Incidental Mutation 'R6841:Ckap5'
ID 538006
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission 044947-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6841 (G1)
Quality Score 201.009
Status Validated
Chromosome 2
Chromosomal Location 91357107-91451009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91400597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 650 (W650R)
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 damaging
Transcript: ENSMUST00000046769
AA Change: W650R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: W650R

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 damaging
Transcript: ENSMUST00000099716
AA Change: W650R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: W650R

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 possibly damaging
Transcript: ENSMUST00000111337
AA Change: W650R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: W650R

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 damaging
Transcript: ENSMUST00000111338
AA Change: W650R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: W650R

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 0.4269 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik G A 11: 6,150,439 (GRCm39) W137* probably null Het
Acads G A 5: 115,250,417 (GRCm39) T169I probably benign Het
Adgrg7 T A 16: 56,570,787 (GRCm39) N414Y probably damaging Het
Ankrd35 T A 3: 96,577,742 (GRCm39) S6T probably damaging Het
Armc3 A G 2: 19,206,630 (GRCm39) probably null Het
Atp9a C A 2: 168,496,140 (GRCm39) V555F possibly damaging Het
Bltp1 A G 3: 37,075,630 (GRCm39) Y3610C probably damaging Het
Cars2 C T 8: 11,566,198 (GRCm39) V443I probably benign Het
Cblc A G 7: 19,526,821 (GRCm39) L137P probably damaging Het
Ccdc198 T C 14: 49,481,270 (GRCm39) probably null Het
Cdk5r1 T A 11: 80,369,021 (GRCm39) C229* probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Cfap54 T C 10: 92,710,877 (GRCm39) Y2728C unknown Het
Cnot11 C T 1: 39,579,148 (GRCm39) Q12* probably null Het
Commd6 A T 14: 101,874,534 (GRCm39) D19E probably damaging Het
Crygc C T 1: 65,112,361 (GRCm39) G71D possibly damaging Het
Cstf3 A G 2: 104,486,076 (GRCm39) K439E probably benign Het
Cyp11b2 G T 15: 74,727,340 (GRCm39) H114N probably benign Het
Cyp2d40 T C 15: 82,645,687 (GRCm39) D106G probably benign Het
Dhx8 T A 11: 101,655,618 (GRCm39) V1117E probably damaging Het
Duoxa1 G T 2: 122,134,462 (GRCm39) L219I probably damaging Het
Dynap A T 18: 70,374,253 (GRCm39) I91N probably damaging Het
Elfn1 G T 5: 139,958,900 (GRCm39) G635W probably damaging Het
Fan1 A T 7: 64,014,377 (GRCm39) I618N probably damaging Het
Fras1 A G 5: 96,876,410 (GRCm39) D2381G probably damaging Het
Fxyd6 T A 9: 45,302,851 (GRCm39) probably null Het
Gpr137b A T 13: 13,538,094 (GRCm39) W286R probably damaging Het
Gpsm3 A T 17: 34,809,536 (GRCm39) probably null Het
Has1 C T 17: 18,064,122 (GRCm39) V506I probably benign Het
Hoxd10 T A 2: 74,522,616 (GRCm39) V98D probably benign Het
Htr2b T A 1: 86,027,615 (GRCm39) D297V probably benign Het
Hydin G C 8: 111,265,007 (GRCm39) R2730P probably benign Het
I830077J02Rik T C 3: 105,833,830 (GRCm39) N109D possibly damaging Het
Igf2r A T 17: 12,922,263 (GRCm39) F1284I probably damaging Het
Ildr2 C G 1: 166,098,144 (GRCm39) D167E probably damaging Het
Ipo9 T C 1: 135,314,046 (GRCm39) D949G probably benign Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Itpr1 A G 6: 108,365,153 (GRCm39) N27S probably damaging Het
Klra4 C A 6: 130,042,162 (GRCm39) R35L probably benign Het
Map3k2 T A 18: 32,359,682 (GRCm39) C512S probably benign Het
Mertk A G 2: 128,601,150 (GRCm39) probably null Het
Mgat2 T A 12: 69,232,407 (GRCm39) I327N probably damaging Het
Mogat1 T C 1: 78,499,496 (GRCm39) I59T probably damaging Het
Mrpl2 A T 17: 46,958,382 (GRCm39) M55L probably benign Het
Nxpe3 T C 16: 55,664,685 (GRCm39) M512V possibly damaging Het
Pcdh15 T C 10: 74,286,052 (GRCm39) L769P probably damaging Het
Pcmtd2 T G 2: 181,486,231 (GRCm39) V117G probably damaging Het
Pdia2 A T 17: 26,415,578 (GRCm39) probably null Het
Repin1 A T 6: 48,574,859 (GRCm39) Q593L possibly damaging Het
Rnf213 C T 11: 119,340,692 (GRCm39) T3517I probably benign Het
Rxfp2 A T 5: 149,942,210 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,968 (GRCm39) L138P probably damaging Het
Slc35a3 T A 3: 116,506,417 (GRCm39) Q5L probably null Het
Stab2 T A 10: 86,778,054 (GRCm39) N758I probably damaging Het
Sulf1 T A 1: 12,908,658 (GRCm39) I557N probably damaging Het
Tbc1d8 T C 1: 39,428,455 (GRCm39) I497V possibly damaging Het
Ticam2 A C 18: 46,693,998 (GRCm39) S30A probably benign Het
Timp3 T C 10: 86,181,638 (GRCm39) S170P possibly damaging Het
Top1mt C T 15: 75,547,973 (GRCm39) E38K probably benign Het
Tpp1 G A 7: 105,398,171 (GRCm39) L331F probably damaging Het
Trpm7 A T 2: 126,654,941 (GRCm39) D1332E probably benign Het
Ttc23 A G 7: 67,319,476 (GRCm39) E112G possibly damaging Het
Ttn T C 2: 76,715,296 (GRCm39) probably benign Het
Ttn T A 2: 76,726,934 (GRCm39) probably benign Het
Ubr3 T A 2: 69,850,969 (GRCm39) C1796S probably damaging Het
Ugt2b34 C T 5: 87,040,675 (GRCm39) V416I probably benign Het
Uqcrb A G 13: 67,048,827 (GRCm39) probably benign Het
Vps26b A G 9: 26,921,760 (GRCm39) L255P probably benign Het
Wdr59 A G 8: 112,223,512 (GRCm39) V154A 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
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
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'- CCATCTTGGCTTGGCTTAGC -3'
(R):5'- TAGCAAAACTGGGACTCACAAG -3'

Sequencing Primer
(F):5'- GGCTTAGCTTGACTTTAGGATCTACC -3'
(R):5'- CCGGAACTCAGTAAGATGGTCTC -3'
Posted On 2018-10-18