Incidental Mutation 'R7178:Cep250'
ID 558745
Institutional Source Beutler Lab
Gene Symbol Cep250
Ensembl Gene ENSMUSG00000038241
Gene Name centrosomal protein 250
Synonyms B230210E21Rik, Cep2, Inmp
MMRRC Submission 045232-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7178 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155798378-155840820 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 155815375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 631 (L631*)
Ref Sequence ENSEMBL: ENSMUSP00000114426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000094421] [ENSMUST00000109619] [ENSMUST00000124812] [ENSMUST00000151569]
AlphaFold Q60952
Predicted Effect probably null
Transcript: ENSMUST00000039994
AA Change: L631*
SMART Domains Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: L631*

DomainStartEndE-ValueType
Pfam:Rootletin 38 215 4.2e-56 PFAM
low complexity region 228 241 N/A INTRINSIC
coiled coil region 248 327 N/A INTRINSIC
internal_repeat_1 444 460 1.47e-18 PROSPERO
internal_repeat_1 465 481 1.47e-18 PROSPERO
low complexity region 495 506 N/A INTRINSIC
low complexity region 557 580 N/A INTRINSIC
low complexity region 583 595 N/A INTRINSIC
low complexity region 635 650 N/A INTRINSIC
low complexity region 669 677 N/A INTRINSIC
low complexity region 688 703 N/A INTRINSIC
low complexity region 708 719 N/A INTRINSIC
low complexity region 896 914 N/A INTRINSIC
low complexity region 990 1007 N/A INTRINSIC
low complexity region 1043 1053 N/A INTRINSIC
low complexity region 1138 1143 N/A INTRINSIC
low complexity region 1182 1195 N/A INTRINSIC
coiled coil region 1257 1687 N/A INTRINSIC
low complexity region 1872 1895 N/A INTRINSIC
low complexity region 1919 1933 N/A INTRINSIC
low complexity region 1941 1960 N/A INTRINSIC
internal_repeat_2 2002 2052 3.9e-6 PROSPERO
coiled coil region 2068 2169 N/A INTRINSIC
coiled coil region 2196 2217 N/A INTRINSIC
coiled coil region 2251 2310 N/A INTRINSIC
low complexity region 2325 2338 N/A INTRINSIC
coiled coil region 2340 2366 N/A INTRINSIC
low complexity region 2379 2388 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000094421
AA Change: L611*
SMART Domains Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: L611*

DomainStartEndE-ValueType
Pfam:Rootletin 38 215 5.4e-56 PFAM
low complexity region 228 241 N/A INTRINSIC
coiled coil region 248 357 N/A INTRINSIC
coiled coil region 400 1165 N/A INTRINSIC
coiled coil region 1237 1667 N/A INTRINSIC
low complexity region 1852 1875 N/A INTRINSIC
low complexity region 1899 1913 N/A INTRINSIC
low complexity region 1921 1940 N/A INTRINSIC
internal_repeat_1 1982 2032 3.35e-6 PROSPERO
coiled coil region 2048 2149 N/A INTRINSIC
coiled coil region 2176 2197 N/A INTRINSIC
coiled coil region 2231 2290 N/A INTRINSIC
low complexity region 2305 2318 N/A INTRINSIC
coiled coil region 2320 2346 N/A INTRINSIC
low complexity region 2359 2368 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109619
AA Change: L632*
SMART Domains Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: L632*

DomainStartEndE-ValueType
Pfam:Rootletin 38 214 4.1e-60 PFAM
low complexity region 215 225 N/A INTRINSIC
low complexity region 228 241 N/A INTRINSIC
coiled coil region 248 357 N/A INTRINSIC
internal_repeat_1 445 461 1.51e-18 PROSPERO
internal_repeat_1 466 482 1.51e-18 PROSPERO
low complexity region 496 507 N/A INTRINSIC
low complexity region 558 581 N/A INTRINSIC
low complexity region 584 596 N/A INTRINSIC
low complexity region 636 651 N/A INTRINSIC
low complexity region 670 678 N/A INTRINSIC
low complexity region 689 704 N/A INTRINSIC
low complexity region 709 720 N/A INTRINSIC
low complexity region 897 915 N/A INTRINSIC
low complexity region 991 1008 N/A INTRINSIC
low complexity region 1044 1054 N/A INTRINSIC
low complexity region 1139 1144 N/A INTRINSIC
low complexity region 1183 1196 N/A INTRINSIC
coiled coil region 1258 1688 N/A INTRINSIC
low complexity region 1873 1896 N/A INTRINSIC
low complexity region 1920 1934 N/A INTRINSIC
low complexity region 1942 1961 N/A INTRINSIC
internal_repeat_2 2003 2053 3.95e-6 PROSPERO
coiled coil region 2069 2170 N/A INTRINSIC
coiled coil region 2197 2218 N/A INTRINSIC
coiled coil region 2252 2311 N/A INTRINSIC
low complexity region 2326 2339 N/A INTRINSIC
coiled coil region 2341 2367 N/A INTRINSIC
low complexity region 2380 2389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124812
Predicted Effect probably null
Transcript: ENSMUST00000151569
AA Change: L631*
SMART Domains Protein: ENSMUSP00000114426
Gene: ENSMUSG00000038241
AA Change: L631*

DomainStartEndE-ValueType
Pfam:Rootletin 38 215 1.3e-56 PFAM
low complexity region 228 241 N/A INTRINSIC
coiled coil region 248 327 N/A INTRINSIC
internal_repeat_1 444 460 1.16e-14 PROSPERO
internal_repeat_1 465 481 1.16e-14 PROSPERO
low complexity region 495 506 N/A INTRINSIC
low complexity region 557 580 N/A INTRINSIC
low complexity region 583 595 N/A INTRINSIC
low complexity region 635 650 N/A INTRINSIC
low complexity region 669 677 N/A INTRINSIC
low complexity region 688 703 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 A G 9: 54,535,745 (GRCm39) I130T possibly damaging Het
Adam24 T A 8: 41,133,039 (GRCm39) L169* probably null Het
Als2 A T 1: 59,246,971 (GRCm39) I556N probably damaging Het
Ankrd44 A T 1: 54,688,599 (GRCm39) N212K Het
Anpep T C 7: 79,490,736 (GRCm39) D260G probably benign Het
Arhgap17 A T 7: 122,884,581 (GRCm39) probably null Het
Atad2 C T 15: 57,980,689 (GRCm39) R383Q probably damaging Het
Atp11b T A 3: 35,874,099 (GRCm39) M696K probably benign Het
Atp13a2 A G 4: 140,726,462 (GRCm39) T350A probably damaging Het
Atp8b2 T C 3: 89,850,979 (GRCm39) D29G possibly damaging Het
Baz2a C T 10: 127,960,326 (GRCm39) R1514W probably damaging Het
Cimip2a G A 2: 25,110,252 (GRCm39) V55I probably damaging Het
Clec4a3 T C 6: 122,941,251 (GRCm39) I82T probably benign Het
Csmd3 T A 15: 47,454,170 (GRCm39) I2648F Het
Cul5 A G 9: 53,555,826 (GRCm39) F247L probably benign Het
Dnajc24 A T 2: 105,800,807 (GRCm39) M101K probably damaging Het
Dnhd1 T A 7: 105,344,200 (GRCm39) V1848E probably damaging Het
Dspp A G 5: 104,321,932 (GRCm39) T14A probably benign Het
Gm7298 T G 6: 121,762,855 (GRCm39) I1392S probably damaging Het
Gm9955 A T 18: 24,842,220 (GRCm39) S62R unknown Het
Gtsf1 T G 15: 103,328,388 (GRCm39) N130T probably benign Het
Heatr5a C A 12: 51,971,925 (GRCm39) S755I probably damaging Het
Hrc A G 7: 44,985,685 (GRCm39) T279A possibly damaging Het
Hvcn1 T C 5: 122,371,573 (GRCm39) W38R probably damaging Het
Hyal6 A G 6: 24,734,834 (GRCm39) S256G probably benign Het
Insyn2b G T 11: 34,352,359 (GRCm39) V134F probably damaging Het
Ipo13 A G 4: 117,761,081 (GRCm39) S546P possibly damaging Het
Katnip T C 7: 125,465,499 (GRCm39) V1317A probably benign Het
Kif24 A G 4: 41,395,085 (GRCm39) V730A probably benign Het
L3mbtl2 T C 15: 81,555,275 (GRCm39) V176A probably benign Het
Lgi1 T C 19: 38,294,733 (GRCm39) Y502H probably damaging Het
Liph T A 16: 21,795,078 (GRCm39) D178V probably damaging Het
Maea T C 5: 33,515,854 (GRCm39) V47A probably damaging Het
Mak16 A C 8: 31,656,602 (GRCm39) S42A probably benign Het
Mamdc4 T C 2: 25,458,977 (GRCm39) I269V probably benign Het
Mapk8ip3 A T 17: 25,120,728 (GRCm39) M812K probably benign Het
Muc4 T A 16: 32,752,788 (GRCm38) S889T unknown Het
Npy6r A G 18: 44,409,551 (GRCm39) N324S probably damaging Het
Ntrk3 T G 7: 78,005,895 (GRCm39) T489P possibly damaging Het
Or52a5b G A 7: 103,417,182 (GRCm39) Q141* probably null Het
Or5h19 T A 16: 58,856,296 (GRCm39) D268V probably benign Het
Or5t17 G A 2: 86,832,879 (GRCm39) V189I probably benign Het
Otof G C 5: 30,540,878 (GRCm39) T887S possibly damaging Het
Papola T C 12: 105,773,443 (GRCm39) V154A probably damaging Het
Pde4dip T C 3: 97,622,946 (GRCm39) H1421R probably benign Het
Plpp5 T C 8: 26,210,606 (GRCm39) S66P probably benign Het
Ppp6r3 T A 19: 3,568,337 (GRCm39) I154L probably benign Het
Prr18 A C 17: 8,560,741 (GRCm39) D299A possibly damaging Het
Psmb1 G A 17: 15,697,521 (GRCm39) S198F possibly damaging Het
Qars1 T C 9: 108,392,322 (GRCm39) V723A possibly damaging Het
Rab6a A T 7: 100,285,959 (GRCm39) R185* probably null Het
Scn2a C T 2: 65,579,197 (GRCm39) Q1511* probably null Het
Serpinb3d T A 1: 107,008,506 (GRCm39) I120F possibly damaging Het
Serpini2 T C 3: 75,165,455 (GRCm39) T175A probably damaging Het
Skic2 T C 17: 35,058,440 (GRCm39) T1226A probably benign Het
Slc17a6 A G 7: 51,317,259 (GRCm39) I427V possibly damaging Het
Slc2a2 C T 3: 28,773,631 (GRCm39) A312V possibly damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spcs1 G A 14: 30,722,438 (GRCm39) S127F possibly damaging Het
Speg T C 1: 75,399,027 (GRCm39) V2158A possibly damaging Het
Sptbn4 T A 7: 27,117,481 (GRCm39) I423F probably damaging Het
Synj2 T A 17: 6,076,754 (GRCm39) I930N possibly damaging Het
Tas2r140 T A 6: 133,032,623 (GRCm39) D45V probably damaging Het
Tcf3 C A 10: 80,257,433 (GRCm39) V11F unknown Het
Tead1 A T 7: 112,441,144 (GRCm39) Q91L probably benign Het
Tgm5 T A 2: 120,916,249 (GRCm39) probably benign Het
Tgoln1 C T 6: 72,593,028 (GRCm39) G151S probably benign Het
Tnfrsf11a C A 1: 105,755,264 (GRCm39) N445K probably benign Het
Ttn G C 2: 76,540,514 (GRCm39) F34157L probably benign Het
Vmn2r91 C A 17: 18,356,424 (GRCm39) P697Q probably damaging Het
Zeb2 G A 2: 44,887,006 (GRCm39) L684F probably damaging Het
Zfp661 T C 2: 127,419,456 (GRCm39) D228G probably benign Het
Zfp738 T C 13: 67,821,147 (GRCm39) K77E probably damaging Het
Zkscan1 T A 5: 138,099,192 (GRCm39) D378E probably damaging Het
Zswim9 T A 7: 12,993,924 (GRCm39) D744V possibly damaging Het
Other mutations in Cep250
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Cep250 APN 2 155,833,249 (GRCm39) missense probably benign 0.00
IGL01077:Cep250 APN 2 155,804,054 (GRCm39) missense probably damaging 1.00
IGL01084:Cep250 APN 2 155,840,313 (GRCm39) missense probably benign 0.00
IGL01400:Cep250 APN 2 155,840,211 (GRCm39) missense possibly damaging 0.78
IGL01570:Cep250 APN 2 155,809,583 (GRCm39) splice site probably benign
IGL01583:Cep250 APN 2 155,818,069 (GRCm39) missense probably damaging 0.99
IGL01590:Cep250 APN 2 155,834,237 (GRCm39) missense possibly damaging 0.80
IGL01647:Cep250 APN 2 155,825,296 (GRCm39) missense probably benign 0.02
IGL01959:Cep250 APN 2 155,825,279 (GRCm39) missense possibly damaging 0.63
IGL02066:Cep250 APN 2 155,818,441 (GRCm39) missense probably damaging 1.00
IGL02219:Cep250 APN 2 155,833,514 (GRCm39) missense probably benign 0.26
IGL02322:Cep250 APN 2 155,832,248 (GRCm39) missense probably damaging 1.00
IGL02728:Cep250 APN 2 155,825,198 (GRCm39) unclassified probably benign
IGL02955:Cep250 APN 2 155,817,676 (GRCm39) missense probably benign 0.01
IGL03369:Cep250 APN 2 155,832,191 (GRCm39) missense probably benign 0.00
R0366:Cep250 UTSW 2 155,830,321 (GRCm39) missense probably benign 0.00
R0403:Cep250 UTSW 2 155,834,269 (GRCm39) missense probably damaging 0.99
R0441:Cep250 UTSW 2 155,813,924 (GRCm39) missense possibly damaging 0.82
R0482:Cep250 UTSW 2 155,806,894 (GRCm39) splice site probably benign
R0507:Cep250 UTSW 2 155,834,452 (GRCm39) missense possibly damaging 0.60
R0614:Cep250 UTSW 2 155,812,017 (GRCm39) nonsense probably null
R0855:Cep250 UTSW 2 155,806,031 (GRCm39) missense probably damaging 1.00
R0973:Cep250 UTSW 2 155,806,209 (GRCm39) splice site probably benign
R1137:Cep250 UTSW 2 155,832,760 (GRCm39) missense probably benign 0.05
R1270:Cep250 UTSW 2 155,832,601 (GRCm39) missense probably benign 0.01
R1313:Cep250 UTSW 2 155,813,999 (GRCm39) missense probably damaging 0.98
R1313:Cep250 UTSW 2 155,813,999 (GRCm39) missense probably damaging 0.98
R1470:Cep250 UTSW 2 155,832,995 (GRCm39) missense probably damaging 0.99
R1470:Cep250 UTSW 2 155,832,995 (GRCm39) missense probably damaging 0.99
R1703:Cep250 UTSW 2 155,807,466 (GRCm39) missense probably benign 0.23
R1705:Cep250 UTSW 2 155,805,706 (GRCm39) missense probably damaging 1.00
R1740:Cep250 UTSW 2 155,815,276 (GRCm39) missense probably damaging 0.99
R1796:Cep250 UTSW 2 155,834,107 (GRCm39) missense possibly damaging 0.88
R1897:Cep250 UTSW 2 155,818,015 (GRCm39) missense probably damaging 1.00
R1900:Cep250 UTSW 2 155,827,294 (GRCm39) critical splice donor site probably null
R1958:Cep250 UTSW 2 155,818,301 (GRCm39) splice site probably null
R1974:Cep250 UTSW 2 155,831,424 (GRCm39) missense probably damaging 0.96
R2015:Cep250 UTSW 2 155,823,373 (GRCm39) missense probably damaging 0.96
R2033:Cep250 UTSW 2 155,812,812 (GRCm39) missense probably damaging 0.99
R2224:Cep250 UTSW 2 155,833,737 (GRCm39) missense possibly damaging 0.94
R2266:Cep250 UTSW 2 155,818,090 (GRCm39) missense probably benign 0.13
R2278:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R2332:Cep250 UTSW 2 155,832,527 (GRCm39) missense probably damaging 1.00
R2364:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R2366:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R2367:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R2385:Cep250 UTSW 2 155,816,261 (GRCm39) missense probably damaging 1.00
R2830:Cep250 UTSW 2 155,825,236 (GRCm39) missense probably benign 0.00
R2895:Cep250 UTSW 2 155,834,042 (GRCm39) missense probably benign 0.00
R2965:Cep250 UTSW 2 155,836,798 (GRCm39) missense probably benign 0.44
R2966:Cep250 UTSW 2 155,836,798 (GRCm39) missense probably benign 0.44
R3016:Cep250 UTSW 2 155,833,208 (GRCm39) missense probably damaging 1.00
R3052:Cep250 UTSW 2 155,832,968 (GRCm39) missense probably damaging 0.99
R3424:Cep250 UTSW 2 155,823,381 (GRCm39) missense probably benign 0.02
R3930:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R4085:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R4087:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R4088:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R4090:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R4110:Cep250 UTSW 2 155,834,552 (GRCm39) missense probably damaging 1.00
R4355:Cep250 UTSW 2 155,833,445 (GRCm39) missense probably damaging 1.00
R4601:Cep250 UTSW 2 155,803,973 (GRCm39) missense probably benign 0.10
R4721:Cep250 UTSW 2 155,812,119 (GRCm39) missense probably damaging 1.00
R4995:Cep250 UTSW 2 155,830,236 (GRCm39) missense probably damaging 1.00
R5053:Cep250 UTSW 2 155,804,848 (GRCm39) missense possibly damaging 0.77
R5090:Cep250 UTSW 2 155,818,324 (GRCm39) missense probably damaging 1.00
R5744:Cep250 UTSW 2 155,823,394 (GRCm39) missense possibly damaging 0.60
R5775:Cep250 UTSW 2 155,811,294 (GRCm39) missense possibly damaging 0.92
R5986:Cep250 UTSW 2 155,821,197 (GRCm39) missense probably damaging 1.00
R6112:Cep250 UTSW 2 155,836,503 (GRCm39) missense possibly damaging 0.95
R6152:Cep250 UTSW 2 155,823,358 (GRCm39) missense possibly damaging 0.94
R6823:Cep250 UTSW 2 155,823,379 (GRCm39) missense probably benign 0.02
R6859:Cep250 UTSW 2 155,834,446 (GRCm39) missense probably benign 0.24
R6900:Cep250 UTSW 2 155,838,190 (GRCm39) critical splice acceptor site probably null
R7107:Cep250 UTSW 2 155,837,314 (GRCm39) missense probably benign 0.00
R7131:Cep250 UTSW 2 155,806,997 (GRCm39) missense probably damaging 1.00
R7241:Cep250 UTSW 2 155,833,472 (GRCm39) missense probably benign 0.20
R7264:Cep250 UTSW 2 155,821,071 (GRCm39) missense probably damaging 0.99
R7290:Cep250 UTSW 2 155,834,682 (GRCm39) missense probably benign 0.03
R7367:Cep250 UTSW 2 155,811,227 (GRCm39) missense probably benign 0.00
R7397:Cep250 UTSW 2 155,823,331 (GRCm39) missense probably damaging 0.99
R7768:Cep250 UTSW 2 155,827,929 (GRCm39) missense
R7823:Cep250 UTSW 2 155,807,336 (GRCm39) missense possibly damaging 0.89
R8152:Cep250 UTSW 2 155,811,227 (GRCm39) missense probably benign 0.00
R8331:Cep250 UTSW 2 155,832,173 (GRCm39) missense probably damaging 1.00
R8559:Cep250 UTSW 2 155,834,656 (GRCm39) missense probably damaging 0.99
R8972:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R8973:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R8974:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R8975:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R8976:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R9072:Cep250 UTSW 2 155,834,035 (GRCm39) missense probably benign 0.01
R9123:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R9127:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R9128:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R9167:Cep250 UTSW 2 155,828,920 (GRCm39) missense
R9189:Cep250 UTSW 2 155,818,350 (GRCm39) missense probably benign 0.00
R9198:Cep250 UTSW 2 155,830,354 (GRCm39) critical splice donor site probably null
R9227:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R9228:Cep250 UTSW 2 155,812,042 (GRCm39) missense unknown
R9292:Cep250 UTSW 2 155,832,688 (GRCm39) missense probably damaging 0.99
R9516:Cep250 UTSW 2 155,833,459 (GRCm39) missense probably benign 0.00
R9723:Cep250 UTSW 2 155,823,337 (GRCm39) missense probably benign 0.00
R9760:Cep250 UTSW 2 155,818,473 (GRCm39) missense probably benign 0.02
X0061:Cep250 UTSW 2 155,803,905 (GRCm39) missense probably benign 0.05
Z1177:Cep250 UTSW 2 155,818,387 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTTTCTGTGCTGTGACCACC -3'
(R):5'- GGGGATTTACAGTGCTTAAGGC -3'

Sequencing Primer
(F):5'- GTGACCACCTGTCTCATGAATGAATG -3'
(R):5'- GGGATTTACAGTGCTTAAGGCTAATC -3'
Posted On 2019-06-26