Incidental Mutation 'R6174:Ckap5'
ID 488175
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6174 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91357107-91451009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91398564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 578 (E578G)
Ref Sequence ENSEMBL: ENSMUSP00000106970 (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: E578G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: E578G

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: E578G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: E578G

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: E578G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: E578G

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: E578G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: E578G

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 noncoding transcript
Transcript: ENSMUST00000133633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139433
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,919,517 (GRCm39) D725E probably damaging Het
Bco1 T A 8: 117,840,273 (GRCm39) Y264N probably damaging Het
Cd109 G A 9: 78,572,828 (GRCm39) probably null Het
Cdc45 T C 16: 18,613,454 (GRCm39) probably null Het
Cracr2b T A 7: 141,044,749 (GRCm39) L193Q probably damaging Het
Dmxl2 G A 9: 54,301,011 (GRCm39) L2367F probably damaging Het
Dop1b T G 16: 93,563,110 (GRCm39) D871E probably damaging Het
Emc1 T C 4: 139,093,842 (GRCm39) Y651H probably benign Het
Enox1 T C 14: 77,745,627 (GRCm39) S41P possibly damaging Het
Fcgbpl1 A G 7: 27,839,384 (GRCm39) Y399C probably damaging Het
Foxa1 A G 12: 57,589,686 (GRCm39) L178P probably damaging Het
Gm57859 C A 11: 113,579,801 (GRCm39) H399N possibly damaging Het
Grm7 T A 6: 111,223,258 (GRCm39) Y433N probably benign Het
Gsta5 T A 9: 78,211,737 (GRCm39) Y166* probably null Het
Gtf3c2 G A 5: 31,315,555 (GRCm39) R813C probably damaging Het
H4c9 T A 13: 22,225,247 (GRCm39) T83S probably benign Het
Hacd3 T C 9: 64,912,909 (GRCm39) E117G probably damaging Het
Hmcn1 G A 1: 150,522,535 (GRCm39) T3455M probably benign Het
Itga6 A G 2: 71,664,053 (GRCm39) I61V possibly damaging Het
Jaml T C 9: 45,000,071 (GRCm39) L81P probably damaging Het
Loxhd1 T C 18: 77,499,874 (GRCm39) F782S probably damaging Het
Lrp1b T C 2: 41,339,275 (GRCm39) H742R probably benign Het
Macrod2 G T 2: 140,242,895 (GRCm39) M1I probably null Het
Mcf2l G A 8: 13,063,849 (GRCm39) W1020* probably null Het
Msgn1 A G 12: 11,258,924 (GRCm39) L9P probably damaging Het
Ngdn C A 14: 55,259,556 (GRCm39) S202R probably benign Het
Notch1 C T 2: 26,375,454 (GRCm39) G50R possibly damaging Het
Or14c46 A T 7: 85,918,009 (GRCm39) D329E probably benign Het
Or1a1b A T 11: 74,097,466 (GRCm39) I192N probably damaging Het
Or2d2b A T 7: 106,705,714 (GRCm39) M118K probably damaging Het
Or5d14 A T 2: 87,880,646 (GRCm39) C107* probably null Het
Osbpl10 A G 9: 114,938,555 (GRCm39) S211G probably benign Het
Pabpc6 G A 17: 9,887,084 (GRCm39) A489V probably benign Het
Pcdhb13 A T 18: 37,576,474 (GRCm39) D284V possibly damaging Het
Pde6c T C 19: 38,128,677 (GRCm39) S214P possibly damaging Het
Pofut1 C T 2: 153,101,536 (GRCm39) H192Y probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Prc1 G A 7: 79,954,544 (GRCm39) S165N probably benign Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Ptpru T C 4: 131,513,065 (GRCm39) I881V probably benign Het
Radil A G 5: 142,472,870 (GRCm39) S847P probably benign Het
Rimklb A G 6: 122,433,371 (GRCm39) S317P probably damaging Het
Sdhc A T 1: 170,966,271 (GRCm39) L78* probably null Het
Skint6 T A 4: 112,696,510 (GRCm39) I1042F possibly damaging Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc29a1 A T 17: 45,900,854 (GRCm39) H71Q probably damaging Het
Slfn14 A T 11: 83,167,429 (GRCm39) D695E probably damaging Het
Spg11 A T 2: 121,917,286 (GRCm39) probably null Het
Srgap2 A G 1: 131,217,354 (GRCm39) V986A probably benign Het
Stab1 A T 14: 30,884,476 (GRCm39) C172* probably null Het
Tigd4 A G 3: 84,502,574 (GRCm39) H497R probably benign Het
Ubn2 G A 6: 38,438,471 (GRCm39) G60D probably damaging Het
Uckl1 C T 2: 181,214,866 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,793,236 (GRCm39) K854N probably benign Het
Vps13d G A 4: 144,701,763 (GRCm39) Q3193* probably null Het
Wdr26 G A 1: 181,019,433 (GRCm39) L315F probably damaging Het
Zc3h8 C A 2: 128,785,775 (GRCm39) E24* probably null Het
Zfp39 A G 11: 58,782,213 (GRCm39) V183A probably benign Het
Zfp608 C A 18: 55,121,616 (GRCm39) probably benign 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
R4604:Ckap5 UTSW 2 91,408,476 (GRCm39) missense probably benign 0.00
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
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'- CCTGCAAATTAGCCAAATATTCCATGG -3'
(R):5'- AGCATTTGAGTCTGCAGTAGC -3'

Sequencing Primer
(F):5'- TGTGGTAATTCTGTGGACAATAAAC -3'
(R):5'- ACTAACTCTGTAGACCAGGCTGG -3'
Posted On 2017-10-10