Incidental Mutation 'R0103:Ccm2l'
ID17885
Institutional Source Beutler Lab
Gene Symbol Ccm2l
Ensembl Gene ENSMUSG00000027474
Gene Namecerebral cavernous malformation 2-like
Synonyms
MMRRC Submission 038389-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0103 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location153065955-153081735 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 153067919 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 64 (E64*)
Ref Sequence ENSEMBL: ENSMUSP00000122732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109800] [ENSMUST00000129377]
Predicted Effect probably null
Transcript: ENSMUST00000109800
AA Change: E64*
SMART Domains Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
AA Change: E64*

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 null
Transcript: ENSMUST00000129377
AA Change: E64*
SMART Domains Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474
AA Change: E64*

DomainStartEndE-ValueType
Blast:PTB 60 136 7e-9 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 89.4%
  • 3x: 86.4%
  • 10x: 77.8%
  • 20x: 63.0%
Validation Efficiency 91% (89/98)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,273,951 R443S probably damaging Het
Adgrl3 A G 5: 81,792,347 probably benign Het
Anapc1 T C 2: 128,680,452 probably benign Het
Aqr T A 2: 114,149,016 I313F probably damaging Het
Arfgap3 A T 15: 83,322,721 probably benign Het
Asah2 G T 19: 32,018,977 H374N probably benign Het
Ccdc106 C A 7: 5,057,545 Q35K probably benign Het
Cep85l A T 10: 53,278,174 D776E possibly damaging Het
Cfap52 T A 11: 67,925,125 I611F possibly damaging Het
Cldn22 C T 8: 47,824,554 T9M probably benign Het
Coa7 T C 4: 108,338,141 L89P possibly damaging Het
Cox7a2l A T 17: 83,514,272 Y2N probably damaging Het
Cyp27a1 A C 1: 74,735,915 E301A probably benign Het
Dennd4c A G 4: 86,812,446 Y860C probably benign Het
Dhx58 T C 11: 100,695,270 T642A probably damaging Het
Dlg4 A G 11: 70,031,193 Y87C probably damaging Het
Dnah6 C T 6: 73,092,172 E2511K probably damaging Het
Entpd5 C A 12: 84,396,943 E9* probably null Het
Fbln2 A C 6: 91,271,550 I1066L probably benign Het
Fhl2 C T 1: 43,153,221 R4H probably benign Het
Frmpd1 T A 4: 45,229,884 I17K probably damaging Het
Gbp7 T A 3: 142,546,538 N627K probably benign Het
Gm16432 A G 1: 178,116,205 N703D unknown Het
Gnptab A G 10: 88,429,519 Y331C probably damaging Het
Hibadh T A 6: 52,557,877 M173L probably benign Het
Itga1 T C 13: 115,016,254 I211V probably benign Het
Keg1 A T 19: 12,718,916 I155F possibly damaging Het
Ltb A G 17: 35,195,040 probably benign Het
Manea A T 4: 26,329,080 probably null Het
Ms4a4a T A 19: 11,392,684 M202K possibly damaging Het
Myo3a T G 2: 22,544,322 probably benign Het
Myo9b C T 8: 71,323,849 probably benign Het
Nanos3 C T 8: 84,176,134 R133Q probably damaging Het
Ncor1 G T 11: 62,343,045 Q444K possibly damaging Het
Nek7 A T 1: 138,544,242 C53* probably null Het
Obscn G T 11: 59,062,696 Y4044* probably null Het
Pcsk6 T C 7: 65,929,097 probably benign Het
Phax T A 18: 56,562,713 V7D probably benign Het
Phxr4 T C 9: 13,431,791 probably benign Het
Pkhd1 T A 1: 20,523,359 D1510V probably benign Het
Pkhd1l1 T C 15: 44,597,141 C4249R probably benign Het
Prpf39 T C 12: 65,055,283 V378A possibly damaging Het
Psd2 A G 18: 36,004,717 N455S probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rab4b A G 7: 27,174,502 I117T probably benign Het
Rad9b A T 5: 122,331,527 V348E probably damaging Het
Rcor1 T C 12: 111,109,778 probably benign Het
Rhoc A T 3: 104,791,991 E32V possibly damaging Het
Rnf40 T G 7: 127,600,571 V925G probably damaging Het
Slc25a32 A T 15: 39,099,897 Y176* probably null Het
Slc7a1 T A 5: 148,352,426 K4* probably null Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Taar4 A T 10: 23,961,406 N305Y probably damaging Het
Tcaf1 G T 6: 42,686,390 D185E probably benign Het
Tmem138 T C 19: 10,574,952 N62S possibly damaging Het
Tnfrsf25 C T 4: 152,116,948 P65S possibly damaging Het
Trp53bp1 A T 2: 121,236,759 S495R possibly damaging Het
Trpv3 T C 11: 73,293,979 F597S probably damaging Het
Ugt2a3 A G 5: 87,336,718 V149A possibly damaging Het
Ush2a T G 1: 188,319,070 I251R possibly damaging Het
Vamp4 T C 1: 162,589,539 C114R possibly damaging Het
Zc3h13 T A 14: 75,330,468 V1067E probably damaging Het
Zcwpw1 G A 5: 137,810,113 W274* probably null 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
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
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 On2013-03-25