Incidental Mutation 'R1968:Ckap5'
ID 219168
Institutional Source Beutler Lab
Gene Symbol Ckap5
Ensembl Gene ENSMUSG00000040549
Gene Name cytoskeleton associated protein 5
Synonyms D730027C18Rik, 4930432B04Rik, 3110043H24Rik
MMRRC Submission 039981-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1968 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91357107-91451009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91416688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1098 (S1098P)
Ref Sequence ENSEMBL: ENSMUSP00000046263 (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: S1098P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: S1098P

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: S1098P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: S1098P

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: S1098P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: S1098P

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: S1098P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: S1098P

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,397,193 (GRCm39) Y180H possibly damaging Het
Abcc10 A T 17: 46,633,125 (GRCm39) L528Q probably damaging Het
Adam18 T A 8: 25,136,463 (GRCm39) T353S probably benign Het
Aldh1a3 A G 7: 66,061,248 (GRCm39) probably null Het
Aldh3b2 T A 19: 4,030,705 (GRCm39) M390K probably benign Het
Arhgap45 T C 10: 79,863,536 (GRCm39) I793T probably damaging Het
Arsb A G 13: 93,944,067 (GRCm39) M253V probably benign Het
Atcay T C 10: 81,048,312 (GRCm39) D258G possibly damaging Het
Atf1 G T 15: 100,152,395 (GRCm39) probably null Het
Atp1a4 C T 1: 172,067,731 (GRCm39) E511K probably benign Het
Atp8a1 A G 5: 67,825,000 (GRCm39) V777A probably benign Het
Baz1a T C 12: 54,947,122 (GRCm39) T1173A possibly damaging Het
Bdh2 A T 3: 134,991,370 (GRCm39) D15V probably benign Het
Cacna1e T C 1: 154,576,240 (GRCm39) Y69C probably damaging Het
Caskin2 A G 11: 115,694,440 (GRCm39) L387P probably benign Het
Cat T C 2: 103,315,334 (GRCm39) E17G probably benign Het
Ccdc15 T C 9: 37,259,091 (GRCm39) I54M probably benign Het
Ccn1 T C 3: 145,353,965 (GRCm39) Y275C probably damaging Het
Cdhr1 T G 14: 36,801,682 (GRCm39) I754L probably benign Het
Cep120 G A 18: 53,856,313 (GRCm39) T368I probably benign Het
Cep126 C A 9: 8,100,909 (GRCm39) D542Y probably damaging Het
Cep135 T C 5: 76,772,594 (GRCm39) S660P possibly damaging Het
Cfap70 A T 14: 20,470,879 (GRCm39) S455R possibly damaging Het
Chd8 A G 14: 52,458,450 (GRCm39) M886T probably damaging Het
Clec4e A T 6: 123,260,533 (GRCm39) I204N probably damaging Het
Cntnap5c G A 17: 58,666,291 (GRCm39) R1107H probably damaging Het
Cramp1 T C 17: 25,183,913 (GRCm39) D1234G probably damaging Het
Csf1r A T 18: 61,245,867 (GRCm39) I275L probably benign Het
Cyp27a1 A G 1: 74,776,435 (GRCm39) E457G probably benign Het
Cyp2d11 T C 15: 82,273,749 (GRCm39) T410A probably benign Het
Cyp2d22 G C 15: 82,257,373 (GRCm39) T264S probably benign Het
Daam2 G A 17: 49,790,088 (GRCm39) R390W probably damaging Het
Decr2 T C 17: 26,302,053 (GRCm39) S226G probably benign Het
Dennd6b T C 15: 89,074,544 (GRCm39) D91G possibly damaging Het
Dglucy T C 12: 100,825,903 (GRCm39) V515A possibly damaging Het
Dlg5 A T 14: 24,214,187 (GRCm39) L734* probably null Het
Dop1b A G 16: 93,579,307 (GRCm39) N1690D probably damaging Het
Exoc5 A G 14: 49,272,347 (GRCm39) Y356H probably benign Het
Fut7 T A 2: 25,315,738 (GRCm39) V332D probably benign Het
Gnas T C 2: 174,140,526 (GRCm39) S232P probably damaging Het
Gramd4 A G 15: 86,017,106 (GRCm39) E522G probably damaging Het
Gys1 A G 7: 45,092,970 (GRCm39) T297A probably damaging Het
Herc4 T C 10: 63,109,304 (GRCm39) S180P probably benign Het
Hivep3 C T 4: 119,953,435 (GRCm39) P584S possibly damaging Het
Irag2 T A 6: 145,115,499 (GRCm39) S310T probably damaging Het
Itpk1 G T 12: 102,641,729 (GRCm39) probably null Het
Jmjd1c A T 10: 67,061,219 (GRCm39) S1191C probably damaging Het
Lima1 T C 15: 99,717,565 (GRCm39) N147S probably benign Het
Map4k5 G A 12: 69,865,266 (GRCm39) T506I probably damaging Het
Mat1a A T 14: 40,832,991 (GRCm39) E58V probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Mon2 A G 10: 122,845,470 (GRCm39) Y1413H probably damaging Het
Mpp3 C A 11: 101,909,378 (GRCm39) probably benign Het
Mpp4 T A 1: 59,183,961 (GRCm39) I260F probably damaging Het
Myocd C A 11: 65,091,733 (GRCm39) G70C probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nckap5 T A 1: 125,942,367 (GRCm39) D209V probably damaging Het
Nlrp9a A G 7: 26,264,366 (GRCm39) K707R probably benign Het
Npr3 A G 15: 11,905,055 (GRCm39) L224S probably benign Het
Or5m9b T A 2: 85,905,549 (GRCm39) L155Q probably damaging Het
Or5w20 T A 2: 87,727,383 (GRCm39) V280E probably damaging Het
Or6c74 A G 10: 129,869,602 (GRCm39) S36G probably damaging Het
Otof C T 5: 30,545,998 (GRCm39) D467N probably damaging Het
Paxx T C 2: 25,350,640 (GRCm39) probably benign Het
Pcmt1 G A 10: 7,516,474 (GRCm39) R179* probably null Het
Phkb T A 8: 86,697,580 (GRCm39) V463D probably benign Het
Prkcq T C 2: 11,250,208 (GRCm39) V175A probably damaging Het
Rasl11b T G 5: 74,356,797 (GRCm39) I58S probably damaging Het
Rb1cc1 A T 1: 6,318,419 (GRCm39) probably null Het
Reck T A 4: 43,913,771 (GRCm39) probably null Het
Riox1 G T 12: 83,998,156 (GRCm39) D231Y probably damaging Het
Rlf T A 4: 121,005,617 (GRCm39) N1231I probably damaging Het
Rpn1 A G 6: 88,072,530 (GRCm39) D291G possibly damaging Het
Samsn1 C T 16: 75,742,461 (GRCm39) noncoding transcript Het
Scara5 T C 14: 65,927,249 (GRCm39) C49R possibly damaging Het
Serpini1 A G 3: 75,521,785 (GRCm39) D92G probably benign Het
Setdb2 A T 14: 59,656,858 (GRCm39) L153Q probably damaging Het
Sh3rf3 C T 10: 58,649,809 (GRCm39) T138M probably benign Het
Shkbp1 C T 7: 27,054,825 (GRCm39) probably null Het
Slc22a29 G A 19: 8,195,707 (GRCm39) P111S probably benign Het
Smarca1 A G X: 46,941,564 (GRCm39) V618A probably damaging Het
Spef2 T A 15: 9,609,602 (GRCm39) M1308L probably damaging Het
Spink5 A G 18: 44,123,775 (GRCm39) N354S probably benign Het
Srrm2 T C 17: 24,040,465 (GRCm39) S2370P probably damaging Het
Ssxb3 A T X: 8,454,905 (GRCm39) I28N probably damaging Het
Sucla2 A G 14: 73,831,119 (GRCm39) T411A probably damaging Het
Tex38 A C 4: 115,637,537 (GRCm39) S89A probably benign Het
Tjp2 A T 19: 24,088,437 (GRCm39) D723E probably damaging Het
Tln2 A T 9: 67,163,183 (GRCm39) N1121K probably damaging Het
Tti1 T C 2: 157,850,966 (GRCm39) E91G possibly damaging Het
Wbp2 A T 11: 115,973,191 (GRCm39) M72K possibly damaging Het
Wdfy4 C A 14: 32,828,001 (GRCm39) C1062F possibly damaging Het
Wiz A G 17: 32,578,346 (GRCm39) Y389H probably damaging Het
Zcchc3 T C 2: 152,256,012 (GRCm39) K229R probably damaging Het
Zmat3 C A 3: 32,415,131 (GRCm39) D60Y 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
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
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'- CGCAAGCATTTTAGTAGCAGAC -3'
(R):5'- AGCTAGATGTTACCAACTCCTCTTC -3'

Sequencing Primer
(F):5'- AGTAGCAGACTTGTAGTAATCTCAG -3'
(R):5'- TAGCTGTGGAAACCTTAAAAACAGC -3'
Posted On 2014-08-25