Incidental Mutation 'R6327:Ckap2l'
ID 510459
Institutional Source Beutler Lab
Gene Symbol Ckap2l
Ensembl Gene ENSMUSG00000048327
Gene Name cytoskeleton associated protein 2-like
Synonyms Radmis, 2010016H04Rik, 2610318C08Rik
MMRRC Submission 044481-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R6327 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 129110130-129139132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129127414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 255 (S255P)
Ref Sequence ENSEMBL: ENSMUSP00000056145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052708]
AlphaFold Q7TS74
Predicted Effect probably damaging
Transcript: ENSMUST00000052708
AA Change: S255P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: S255P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,655 (GRCm39) probably null Het
Birc6 C A 17: 74,969,774 (GRCm39) H383Q probably damaging Het
C2 C A 17: 35,083,079 (GRCm39) A431S probably benign Het
C3ar1 C T 6: 122,827,105 (GRCm39) V371M probably damaging Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Clca3a1 T A 3: 144,436,558 (GRCm39) I842F probably benign Het
Cmc2 G T 8: 117,620,896 (GRCm39) H28Q probably damaging Het
Col11a2 C T 17: 34,262,291 (GRCm39) P176L probably benign Het
Csmd3 T C 15: 47,744,783 (GRCm39) D1404G probably damaging Het
Dld G A 12: 31,382,190 (GRCm39) P506S probably benign Het
Dsg3 T C 18: 20,672,927 (GRCm39) M866T probably benign Het
Ehd1 T C 19: 6,348,375 (GRCm39) I451T possibly damaging Het
Fosb T C 7: 19,041,152 (GRCm39) T114A probably benign Het
Foxd4 T A 19: 24,878,198 (GRCm39) M1L possibly damaging Het
Fstl5 T A 3: 76,615,108 (GRCm39) I723N probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Hdlbp A G 1: 93,357,186 (GRCm39) S299P possibly damaging Het
Mast4 G A 13: 102,897,890 (GRCm39) R650C probably damaging Het
Micu3 A G 8: 40,819,238 (GRCm39) T306A probably benign Het
Mylk2 A G 2: 152,755,613 (GRCm39) Q259R possibly damaging Het
Nfkbiz T C 16: 55,642,325 (GRCm39) N31S probably damaging Het
Nisch A T 14: 30,893,444 (GRCm39) probably benign Het
Nudt17 T C 3: 96,615,080 (GRCm39) probably benign Het
Oprm1 A C 10: 6,780,063 (GRCm39) I242L probably damaging Het
Or13a26 T C 7: 140,284,616 (GRCm39) W151R probably damaging Het
Or14c39 T C 7: 86,343,760 (GRCm39) V32A probably benign Het
Or2y1d A C 11: 49,321,828 (GRCm39) H175P probably damaging Het
Otud6b A G 4: 14,826,496 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,519 (GRCm39) D606V probably damaging Het
Pcf11 T C 7: 92,308,817 (GRCm39) probably benign Het
Pom121l2 T C 13: 22,166,502 (GRCm39) S258P probably damaging Het
Rcsd1 T A 1: 165,483,403 (GRCm39) D196V possibly damaging Het
Sbf2 C T 7: 110,040,759 (GRCm39) R356Q probably damaging Het
Serpinf1 A G 11: 75,304,731 (GRCm39) probably null Het
Slc22a30 T G 19: 8,313,086 (GRCm39) probably benign Het
Strn4 G T 7: 16,550,384 (GRCm39) S36I probably benign Het
Taar6 A G 10: 23,861,177 (GRCm39) L123P probably damaging Het
Thbs1 G T 2: 117,943,137 (GRCm39) R5L unknown Het
Timp3 T C 10: 86,181,650 (GRCm39) Y174H probably benign Het
Trpm2 C T 10: 77,768,061 (GRCm39) V813M probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vcan A T 13: 89,852,951 (GRCm39) S670T probably damaging Het
Vmn1r65 A T 7: 6,011,651 (GRCm39) N194K 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
R1119:Ckap2l UTSW 2 129,114,492 (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
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'- CTTTCTGTTCAGTAGCAGGGC -3'
(R):5'- AAACCTGAGAAGCCAGATCCTG -3'

Sequencing Primer
(F):5'- TCAGTAGCAGGGCATGACTCTATC -3'
(R):5'- GAGAAGCCAGATCCTGAGTTACATTC -3'
Posted On 2018-04-02