG00000027474
Gene Name cerebral cavernous malformation 2-like
Synonyms BC020535
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02821
Quality Score
Status
Chromosome 2
Chromosomal Location 152907875-152923655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152909779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 44 (L44F)
Ref Sequence ENSEMBL: ENSMUSP00000105425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109800] [ENSMUST00000129377]
AlphaFold Q8VCC6
Predicted Effect probably damaging
Transcript: ENSMUST00000109800
AA Change: L44F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: L44F

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
AA Change: L44F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474
AA Change: L44F

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Cd177 A T 7: 24,443,818 (GRCm39) L760Q probably damaging Het
Cd177 G T 7: 24,443,819 (GRCm39) L760M probably damaging Het
Cfap69 T C 5: 5,714,017 (GRCm39) E5G probably benign Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Evc T A 5: 37,483,740 (GRCm39) I187F probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Or8d4 T G 9: 40,038,561 (GRCm39) E232A probably benign Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Slc46a3 G A 5: 147,822,822 (GRCm39) T340M probably benign Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,470,458 (GRCm39) N310S probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P probably damaging Het
Other mutations in Ccm2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Ccm2l APN 2 152,922,821 (GRCm39) splice site probably benign
IGL01826:Ccm2l APN 2 152,909,853 (GRCm39) splice site probably benign
IGL02961:Ccm2l APN 2 152,920,521 (GRCm39) missense probably benign 0.03
IGL03237:Ccm2l APN 2 152,907,922 (GRCm39) utr 5 prime probably benign
R0103:Ccm2l UTSW 2 152,909,839 (GRCm39) nonsense probably null
R0103:Ccm2l UTSW 2 152,909,839 (GRCm39) nonsense probably null
R0420:Ccm2l UTSW 2 152,912,782 (GRCm39) missense probably null 0.08
R0617:Ccm2l UTSW 2 152,912,820 (GRCm39) missense probably damaging 0.99
R0760:Ccm2l UTSW 2 152,914,104 (GRCm39) missense probably damaging 0.99
R1309:Ccm2l UTSW 2 152,912,844 (GRCm39) missense probably damaging 0.97
R4787:Ccm2l UTSW 2 152,921,422 (GRCm39) missense probably benign 0.00
R7106:Ccm2l UTSW 2 152,912,571 (GRCm39) missense possibly damaging 0.45
R7159:Ccm2l UTSW 2 152,912,787 (GRCm39) missense probably damaging 1.00
R8141:Ccm2l UTSW 2 152,912,791 (GRCm39) missense probably damaging 1.00
R8751:Ccm2l UTSW 2 152,909,695 (GRCm39) missense probably benign 0.43
R8852:Ccm2l UTSW 2 152,916,788 (GRCm39) missense probably damaging 1.00
R8971:Ccm2l UTSW 2 152,909,756 (GRCm39) missense probably damaging 1.00
R9046:Ccm2l UTSW 2 152,916,720 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18