Incidental Mutation 'IGL01519:Ckap2'
ID89399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckap2
Ensembl Gene ENSMUSG00000037725
Gene Namecytoskeleton associated protein 2
SynonymsLB1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.314) question?
Stock #IGL01519
Quality Score
Status
Chromosome8
Chromosomal Location22168160-22185819 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 22168898 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 610 (R610C)
Ref Sequence ENSEMBL: ENSMUSP00000039518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000046916] [ENSMUST00000110730]
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: R610C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: R610C

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
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap17b T C X: 36,611,850 D668G probably damaging Het
Btbd3 A G 2: 138,279,777 M127V probably benign Het
Btbd9 T C 17: 30,299,601 T462A possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chd1 G A 17: 17,378,569 G98R probably damaging Het
Col18a1 C T 10: 77,059,323 R1168H probably damaging Het
Csmd3 G A 15: 47,596,850 T3515I probably benign Het
Dcn A G 10: 97,483,523 Q54R probably damaging Het
Dock11 A G X: 35,963,353 I86V probably benign Het
Dram2 T A 3: 106,571,629 I179N possibly damaging Het
Fbn1 C T 2: 125,317,019 M2275I probably benign Het
Gga2 A G 7: 122,002,188 S231P probably damaging Het
Gk2 T A 5: 97,455,787 L397F probably damaging Het
Gm10436 T C 12: 88,177,561 R161G probably benign Het
Gm8122 T A 14: 43,235,239 I22L unknown Het
Golga4 A G 9: 118,527,092 E104G probably damaging Het
Herc2 G A 7: 56,103,950 R699H probably damaging Het
Hrh1 A C 6: 114,480,301 E181A probably damaging Het
Lsm8 T C 6: 18,851,700 F50S probably damaging Het
Olfr161 T A 16: 3,592,534 I46N probably damaging Het
Pard6g A G 18: 80,079,856 D35G probably benign Het
Plod2 G A 9: 92,595,295 V347I probably benign Het
Snx13 T C 12: 35,138,472 probably benign Het
Taf1 T A X: 101,562,806 probably benign Het
Tarsl2 A G 7: 65,663,886 Y351C probably damaging Het
Tenm4 C A 7: 96,895,177 D2133E probably damaging Het
Thap7 A C 16: 17,528,745 probably benign Het
Tpr T A 1: 150,431,168 S1505T probably benign Het
Trav9-2 C T 14: 53,591,352 R60W probably damaging Het
Ttn A G 2: 76,878,348 probably benign Het
Other mutations in Ckap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Ckap2 APN 8 22169758 missense probably damaging 1.00
R0530:Ckap2 UTSW 8 22175972 splice site probably benign
R1638:Ckap2 UTSW 8 22175796 missense possibly damaging 0.84
R1965:Ckap2 UTSW 8 22175787 missense possibly damaging 0.95
R2047:Ckap2 UTSW 8 22168747 missense probably benign 0.03
R3023:Ckap2 UTSW 8 22175861 missense possibly damaging 0.95
R3843:Ckap2 UTSW 8 22175758 missense probably damaging 0.98
R4587:Ckap2 UTSW 8 22176976 missense probably benign
R4754:Ckap2 UTSW 8 22168895 missense possibly damaging 0.93
R4847:Ckap2 UTSW 8 22175068 missense probably damaging 0.98
R5354:Ckap2 UTSW 8 22177565 missense probably damaging 0.96
R5423:Ckap2 UTSW 8 22177196 missense probably benign 0.33
R5717:Ckap2 UTSW 8 22175047 missense probably damaging 0.98
R6518:Ckap2 UTSW 8 22173303 missense probably benign 0.41
R7088:Ckap2 UTSW 8 22169866 missense not run
X0058:Ckap2 UTSW 8 22176798 missense probably benign
Posted On2013-12-03