Incidental Mutation 'R1119:Ckap2l'
ID 97679
Institutional Source Beutler Lab
Gene Symbol Ckap2l
Ensembl Gene ENSMUSG00000048327
Gene Name cytoskeleton associated protein 2-like
Synonyms Radmis, 2010016H04Rik, 2610318C08Rik
MMRRC Submission 039192-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R1119 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 129110130-129139132 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 129114492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052708]
AlphaFold Q7TS74
Predicted Effect probably benign
Transcript: ENSMUST00000052708
SMART Domains Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
Pfam:CKAP2_C 425 644 3e-32 PFAM
Pfam:CKAP2_C 675 734 6.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141964
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nxpe5 G A 5: 138,237,658 (GRCm39) D61N probably benign Het
Ogdh T A 11: 6,290,544 (GRCm39) H376Q probably damaging Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Sgcb T A 5: 73,801,757 (GRCm39) K36I probably damaging Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Thnsl1 A G 2: 21,217,857 (GRCm39) N16S probably damaging Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging Het
Other mutations in Ckap2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Ckap2l APN 2 129,111,136 (GRCm39) missense probably damaging 1.00
IGL02120:Ckap2l APN 2 129,127,542 (GRCm39) missense possibly damaging 0.58
IGL03085:Ckap2l APN 2 129,126,967 (GRCm39) missense probably benign 0.00
IGL03175:Ckap2l APN 2 129,127,437 (GRCm39) missense probably benign 0.01
IGL03333:Ckap2l APN 2 129,138,228 (GRCm39) splice site probably null
R0196:Ckap2l UTSW 2 129,127,342 (GRCm39) missense probably benign 0.43
R0501:Ckap2l UTSW 2 129,127,411 (GRCm39) missense possibly damaging 0.78
R0715:Ckap2l UTSW 2 129,127,636 (GRCm39) missense probably benign 0.02
R0834:Ckap2l UTSW 2 129,138,224 (GRCm39) splice site probably benign
R1561:Ckap2l UTSW 2 129,112,645 (GRCm39) missense probably benign 0.01
R1677:Ckap2l UTSW 2 129,127,087 (GRCm39) missense possibly damaging 0.86
R1823:Ckap2l UTSW 2 129,117,499 (GRCm39) missense probably damaging 1.00
R1971:Ckap2l UTSW 2 129,127,342 (GRCm39) missense possibly damaging 0.92
R4803:Ckap2l UTSW 2 129,111,176 (GRCm39) missense probably damaging 1.00
R5214:Ckap2l UTSW 2 129,127,389 (GRCm39) missense probably benign 0.02
R5264:Ckap2l UTSW 2 129,127,299 (GRCm39) missense probably benign 0.01
R5297:Ckap2l UTSW 2 129,127,290 (GRCm39) missense possibly damaging 0.56
R5535:Ckap2l UTSW 2 129,127,762 (GRCm39) missense probably benign 0.00
R5606:Ckap2l UTSW 2 129,127,959 (GRCm39) missense probably damaging 0.98
R6327:Ckap2l UTSW 2 129,127,414 (GRCm39) missense probably damaging 1.00
R6489:Ckap2l UTSW 2 129,111,034 (GRCm39) missense possibly damaging 0.85
R6726:Ckap2l UTSW 2 129,111,114 (GRCm39) missense probably damaging 1.00
R7199:Ckap2l UTSW 2 129,126,975 (GRCm39) missense probably benign 0.25
R7220:Ckap2l UTSW 2 129,117,436 (GRCm39) missense probably damaging 1.00
R7329:Ckap2l UTSW 2 129,127,284 (GRCm39) missense possibly damaging 0.56
R7374:Ckap2l UTSW 2 129,126,883 (GRCm39) missense probably damaging 1.00
R7383:Ckap2l UTSW 2 129,111,172 (GRCm39) missense possibly damaging 0.88
R7484:Ckap2l UTSW 2 129,114,455 (GRCm39) missense possibly damaging 0.82
R7611:Ckap2l UTSW 2 129,127,600 (GRCm39) missense possibly damaging 0.88
R7868:Ckap2l UTSW 2 129,127,209 (GRCm39) missense probably damaging 1.00
R8338:Ckap2l UTSW 2 129,126,939 (GRCm39) missense probably damaging 0.99
R8514:Ckap2l UTSW 2 129,127,788 (GRCm39) missense possibly damaging 0.61
R8790:Ckap2l UTSW 2 129,111,172 (GRCm39) missense possibly damaging 0.88
R9043:Ckap2l UTSW 2 129,126,892 (GRCm39) missense probably damaging 0.99
R9215:Ckap2l UTSW 2 129,123,826 (GRCm39) missense possibly damaging 0.74
R9496:Ckap2l UTSW 2 129,112,595 (GRCm39) missense probably benign 0.37
R9526:Ckap2l UTSW 2 129,111,161 (GRCm39) nonsense probably null
RF037:Ckap2l UTSW 2 129,112,569 (GRCm39) small deletion probably benign
Z1176:Ckap2l UTSW 2 129,127,282 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCTGTGGGGAAAATAACCTTTG -3'
(R):5'- AAACGCCTGCATGATGGGACTG -3'

Sequencing Primer
(F):5'- GTCAATCAGTGGATGATTACAGCTC -3'
(R):5'- AGTTGAACCTGTGGCTCAATC -3'
Posted On 2014-01-05