Incidental Mutation 'R7220:Ckap2l'
ID 561714
Institutional Source Beutler Lab
Gene Symbol Ckap2l
Ensembl Gene ENSMUSG00000048327
Gene Name cytoskeleton associated protein 2-like
Synonyms Radmis, 2010016H04Rik, 2610318C08Rik
MMRRC Submission 045292-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R7220 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 129110130-129139132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129117436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 580 (E580K)
Ref Sequence ENSEMBL: ENSMUSP00000056145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052708]
AlphaFold Q7TS74
Predicted Effect probably damaging
Transcript: ENSMUST00000052708
AA Change: E580K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: E580K

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: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,837,337 (GRCm39) H325Q probably damaging Het
Aasdh T C 5: 77,049,772 (GRCm39) I75V probably benign Het
Abca14 G A 7: 119,826,667 (GRCm39) D438N possibly damaging Het
Abca8a T A 11: 109,980,793 (GRCm39) I82F probably benign Het
Abca8b G T 11: 109,872,543 (GRCm39) N19K probably damaging Het
Acan A G 7: 78,757,896 (GRCm39) N506S Het
Alox12e C A 11: 70,206,731 (GRCm39) R652L probably benign Het
Atad3a A G 4: 155,838,498 (GRCm39) V173A probably benign Het
Atl3 A G 19: 7,506,433 (GRCm39) K326R probably null Het
Atm G T 9: 53,423,217 (GRCm39) C636* probably null Het
Atp2c2 G A 8: 120,472,300 (GRCm39) M451I probably benign Het
Best1 A T 19: 9,969,479 (GRCm39) M193K probably benign Het
Bmper G T 9: 23,310,651 (GRCm39) G362C probably damaging Het
Brd4 T A 17: 32,444,557 (GRCm39) Y139F unknown Het
Bzw2 A T 12: 36,173,950 (GRCm39) I108N possibly damaging Het
Cbs C A 17: 31,838,191 (GRCm39) V353L probably benign Het
Ceacam20 A G 7: 19,701,678 (GRCm39) T22A probably damaging Het
Ckmt1 T C 2: 121,189,374 (GRCm39) L15P possibly damaging Het
Clec18a G T 8: 111,808,204 (GRCm39) P66H probably benign Het
Cma1 G T 14: 56,180,120 (GRCm39) T95K probably benign Het
Csmd3 A G 15: 48,320,994 (GRCm39) V272A probably damaging Het
Ctnna3 A T 10: 64,670,368 (GRCm39) E632D probably benign Het
Ctsc T C 7: 87,946,361 (GRCm39) L130P probably damaging Het
Frmpd2 A T 14: 33,229,432 (GRCm39) R339S probably damaging Het
Frrs1 C A 3: 116,674,425 (GRCm39) S69* probably null Het
Gcc2 A T 10: 58,116,416 (GRCm39) E1108D probably benign Het
Gkn1 A T 6: 87,326,135 (GRCm39) probably null Het
Gtf2a1 A T 12: 91,534,498 (GRCm39) M252K probably benign Het
H2-Ob T C 17: 34,460,234 (GRCm39) F115S probably damaging Het
Ighv1-53 T C 12: 115,122,135 (GRCm39) N80S probably benign Het
Ighv1-67 T C 12: 115,567,666 (GRCm39) K82R probably benign Het
Ints1 A T 5: 139,747,828 (GRCm39) I1193N possibly damaging Het
Kmt2c A G 5: 25,549,923 (GRCm39) F1353L probably damaging Het
Luc7l C T 17: 26,472,219 (GRCm39) probably benign Het
Man1a A C 10: 53,796,331 (GRCm39) S454A possibly damaging Het
Mars2 C A 1: 55,277,222 (GRCm39) A275D probably damaging Het
Nrde2 A G 12: 100,097,178 (GRCm39) V874A probably benign Het
Ociad1 A G 5: 73,470,809 (GRCm39) T244A probably benign Het
Or10j2 A G 1: 173,097,811 (GRCm39) Y23C possibly damaging Het
Or3a10 A T 11: 73,935,589 (GRCm39) D170E possibly damaging Het
Or8c9 A T 9: 38,241,046 (GRCm39) L51F probably damaging Het
Ovca2 A G 11: 75,069,501 (GRCm39) C41R possibly damaging Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdh15 G A 10: 74,178,441 (GRCm39) S566N possibly damaging Het
Pde3b A G 7: 114,135,297 (GRCm39) I1038M probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Pkhd1 T A 1: 20,593,350 (GRCm39) T1588S possibly damaging Het
Ppig A G 2: 69,580,320 (GRCm39) D618G unknown Het
Pramel17 A G 4: 101,694,565 (GRCm39) F106S probably benign Het
Prorp G A 12: 55,351,200 (GRCm39) V170M possibly damaging Het
Prss51 A T 14: 64,333,444 (GRCm39) K18* probably null Het
Ptpra T A 2: 130,386,417 (GRCm39) D622E probably damaging Het
Ptprs A T 17: 56,725,988 (GRCm39) F1431L probably benign Het
Pxdn A G 12: 30,044,479 (GRCm39) I486V probably benign Het
Rnpc3 G A 3: 113,422,004 (GRCm39) A77V probably benign Het
Rtl10 T A 16: 18,320,026 (GRCm39) C85* probably null Het
Skint10 A G 4: 112,586,170 (GRCm39) S149P probably benign Het
Slc17a8 A C 10: 89,412,275 (GRCm39) V570G probably benign Het
Slc25a42 A T 8: 70,642,148 (GRCm39) V98E probably damaging Het
Smco2 A G 6: 146,760,363 (GRCm39) E73G probably benign Het
Ss18 T C 18: 14,812,477 (GRCm39) Y38C probably damaging Het
Sspo T A 6: 48,453,540 (GRCm39) C2909* probably null Het
Tbccd1 A G 16: 22,652,747 (GRCm39) Y125H probably benign Het
Tdrd9 A G 12: 111,980,888 (GRCm39) T446A probably damaging Het
Tecta G T 9: 42,255,183 (GRCm39) Q1672K probably benign Het
Tek G C 4: 94,692,541 (GRCm39) W216C probably damaging Het
Timm17a C T 1: 135,241,313 (GRCm39) probably null Het
Tlr4 A T 4: 66,758,188 (GRCm39) H327L probably benign Het
Trim33 T C 3: 103,234,109 (GRCm39) I449T possibly damaging Het
Vmn1r57 A G 7: 5,223,559 (GRCm39) N28S probably null Het
Vmn2r117 T A 17: 23,696,177 (GRCm39) H410L probably damaging Het
Vmn2r16 A G 5: 109,508,772 (GRCm39) E500G probably damaging Het
Wif1 A G 10: 120,926,019 (GRCm39) N245S 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
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
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'- TACAAAACCCTGGCTTCACTGTG -3'
(R):5'- AGATATAGGCATTAACAGTGACGTG -3'

Sequencing Primer
(F):5'- TTCACTGTGCTATCACCAGGGG -3'
(R):5'- GTGACGTGGTAAAAATTATATCTGGC -3'
Posted On 2019-06-26