Incidental Mutation 'R0760:Ccm2l'
ID 70034
Institutional Source Beutler Lab
Gene Symbol Ccm2l
Ensembl Gene ENSMUSG00000027474
Gene Name cerebral cavernous malformation 2-like
Synonyms BC020535
MMRRC Submission 038940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0760 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 152907875-152923655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 152914104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 298 (N298T)
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: N298T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: N298T

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
Meta Mutation Damage Score 0.2972 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.8%
Validation Efficiency 95% (39/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,324,661 (GRCm39) V120A possibly damaging Het
Adamts2 T C 11: 50,666,153 (GRCm39) V383A probably damaging Het
Alcam C T 16: 52,116,035 (GRCm39) V180M probably benign Het
Catip A G 1: 74,402,118 (GRCm39) probably benign Het
Ccni A G 5: 93,331,188 (GRCm39) V261A possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyb5d1 A G 11: 69,285,999 (GRCm39) F41L probably benign Het
Fbxw8 A G 5: 118,203,966 (GRCm39) probably null Het
Garin2 A G 12: 78,761,927 (GRCm39) D197G probably damaging Het
Gpaa1 T C 15: 76,216,119 (GRCm39) I33T probably benign Het
Grip1 T A 10: 119,853,983 (GRCm39) S512T probably damaging Het
Gtpbp1 G A 15: 79,603,356 (GRCm39) G140E probably damaging Het
Hspa4l T A 3: 40,739,155 (GRCm39) L681* probably null Het
Hspg2 A G 4: 137,239,660 (GRCm39) T456A probably damaging Het
Igkv3-1 A T 6: 70,681,119 (GRCm39) D106V probably damaging Het
Inhbc C T 10: 127,193,237 (GRCm39) G260S probably damaging Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Kif5c T C 2: 49,578,765 (GRCm39) I131T probably damaging Het
Kmt2c A G 5: 25,558,315 (GRCm39) Y1133H possibly damaging Het
Lama2 A G 10: 26,920,429 (GRCm39) probably null Het
N4bp1 A G 8: 87,573,540 (GRCm39) Y744H probably damaging Het
Or14j7 C T 17: 38,235,005 (GRCm39) Q183* probably null Het
Or1n2 A G 2: 36,797,233 (GRCm39) S92G probably benign Het
Ovol2 A G 2: 144,173,679 (GRCm39) probably null Het
Pappa2 C A 1: 158,544,531 (GRCm39) probably null Het
Pcdh10 G A 3: 45,335,005 (GRCm39) E440K probably benign Het
Pcsk4 A G 10: 80,161,775 (GRCm39) probably benign Het
Plcl2 A G 17: 50,915,802 (GRCm39) N937S possibly damaging Het
Ppp6r1 A G 7: 4,642,722 (GRCm39) F541L probably benign Het
Rad54l2 A G 9: 106,596,805 (GRCm39) probably null Het
Ranbp2 C T 10: 58,312,613 (GRCm39) P1111L possibly damaging Het
Rasal3 A G 17: 32,611,146 (GRCm39) F929S probably benign Het
Rnf111 A G 9: 70,336,960 (GRCm39) V909A probably damaging Het
Rnf168 A G 16: 32,117,204 (GRCm39) probably null Het
Slc2a5 T C 4: 150,224,124 (GRCm39) L244P probably benign Het
Snta1 T A 2: 154,222,860 (GRCm39) I288F probably damaging Het
Sv2a G A 3: 96,095,498 (GRCm39) C297Y probably damaging Het
Trim44 C T 2: 102,230,905 (GRCm39) probably benign Het
Uggt1 A T 1: 36,200,805 (GRCm39) I1164N possibly 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
IGL02821:Ccm2l APN 2 152,909,779 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGCGATATCCTGCTACTGAGCCC -3'
(R):5'- ACGAATGACGGCAAAGCGTCTG -3'

Sequencing Primer
(F):5'- TGCTACTGAGCCCCCAAAC -3'
(R):5'- tcttgaactcacctgctttcc -3'
Posted On 2013-09-30