Incidental Mutation 'R4604:Ckap5'
ID 345842
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission 041816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4604 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91357107-91451009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91408476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 890 (E890D)
Ref Sequence ENSEMBL: ENSMUSP00000046263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046769] [ENSMUST00000099716] [ENSMUST00000111337] [ENSMUST00000111338]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046769
AA Change: E890D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: E890D

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1685 1698 N/A INTRINSIC
low complexity region 1759 1771 N/A INTRINSIC
low complexity region 1981 1994 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099716
AA Change: E890D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: E890D

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1685 1698 N/A INTRINSIC
low complexity region 1759 1771 N/A INTRINSIC
low complexity region 1909 1921 N/A INTRINSIC
low complexity region 2002 2015 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111337
AA Change: E890D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: E890D

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1625 1638 N/A INTRINSIC
low complexity region 1699 1711 N/A INTRINSIC
low complexity region 1849 1861 N/A INTRINSIC
low complexity region 1942 1955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111338
AA Change: E890D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: E890D

DomainStartEndE-ValueType
TOG 1 227 9.27e-53 SMART
low complexity region 234 261 N/A INTRINSIC
TOG 269 506 1.36e-77 SMART
low complexity region 537 551 N/A INTRINSIC
TOG 586 818 1.29e-69 SMART
low complexity region 833 845 N/A INTRINSIC
TOG 850 1082 3.27e-71 SMART
TOG 1191 1429 3.32e-63 SMART
low complexity region 1685 1698 N/A INTRINSIC
low complexity region 1759 1771 N/A INTRINSIC
low complexity region 1909 1921 N/A INTRINSIC
low complexity region 2002 2015 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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 which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik C T 2: 156,699,074 (GRCm39) probably benign Het
Abcb6 G A 1: 75,156,521 (GRCm39) T81I probably benign Het
Acp6 A G 3: 97,083,075 (GRCm39) K362R probably benign Het
Adam26a A G 8: 44,023,088 (GRCm39) M134T probably benign Het
Ankrd27 C T 7: 35,327,915 (GRCm39) P812S probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp2a1 G A 7: 126,047,795 (GRCm39) R672C probably damaging Het
Atxn2 G T 5: 121,919,406 (GRCm39) W371C probably damaging Het
B3gnt2 T TTCACAAA 11: 22,786,426 (GRCm39) probably null Het
Btnl6 T A 17: 34,727,435 (GRCm39) D365V possibly damaging Het
Ccdc80 T A 16: 44,915,928 (GRCm39) L228Q probably damaging Het
Cdc42bpa A G 1: 179,936,759 (GRCm39) H718R probably benign Het
Cdh18 A G 15: 23,474,454 (GRCm39) K775E probably benign Het
Cdh23 T G 10: 60,173,445 (GRCm39) N1679T possibly damaging Het
Cep192 T A 18: 67,948,993 (GRCm39) D271E possibly damaging Het
Cfap70 G T 14: 20,493,729 (GRCm39) T124K probably benign Het
Col22a1 G T 15: 71,824,188 (GRCm39) P569T probably benign Het
Colq A T 14: 31,267,060 (GRCm39) L150Q possibly damaging Het
Csf1 T C 3: 107,664,278 (GRCm39) probably null Het
Csmd3 A T 15: 47,868,211 (GRCm39) S770T possibly damaging Het
Cul9 C A 17: 46,841,072 (GRCm39) V733L probably damaging Het
Cyp2c55 A G 19: 39,019,830 (GRCm39) D256G possibly damaging Het
Dclk3 A T 9: 111,298,253 (GRCm39) D599V probably damaging Het
Defb26 T A 2: 152,350,104 (GRCm39) I59F possibly damaging Het
Dnah6 A G 6: 73,106,643 (GRCm39) V1646A possibly damaging Het
Dnm2 T C 9: 21,415,960 (GRCm39) probably null Het
Dock6 A G 9: 21,713,836 (GRCm39) L1867P probably damaging Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Dync2h1 T C 9: 7,140,995 (GRCm39) H1344R probably benign Het
Enam A C 5: 88,652,142 (GRCm39) Q1217P possibly damaging Het
Fbf1 A T 11: 116,049,748 (GRCm39) D91E possibly damaging Het
Fbxo7 T G 10: 85,882,666 (GRCm39) W393G probably damaging Het
Gab2 A G 7: 96,953,420 (GRCm39) T599A probably damaging Het
Gfy T A 7: 44,826,612 (GRCm39) I409F possibly damaging Het
Gm19345 T A 7: 19,591,433 (GRCm39) probably null Het
Gm4787 A G 12: 81,425,987 (GRCm39) M57T probably benign Het
Gper1 A G 5: 139,412,480 (GRCm39) E275G probably damaging Het
Grik4 T C 9: 42,435,882 (GRCm39) E803G probably damaging Het
Gstm3 G A 3: 107,875,513 (GRCm39) P39L possibly damaging Het
Hax1 A T 3: 89,904,767 (GRCm39) V142D probably damaging Het
Hcn3 A T 3: 89,057,747 (GRCm39) I383N probably damaging Het
Hdac10 C A 15: 89,009,600 (GRCm39) probably null Het
Hipk3 A C 2: 104,269,674 (GRCm39) M505R probably damaging Het
Hivep1 C T 13: 42,313,225 (GRCm39) P1822S probably benign Het
Hsd17b13 G T 5: 104,104,124 (GRCm39) H281N unknown Het
Ilrun T C 17: 28,039,289 (GRCm39) D7G probably damaging Het
Irak2 T A 6: 113,649,848 (GRCm39) I222N probably damaging Het
Kalrn G A 16: 34,334,296 (GRCm39) L7F possibly damaging Het
Kcnma1 A G 14: 23,359,106 (GRCm39) probably null Het
Kcnn3 G T 3: 89,427,727 (GRCm39) probably benign Het
Lamb1 A C 12: 31,328,775 (GRCm39) D218A probably damaging Het
Lrrtm1 A T 6: 77,221,127 (GRCm39) N195Y probably damaging Het
Ltf A T 9: 110,851,409 (GRCm39) N72I probably damaging Het
Mcm4 A G 16: 15,447,527 (GRCm39) I479T probably damaging Het
Mfhas1 T C 8: 36,055,764 (GRCm39) S80P probably benign Het
Mknk1 A G 4: 115,735,224 (GRCm39) E364G probably damaging Het
Msh4 C T 3: 153,577,920 (GRCm39) C458Y probably damaging Het
Mtrr A T 13: 68,712,631 (GRCm39) probably null Het
Myo1a T C 10: 127,547,007 (GRCm39) W356R probably damaging Het
Nbea A G 3: 55,631,069 (GRCm39) V2186A probably benign Het
Nfe2l3 T C 6: 51,427,992 (GRCm39) S185P probably damaging Het
Nhsl1 A C 10: 18,407,158 (GRCm39) K1397Q probably damaging Het
Nmbr C T 10: 14,645,908 (GRCm39) R261W probably damaging Het
Npy2r A G 3: 82,448,365 (GRCm39) S137P probably damaging Het
Obscn C T 11: 58,971,031 (GRCm39) G2494D probably damaging Het
Obscn T C 11: 59,013,572 (GRCm39) K1092E probably damaging Het
Oosp2 A C 19: 11,627,047 (GRCm39) I92S probably benign Het
Or5ar1 C T 2: 85,671,526 (GRCm39) C203Y probably damaging Het
Pcdh9 T C 14: 94,124,616 (GRCm39) D518G probably damaging Het
Pde11a G T 2: 76,168,137 (GRCm39) T272K possibly damaging Het
Plekha2 T A 8: 25,549,851 (GRCm39) Q162L probably null Het
Prkag2 T A 5: 25,083,732 (GRCm39) I84F probably damaging Het
Prm2 G T 16: 10,609,613 (GRCm39) probably benign Het
Prpf40a A T 2: 53,032,035 (GRCm39) C800S probably damaging Het
Prr5l A T 2: 101,559,793 (GRCm39) C158S probably benign Het
Prrt3 C A 6: 113,475,198 (GRCm39) C8F possibly damaging Het
Psg25 T C 7: 18,263,728 (GRCm39) T32A probably benign Het
Ruvbl1 T C 6: 88,462,887 (GRCm39) V337A probably benign Het
Sall1 T A 8: 89,756,969 (GRCm39) Q1045L probably damaging Het
Sec22c T C 9: 121,524,708 (GRCm39) Y25C probably damaging Het
Serpina3i A T 12: 104,234,036 (GRCm39) T335S possibly damaging Het
Setd1b TCCACCACCACCACCACCACCACCA TCCACCACCACCACCACCACCA 5: 123,290,137 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,428,529 (GRCm39) I279N probably damaging Het
Slc15a1 G A 14: 121,727,319 (GRCm39) T83I probably damaging Het
Slc22a3 A G 17: 12,678,658 (GRCm39) F222S probably benign Het
Sorcs3 A T 19: 48,682,353 (GRCm39) T463S probably benign Het
Spsb4 C A 9: 96,877,931 (GRCm39) A131S probably benign Het
Sting1 T A 18: 35,871,743 (GRCm39) I170F probably damaging Het
Syne2 A G 12: 76,014,484 (GRCm39) E3225G probably damaging Het
Tchp G A 5: 114,857,634 (GRCm39) probably null Het
Tekt4 T A 17: 25,690,749 (GRCm39) D18E probably benign Het
Timm50 A G 7: 28,010,443 (GRCm39) V37A probably benign Het
Tlx2 A C 6: 83,045,741 (GRCm39) *285G probably null Het
Tshz1 C A 18: 84,031,499 (GRCm39) D970Y probably damaging Het
Ttn A T 2: 76,700,805 (GRCm39) V50E probably damaging Het
Txndc17 T A 11: 72,100,274 (GRCm39) S113T probably benign Het
Tyk2 T C 9: 21,019,305 (GRCm39) Y1039C probably damaging Het
Ubqln3 A G 7: 103,791,698 (GRCm39) S131P probably benign Het
Uncx A T 5: 139,529,837 (GRCm39) H30L possibly damaging Het
Usp25 T A 16: 76,912,303 (GRCm39) D1007E probably damaging Het
Usp47 T C 7: 111,701,038 (GRCm39) V1083A probably damaging Het
Wdr24 T A 17: 26,047,479 (GRCm39) H765Q probably damaging Het
Wrnip1 A G 13: 32,986,330 (GRCm39) D37G probably damaging Het
Xpo6 T C 7: 125,712,924 (GRCm39) T686A possibly damaging Het
Zfp941 G A 7: 140,392,124 (GRCm39) R412C probably damaging Het
Znrf2 T A 6: 54,855,425 (GRCm39) C71* probably null Het
Other mutations in Ckap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Ckap5 APN 2 91,436,601 (GRCm39) missense probably damaging 1.00
IGL00566:Ckap5 APN 2 91,398,972 (GRCm39) splice site probably benign
IGL00585:Ckap5 APN 2 91,450,170 (GRCm39) missense probably damaging 1.00
IGL00910:Ckap5 APN 2 91,406,395 (GRCm39) missense probably benign 0.32
IGL01309:Ckap5 APN 2 91,400,529 (GRCm39) missense probably damaging 0.99
IGL01411:Ckap5 APN 2 91,431,356 (GRCm39) missense probably benign 0.26
IGL01654:Ckap5 APN 2 91,407,954 (GRCm39) missense probably benign 0.26
IGL01684:Ckap5 APN 2 91,385,699 (GRCm39) missense probably benign 0.06
IGL02031:Ckap5 APN 2 91,443,117 (GRCm39) missense possibly damaging 0.85
IGL02057:Ckap5 APN 2 91,431,052 (GRCm39) missense possibly damaging 0.91
IGL02101:Ckap5 APN 2 91,402,885 (GRCm39) splice site probably benign
IGL02250:Ckap5 APN 2 91,379,246 (GRCm39) missense probably damaging 1.00
IGL02556:Ckap5 APN 2 91,425,186 (GRCm39) splice site probably benign
IGL02620:Ckap5 APN 2 91,436,714 (GRCm39) missense probably benign 0.01
IGL02627:Ckap5 APN 2 91,406,366 (GRCm39) missense probably damaging 1.00
IGL02693:Ckap5 APN 2 91,400,556 (GRCm39) missense probably damaging 1.00
IGL02808:Ckap5 APN 2 91,426,859 (GRCm39) missense probably damaging 1.00
IGL03086:Ckap5 APN 2 91,400,621 (GRCm39) splice site probably benign
Elephantine UTSW 2 91,406,614 (GRCm39) missense probably damaging 1.00
hardiness UTSW 2 91,445,445 (GRCm39) missense possibly damaging 0.68
total UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
K7371:Ckap5 UTSW 2 91,425,868 (GRCm39) splice site probably benign
R0106:Ckap5 UTSW 2 91,446,185 (GRCm39) missense probably damaging 1.00
R0106:Ckap5 UTSW 2 91,408,550 (GRCm39) missense possibly damaging 0.90
R0114:Ckap5 UTSW 2 91,450,457 (GRCm39) missense possibly damaging 0.86
R0464:Ckap5 UTSW 2 91,409,858 (GRCm39) missense probably benign 0.00
R0633:Ckap5 UTSW 2 91,381,088 (GRCm39) missense probably damaging 0.96
R0723:Ckap5 UTSW 2 91,385,676 (GRCm39) missense probably damaging 0.99
R1037:Ckap5 UTSW 2 91,380,974 (GRCm39) missense probably benign 0.00
R1139:Ckap5 UTSW 2 91,411,488 (GRCm39) missense probably benign 0.11
R1161:Ckap5 UTSW 2 91,429,720 (GRCm39) missense probably null 1.00
R1183:Ckap5 UTSW 2 91,416,611 (GRCm39) missense probably benign 0.01
R1660:Ckap5 UTSW 2 91,393,303 (GRCm39) missense possibly damaging 0.92
R1850:Ckap5 UTSW 2 91,426,058 (GRCm39) missense probably damaging 1.00
R1951:Ckap5 UTSW 2 91,386,837 (GRCm39) splice site probably benign
R1968:Ckap5 UTSW 2 91,416,688 (GRCm39) missense probably benign 0.10
R2004:Ckap5 UTSW 2 91,437,891 (GRCm39) missense possibly damaging 0.91
R2143:Ckap5 UTSW 2 91,396,090 (GRCm39) missense probably benign 0.00
R2391:Ckap5 UTSW 2 91,416,214 (GRCm39) missense possibly damaging 0.66
R2435:Ckap5 UTSW 2 91,411,490 (GRCm39) missense probably benign 0.01
R2438:Ckap5 UTSW 2 91,425,753 (GRCm39) missense possibly damaging 0.95
R2680:Ckap5 UTSW 2 91,419,043 (GRCm39) missense probably benign
R2698:Ckap5 UTSW 2 91,408,426 (GRCm39) missense probably damaging 1.00
R3420:Ckap5 UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
R3422:Ckap5 UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
R3696:Ckap5 UTSW 2 91,450,511 (GRCm39) missense probably benign 0.15
R3698:Ckap5 UTSW 2 91,450,511 (GRCm39) missense probably benign 0.15
R3877:Ckap5 UTSW 2 91,445,495 (GRCm39) missense possibly damaging 0.69
R4453:Ckap5 UTSW 2 91,379,190 (GRCm39) missense probably damaging 1.00
R4605:Ckap5 UTSW 2 91,406,559 (GRCm39) missense probably damaging 1.00
R4849:Ckap5 UTSW 2 91,445,616 (GRCm39) missense probably damaging 1.00
R5267:Ckap5 UTSW 2 91,422,097 (GRCm39) missense probably null 1.00
R5367:Ckap5 UTSW 2 91,445,486 (GRCm39) missense possibly damaging 0.69
R5481:Ckap5 UTSW 2 91,402,792 (GRCm39) missense possibly damaging 0.62
R5546:Ckap5 UTSW 2 91,425,161 (GRCm39) missense probably damaging 1.00
R5704:Ckap5 UTSW 2 91,406,548 (GRCm39) missense probably damaging 1.00
R5786:Ckap5 UTSW 2 91,446,641 (GRCm39) splice site probably null
R5793:Ckap5 UTSW 2 91,450,180 (GRCm39) missense possibly damaging 0.74
R5824:Ckap5 UTSW 2 91,389,481 (GRCm39) missense probably benign 0.34
R5841:Ckap5 UTSW 2 91,431,027 (GRCm39) missense probably benign 0.05
R5875:Ckap5 UTSW 2 91,391,206 (GRCm39) missense probably benign
R5935:Ckap5 UTSW 2 91,445,445 (GRCm39) missense possibly damaging 0.68
R6008:Ckap5 UTSW 2 91,393,334 (GRCm39) missense probably damaging 0.99
R6174:Ckap5 UTSW 2 91,398,564 (GRCm39) missense probably benign 0.00
R6343:Ckap5 UTSW 2 91,426,819 (GRCm39) missense possibly damaging 0.95
R6624:Ckap5 UTSW 2 91,407,996 (GRCm39) missense probably benign 0.01
R6786:Ckap5 UTSW 2 91,387,920 (GRCm39) missense probably benign 0.01
R6793:Ckap5 UTSW 2 91,399,054 (GRCm39) missense probably damaging 1.00
R6841:Ckap5 UTSW 2 91,400,597 (GRCm39) missense probably damaging 0.99
R6972:Ckap5 UTSW 2 91,436,658 (GRCm39) missense probably damaging 0.98
R7044:Ckap5 UTSW 2 91,407,946 (GRCm39) missense probably benign
R7111:Ckap5 UTSW 2 91,437,917 (GRCm39) missense probably damaging 1.00
R7790:Ckap5 UTSW 2 91,389,455 (GRCm39) missense probably benign
R7809:Ckap5 UTSW 2 91,436,702 (GRCm39) missense probably benign 0.28
R7921:Ckap5 UTSW 2 91,379,285 (GRCm39) missense probably damaging 0.96
R8125:Ckap5 UTSW 2 91,406,614 (GRCm39) missense probably damaging 1.00
R8331:Ckap5 UTSW 2 91,406,545 (GRCm39) missense probably damaging 1.00
R8342:Ckap5 UTSW 2 91,436,707 (GRCm39) missense possibly damaging 0.67
R8511:Ckap5 UTSW 2 91,445,492 (GRCm39) missense possibly damaging 0.95
R8708:Ckap5 UTSW 2 91,425,823 (GRCm39) missense probably benign 0.03
R8946:Ckap5 UTSW 2 91,409,861 (GRCm39) missense probably benign 0.44
R8982:Ckap5 UTSW 2 91,437,923 (GRCm39) missense possibly damaging 0.68
R9113:Ckap5 UTSW 2 91,426,144 (GRCm39) missense probably damaging 1.00
R9161:Ckap5 UTSW 2 91,445,653 (GRCm39) missense probably benign
R9238:Ckap5 UTSW 2 91,399,027 (GRCm39) missense probably null 0.10
R9339:Ckap5 UTSW 2 91,396,100 (GRCm39) missense probably benign
R9571:Ckap5 UTSW 2 91,387,953 (GRCm39) missense probably damaging 1.00
R9718:Ckap5 UTSW 2 91,379,177 (GRCm39) missense probably benign 0.10
X0010:Ckap5 UTSW 2 91,426,854 (GRCm39) missense possibly damaging 0.61
Z1177:Ckap5 UTSW 2 91,416,143 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCAGGTAGGTTTTATCCTGAGA -3'
(R):5'- CCCTCAAAGCCCTGACATTT -3'

Sequencing Primer
(F):5'- ATAGTATAGGCTGGCCTTGAACCC -3'
(R):5'- CCTCAAAGCCCTGACATTTATAAATC -3'
Posted On 2015-09-25