Incidental Mutation 'R2680:Ckap5'
ID 250858
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission 040433-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2680 (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 G at 91419043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1118 (I1118V)
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: I1118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: I1118V

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: I1118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: I1118V

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: I1118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: I1118V

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: I1118V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: I1118V

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: 97.3%
  • 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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC024139 A G 15: 76,005,939 (GRCm39) W421R probably damaging Het
Car11 T C 7: 45,351,909 (GRCm39) S113P probably benign Het
Ccdc146 C T 5: 21,510,267 (GRCm39) A582T possibly damaging Het
Cct8l1 A G 5: 25,722,133 (GRCm39) T283A probably benign Het
Copa C T 1: 171,948,971 (GRCm39) Q1199* probably null Het
Cpd A T 11: 76,681,825 (GRCm39) N1140K probably benign Het
Cspp1 A G 1: 10,174,530 (GRCm39) D661G probably damaging Het
Dab2 A G 15: 6,466,474 (GRCm39) Q729R possibly damaging Het
Dnah9 T C 11: 65,924,751 (GRCm39) I2168V probably benign Het
Dync1h1 G A 12: 110,609,681 (GRCm39) R2821H probably damaging Het
Ercc5 T C 1: 44,196,133 (GRCm39) V42A probably benign Het
Evc A G 5: 37,467,581 (GRCm39) V566A probably benign Het
Fcrl2 T C 3: 87,164,656 (GRCm39) Y290C probably damaging Het
Frmd4a A G 2: 4,539,364 (GRCm39) R171G probably damaging Het
Galnt17 G A 5: 131,140,661 (GRCm39) P152L probably damaging Het
Gfi1 A G 5: 107,869,297 (GRCm39) L245P probably damaging Het
Heatr4 T C 12: 84,027,237 (GRCm39) K7E possibly damaging Het
Ifit3b A G 19: 34,589,705 (GRCm39) N294D probably benign Het
Ift74 A G 4: 94,541,265 (GRCm39) Y230C probably damaging Het
Igsf10 C T 3: 59,232,875 (GRCm39) V1953I probably benign Het
Ikzf5 T C 7: 130,998,490 (GRCm39) D14G probably damaging Het
Il12rb2 T A 6: 67,331,789 (GRCm39) T259S possibly damaging Het
Itgae T A 11: 73,005,752 (GRCm39) D305E probably damaging Het
Kif23 A C 9: 61,844,758 (GRCm39) D90E probably benign Het
Kprp A G 3: 92,731,770 (GRCm39) F427L unknown Het
Lmnb1 T A 18: 56,864,177 (GRCm39) Y261N probably damaging Het
Megf8 T C 7: 25,016,981 (GRCm39) V17A probably benign Het
Mfap4 T C 11: 61,378,057 (GRCm39) Y190H probably benign Het
Mlh1 T C 9: 111,065,085 (GRCm39) probably null Het
Mocos C A 18: 24,809,686 (GRCm39) Q430K probably damaging Het
Ndst2 A G 14: 20,774,822 (GRCm39) F794L probably damaging Het
Nedd4l A T 18: 65,296,201 (GRCm39) I197F possibly damaging Het
Nefm A G 14: 68,361,235 (GRCm39) L343P probably damaging Het
Nfatc4 A G 14: 56,070,291 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,148,655 (GRCm39) probably null Het
Nlrp4f A T 13: 65,342,157 (GRCm39) L496* probably null Het
Nom1 T C 5: 29,648,415 (GRCm39) F654S probably damaging Het
Or4k2 A T 14: 50,424,304 (GRCm39) Y123* probably null Het
Pcdhac2 A G 18: 37,278,639 (GRCm39) K540E possibly damaging Het
Pde4dip T C 3: 97,608,933 (GRCm39) N1974S possibly damaging Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Pik3ca C T 3: 32,490,697 (GRCm39) R115* probably null Het
Pik3ca T C 3: 32,498,034 (GRCm39) I492T probably benign Het
Ppp1ca G A 19: 4,244,594 (GRCm39) E218K possibly damaging Het
Prex1 G T 2: 166,443,692 (GRCm39) D492E possibly damaging Het
Scaf8 T C 17: 3,247,866 (GRCm39) V1063A possibly damaging Het
Scn3a G T 2: 65,366,880 (GRCm39) N47K probably benign Het
Sec61a2 G T 2: 5,878,556 (GRCm39) N348K probably benign Het
Sh3rf2 A G 18: 42,234,715 (GRCm39) E166G probably damaging Het
Slc19a2 C A 1: 164,076,982 (GRCm39) T54K probably damaging Het
Slc8a3 T A 12: 81,249,113 (GRCm39) I765F probably damaging Het
Snap91 A T 9: 86,761,603 (GRCm39) M1K probably null Het
Spef1l T C 7: 139,558,474 (GRCm39) D41G probably damaging Het
Strc T C 2: 121,195,592 (GRCm39) H1619R probably damaging Het
Tbl1xr1 C T 3: 22,245,615 (GRCm39) T207M possibly damaging Het
Tchp T C 5: 114,847,580 (GRCm39) probably null Het
Tln1 A T 4: 43,539,668 (GRCm39) F1581Y probably damaging Het
Tnxb T C 17: 34,922,594 (GRCm39) V2469A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r225 T A 17: 20,723,055 (GRCm39) F165L probably benign Het
Vmn2r13 T C 5: 109,322,178 (GRCm39) D173G possibly damaging Het
Vmn2r6 A C 3: 64,445,707 (GRCm39) S673A possibly damaging Het
Vta1 G A 10: 14,581,171 (GRCm39) probably benign Het
Wwc1 T C 11: 35,766,756 (GRCm39) T500A probably benign Het
Zfp784 T A 7: 5,039,116 (GRCm39) Q147H possibly 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
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
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'- ATGTGCCACTCTACCCAGAC -3'
(R):5'- ACAAGTTTTGTGTCTCAGCAC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCCACAGAAAGCTGAATGAATAC -3'
Posted On 2014-12-04