Incidental Mutation 'R5481:Ckap5'
ID 434303
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission 043042-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5481 (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 91402792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 690 (I690F)
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: I690F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: I690F

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 possibly damaging
Transcript: ENSMUST00000099716
AA Change: I690F

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: I690F

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: I690F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: I690F

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 possibly damaging
Transcript: ENSMUST00000111338
AA Change: I690F

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: I690F

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: 99.1%
  • 3x: 97.6%
  • 10x: 95.1%
  • 20x: 90.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,759 (GRCm39) S187P probably damaging Het
Aass C A 6: 23,113,475 (GRCm39) V282L probably benign Het
Adh6a G T 3: 138,031,719 (GRCm39) V204F probably damaging Het
Adrm1b A G 3: 92,336,658 (GRCm39) S15P possibly damaging Het
Aspm A G 1: 139,384,799 (GRCm39) K148E possibly damaging Het
Atp12a A T 14: 56,610,846 (GRCm39) D330V possibly damaging Het
Barhl1 A G 2: 28,805,352 (GRCm39) Y114H probably damaging Het
BC106179 T A 16: 23,042,918 (GRCm39) probably benign Het
Cabin1 A G 10: 75,570,900 (GRCm39) L792P probably benign Het
Calcoco2 A G 11: 95,998,369 (GRCm39) V18A probably damaging Het
Chpf2 A T 5: 24,794,340 (GRCm39) H170L probably damaging Het
Chrna1 T A 2: 73,397,270 (GRCm39) I340F possibly damaging Het
Col10a1 A G 10: 34,271,660 (GRCm39) H544R probably benign Het
Cyp2b19 A C 7: 26,466,246 (GRCm39) T350P probably damaging Het
Dgkq A G 5: 108,796,676 (GRCm39) probably null Het
Dnah1 A G 14: 31,030,828 (GRCm39) V443A possibly damaging Het
Erbb3 T C 10: 128,408,349 (GRCm39) D855G probably damaging Het
Fam3c T C 6: 22,321,357 (GRCm39) D138G probably benign Het
Fen1 A G 19: 10,178,022 (GRCm39) C141R probably damaging Het
Flnc G A 6: 29,441,216 (GRCm39) G390D probably damaging Het
Fnip1 C A 11: 54,393,470 (GRCm39) D635E probably benign Het
Fry A T 5: 150,183,784 (GRCm39) L17F probably benign Het
Fsip2 T C 2: 82,810,230 (GRCm39) I2183T probably benign Het
Gfpt1 T A 6: 87,027,951 (GRCm39) I19N probably damaging Het
Hus1b T C 13: 31,130,942 (GRCm39) D239G probably benign Het
Kif1a T C 1: 92,987,966 (GRCm39) K546R probably benign Het
Kmt2d A G 15: 98,759,886 (GRCm39) V1124A unknown Het
Krtap16-1 A G 11: 99,876,153 (GRCm39) I417T probably damaging Het
Manba A T 3: 135,230,317 (GRCm39) N297Y possibly damaging Het
Mblac1 A G 5: 138,193,078 (GRCm39) D140G probably damaging Het
Mlh1 T C 9: 111,058,905 (GRCm39) probably null Het
Morc1 T A 16: 48,381,848 (GRCm39) probably null Het
Morc3 C A 16: 93,659,543 (GRCm39) P449Q probably damaging Het
Mtr T C 13: 12,203,041 (GRCm39) probably null Het
Mylk T A 16: 34,741,974 (GRCm39) C829S probably benign Het
Myo1d A G 11: 80,553,921 (GRCm39) I520T possibly damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nos1 A T 5: 118,005,819 (GRCm39) I180F probably benign Het
Ntsr1 C T 2: 180,183,313 (GRCm39) T341M possibly damaging Het
Or8b51 A T 9: 38,568,916 (GRCm39) F257L probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Peli2 C A 14: 48,490,090 (GRCm39) N136K probably damaging Het
Pigt C A 2: 164,348,342 (GRCm39) P429H probably damaging Het
Pik3r2 T C 8: 71,222,408 (GRCm39) I515V probably benign Het
Pkhd1l1 A G 15: 44,422,042 (GRCm39) Y3104C probably damaging Het
Ppp1r16a A C 15: 76,575,221 (GRCm39) E43A probably damaging Het
Ptpn18 T C 1: 34,510,744 (GRCm39) L260P possibly damaging Het
Scaf11 A T 15: 96,318,498 (GRCm39) S355R probably damaging Het
Sema4a A T 3: 88,360,347 (GRCm39) Y77* probably null Het
Serpinb9b T C 13: 33,222,076 (GRCm39) V230A possibly damaging Het
Sfswap T A 5: 129,591,882 (GRCm39) S300T probably damaging Het
Slc22a30 T C 19: 8,314,201 (GRCm39) N495S probably benign Het
Srcap G A 7: 127,131,369 (GRCm39) G836D probably damaging Het
Stard4 A C 18: 33,338,298 (GRCm39) C137W probably benign Het
Stat6 A G 10: 127,483,695 (GRCm39) probably null Het
Steap3 T C 1: 120,169,454 (GRCm39) D243G probably benign Het
Taf1c A G 8: 120,325,979 (GRCm39) S628P probably damaging Het
Unkl C T 17: 25,420,146 (GRCm39) Q13* probably null Het
Usp38 A G 8: 81,719,952 (GRCm39) S426P possibly damaging Het
Vmn2r8 T C 5: 108,949,636 (GRCm39) T404A probably benign Het
Washc1 T C 17: 66,425,860 (GRCm39) V425A probably benign Het
Zfyve9 A G 4: 108,501,546 (GRCm39) I590T probably damaging 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
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'- TACTGCATCTTAAGGTTCCGTG -3'
(R):5'- AGGTCAGCCAGGGCATATACATAC -3'

Sequencing Primer
(F):5'- CATCTTAAGGTTCCGTGTAAGTGAC -3'
(R):5'- GCCAGGGCATATACATACACAAAG -3'
Posted On 2016-10-06