Incidental Mutation 'R2047:Ckap2'
ID 222117
Institutional Source Beutler Lab
Gene Symbol Ckap2
Ensembl Gene ENSMUSG00000037725
Gene Name cytoskeleton associated protein 2
Synonyms LB1
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22658176-22675835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22658763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 660 (V660A)
Ref Sequence ENSEMBL: ENSMUSP00000039518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000046916] [ENSMUST00000110730]
AlphaFold Q3V1H1
Predicted Effect probably benign
Transcript: ENSMUST00000033865
SMART Domains Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 444 8e-49 BLAST
low complexity region 471 485 N/A INTRINSIC
low complexity region 495 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000046916
AA Change: V660A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: V660A

DomainStartEndE-ValueType
low complexity region 221 234 N/A INTRINSIC
Pfam:CKAP2_C 315 651 3.9e-168 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110730
SMART Domains Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 446 1e-48 BLAST
low complexity region 473 487 N/A INTRINSIC
low complexity region 497 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211629
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in Ckap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Ckap2 APN 8 22,659,774 (GRCm39) missense probably damaging 1.00
IGL01519:Ckap2 APN 8 22,658,914 (GRCm39) missense probably benign 0.00
R0530:Ckap2 UTSW 8 22,665,988 (GRCm39) splice site probably benign
R1638:Ckap2 UTSW 8 22,665,812 (GRCm39) missense possibly damaging 0.84
R1965:Ckap2 UTSW 8 22,665,803 (GRCm39) missense possibly damaging 0.95
R3023:Ckap2 UTSW 8 22,665,877 (GRCm39) missense possibly damaging 0.95
R3843:Ckap2 UTSW 8 22,665,774 (GRCm39) missense probably damaging 0.98
R4587:Ckap2 UTSW 8 22,666,992 (GRCm39) missense probably benign
R4754:Ckap2 UTSW 8 22,658,911 (GRCm39) missense possibly damaging 0.93
R4847:Ckap2 UTSW 8 22,665,084 (GRCm39) missense probably damaging 0.98
R5354:Ckap2 UTSW 8 22,667,581 (GRCm39) missense probably damaging 0.96
R5423:Ckap2 UTSW 8 22,667,212 (GRCm39) missense probably benign 0.33
R5717:Ckap2 UTSW 8 22,665,063 (GRCm39) missense probably damaging 0.98
R6518:Ckap2 UTSW 8 22,663,319 (GRCm39) missense probably benign 0.41
R7088:Ckap2 UTSW 8 22,659,882 (GRCm39) missense possibly damaging 0.59
R7466:Ckap2 UTSW 8 22,667,402 (GRCm39) missense probably benign 0.02
R7943:Ckap2 UTSW 8 22,665,090 (GRCm39) missense probably damaging 0.97
R8558:Ckap2 UTSW 8 22,658,811 (GRCm39) missense possibly damaging 0.92
R9224:Ckap2 UTSW 8 22,659,954 (GRCm39) missense possibly damaging 0.93
R9366:Ckap2 UTSW 8 22,658,988 (GRCm39) missense possibly damaging 0.71
R9454:Ckap2 UTSW 8 22,665,899 (GRCm39) nonsense probably null
X0058:Ckap2 UTSW 8 22,666,814 (GRCm39) missense probably benign
Z1176:Ckap2 UTSW 8 22,659,810 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTCCTAAAGTCAATTCCATCATC -3'
(R):5'- GTTCCTGACACCAGTGAGAC -3'

Sequencing Primer
(F):5'- TAATTAGTAAAGTGAAGCAGCCAAC -3'
(R):5'- GGCGCATTCAAGACAAGA -3'
Posted On 2014-08-25