Incidental Mutation 'R9339:Ckap5'
ID 707345
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91357107-91451009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91396100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 534 (D534E)
Ref Sequence ENSEMBL: ENSMUSP00000097303 (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: D534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: D534E

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: D534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: D534E

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: D534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: D534E

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: D534E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: D534E

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,521 (GRCm39) E304G unknown Het
4933436I01Rik T A X: 66,964,689 (GRCm39) K57* probably null Het
Aar2 T C 2: 156,392,893 (GRCm39) V94A probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam25 T C 8: 41,206,911 (GRCm39) V59A probably damaging Het
Ampd2 T C 3: 107,987,616 (GRCm39) D103G probably damaging Het
Ankrd12 A G 17: 66,291,408 (GRCm39) S1342P probably benign Het
Atp13a2 A G 4: 140,730,571 (GRCm39) T739A probably benign Het
Catsperg1 T A 7: 28,894,885 (GRCm39) N571Y probably benign Het
Cela3b A G 4: 137,152,355 (GRCm39) I74T probably damaging Het
Cfhr1 A G 1: 139,485,293 (GRCm39) L51P probably benign Het
Cfhr4 T A 1: 139,682,044 (GRCm39) Y184F probably benign Het
Cstf3 C T 2: 104,493,778 (GRCm39) P594L probably damaging Het
Ctdp1 A G 18: 80,492,689 (GRCm39) L602P probably damaging Het
Defa24 A G 8: 22,224,559 (GRCm39) T3A probably damaging Het
Dmgdh A G 13: 93,847,941 (GRCm39) H546R probably benign Het
Dscam A G 16: 96,517,263 (GRCm39) V882A possibly damaging Het
Dydc2 A G 14: 40,771,260 (GRCm39) *140Q probably null Het
Ehd4 T C 2: 119,921,708 (GRCm39) D516G possibly damaging Het
En1 T C 1: 120,534,893 (GRCm39) V394A unknown Het
Erich3 T G 3: 154,468,872 (GRCm39) L1108R unknown Het
Erp27 A G 6: 136,896,945 (GRCm39) S86P probably benign Het
Esr1 A C 10: 4,696,798 (GRCm39) S216R probably damaging Het
Fbxo40 A T 16: 36,789,286 (GRCm39) I608N probably damaging Het
Fcna G A 2: 25,517,782 (GRCm39) Q23* probably null Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gata6 A G 18: 11,054,520 (GRCm39) T150A probably damaging Het
Gbp2b T A 3: 142,317,178 (GRCm39) H511Q probably benign Het
Gpr171 C A 3: 59,005,362 (GRCm39) V138L probably damaging Het
Grhl2 G A 15: 37,344,904 (GRCm39) V509I probably benign Het
Gzmd G A 14: 56,367,869 (GRCm39) P135S probably damaging Het
Hhatl C A 9: 121,618,862 (GRCm39) C90F probably benign Het
Hspg2 A G 4: 137,278,480 (GRCm39) K3050R probably benign Het
Kcnh3 T C 15: 99,130,786 (GRCm39) Y468H probably damaging Het
Lhfpl6 A G 3: 52,950,891 (GRCm39) H55R probably benign Het
Lpgat1 T C 1: 191,451,488 (GRCm39) V38A probably benign Het
Lrrc49 A G 9: 60,510,031 (GRCm39) I479T probably benign Het
Map1b A T 13: 99,567,570 (GRCm39) I1717N unknown Het
Map3k20 G T 2: 72,272,216 (GRCm39) R781S possibly damaging Het
Mcm3ap A G 10: 76,306,358 (GRCm39) E157G probably benign Het
Mylk2 A G 2: 152,755,370 (GRCm39) E178G probably damaging Het
Naaladl2 A G 3: 24,057,146 (GRCm39) L605P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nt5el C T 13: 105,246,114 (GRCm39) T225I probably benign Het
Or10h28 T C 17: 33,488,631 (GRCm39) V311A probably benign Het
Or4a76 T C 2: 89,460,555 (GRCm39) E229G probably damaging Het
Padi3 A T 4: 140,522,928 (GRCm39) I348N probably benign Het
Pcdh18 T C 3: 49,709,335 (GRCm39) D660G probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Pkhd1l1 T C 15: 44,452,949 (GRCm39) V3958A probably damaging Het
Ppargc1b C A 18: 61,456,267 (GRCm39) C80F probably damaging Het
Rbm28 T C 6: 29,128,674 (GRCm39) E590G probably benign Het
Rbm47 T C 5: 66,183,826 (GRCm39) E259G possibly damaging Het
Rint1 A G 5: 23,993,355 (GRCm39) *37W probably null Het
Sacs G A 14: 61,443,309 (GRCm39) R1785Q probably benign Het
Samm50 T C 15: 84,095,276 (GRCm39) C421R probably benign Het
Scnn1b G T 7: 121,511,254 (GRCm39) A314S probably damaging Het
Sf3b3 C A 8: 111,542,854 (GRCm39) V868L probably benign Het
Sirt5 G T 13: 43,530,327 (GRCm39) V136L probably benign Het
Slc1a7 T C 4: 107,850,237 (GRCm39) V116A probably damaging Het
Slc24a4 G A 12: 102,230,638 (GRCm39) V510M probably damaging Het
Slc35f5 T C 1: 125,517,628 (GRCm39) I116T probably benign Het
Spata4 T C 8: 55,053,899 (GRCm39) S22P probably benign Het
Sqstm1 A G 11: 50,091,725 (GRCm39) V324A probably benign Het
Stmnd1 G A 13: 46,453,079 (GRCm39) A252T probably benign Het
Tbl1xr1 C A 3: 22,258,150 (GRCm39) N470K possibly damaging Het
Thap12 T C 7: 98,364,323 (GRCm39) S164P possibly damaging Het
Thsd1 A G 8: 22,733,898 (GRCm39) Y315C probably damaging Het
Tnni2 C A 7: 141,997,672 (GRCm39) D102E probably damaging Het
Trav7n-4 A C 14: 53,328,849 (GRCm39) N16T probably benign Het
Trpm7 T C 2: 126,665,906 (GRCm39) K900R probably benign Het
Tspoap1 T A 11: 87,668,839 (GRCm39) C1371S probably benign Het
Tssk5 A G 15: 76,257,156 (GRCm39) M242T possibly damaging Het
Ubn2 A G 6: 38,460,079 (GRCm39) I607V probably benign Het
Ubr2 A T 17: 47,284,865 (GRCm39) V551E probably benign Het
Vipr2 A G 12: 116,058,344 (GRCm39) N87S probably damaging Het
Vmn2r18 T A 5: 151,485,132 (GRCm39) K787N probably damaging Het
Wwc2 A T 8: 48,353,859 (GRCm39) W92R probably damaging Het
Zfp141 A G 7: 42,125,639 (GRCm39) Y278H probably damaging Het
Zfp827 T C 8: 79,844,887 (GRCm39) S686P 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
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
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'- TGCACTGCCAAGAAAATTACAG -3'
(R):5'- CATGTAGCCAAGGAATCCATTTCTC -3'

Sequencing Primer
(F):5'- ATGGTTGTGGCTTAATGACTTCTAAG -3'
(R):5'- TGTGGTAGCACACATCAGC -3'
Posted On 2022-04-18