Incidental Mutation 'R8559:Cep250'
ID 660908
Institutional Source Beutler Lab
Gene Symbol Cep250
Ensembl Gene ENSMUSG00000038241
Gene Name centrosomal protein 250
Synonyms B230210E21Rik, Cep2, Inmp
MMRRC Submission 068522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8559 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155798378-155840820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155834656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2194 (S2194T)
Ref Sequence ENSEMBL: ENSMUSP00000105248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000094421] [ENSMUST00000109619] [ENSMUST00000124812] [ENSMUST00000128683]
AlphaFold Q60952
Predicted Effect probably damaging
Transcript: ENSMUST00000039994
AA Change: S2193T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: S2193T

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 damaging
Transcript: ENSMUST00000094421
AA Change: S2173T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: S2173T

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 damaging
Transcript: ENSMUST00000109619
AA Change: S2194T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: S2194T

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 benign
Transcript: ENSMUST00000128683
SMART Domains Protein: ENSMUSP00000119845
Gene: ENSMUSG00000038241

DomainStartEndE-ValueType
coiled coil region 2 37 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156355
SMART Domains Protein: ENSMUSP00000122223
Gene: ENSMUSG00000038241

DomainStartEndE-ValueType
coiled coil region 12 47 N/A INTRINSIC
coiled coil region 119 223 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T A 10: 89,568,048 (GRCm39) H19L probably benign Het
Adamts9 A T 6: 92,784,117 (GRCm39) V1579E probably benign Het
Arhgap40 C T 2: 158,383,721 (GRCm39) R435C probably damaging Het
Atp1a4 T C 1: 172,078,897 (GRCm39) D207G probably damaging Het
Btaf1 A G 19: 36,964,273 (GRCm39) N948S probably benign Het
Calcr G A 6: 3,692,603 (GRCm39) P417L probably damaging Het
Ccn2 CCCGCCAACCGC CCCGC 10: 24,471,966 (GRCm39) probably null Het
Clcn6 C T 4: 148,111,032 (GRCm39) V102M possibly damaging Het
Cog2 T C 8: 125,269,647 (GRCm39) S396P probably benign Het
Col28a1 C A 6: 8,166,681 (GRCm39) R265L unknown Het
Cpa6 C T 1: 10,478,574 (GRCm39) W254* probably null Het
Crtc2 T A 3: 90,170,904 (GRCm39) M659K possibly damaging Het
Dnah7c A G 1: 46,764,299 (GRCm39) Y3020C probably damaging Het
Dok2 C A 14: 71,014,968 (GRCm39) H232N probably benign Het
Edem3 A G 1: 151,694,169 (GRCm39) E834G probably benign Het
Elac2 T A 11: 64,872,502 (GRCm39) probably null Het
Epx T A 11: 87,755,618 (GRCm39) I689F probably damaging Het
Exd2 G A 12: 80,522,631 (GRCm39) R30H probably benign Het
Gja1 T C 10: 56,264,304 (GRCm39) L221P probably damaging Het
Gli3 T A 13: 15,834,717 (GRCm39) L400Q probably damaging Het
Gm8439 T A 4: 120,458,008 (GRCm39) W50R unknown Het
Greb1 T A 12: 16,746,436 (GRCm39) D1278V probably damaging Het
Grin3a C A 4: 49,770,555 (GRCm39) C739F probably damaging Het
Gucy2g C A 19: 55,198,786 (GRCm39) V786F probably benign Het
Hmcn1 G A 1: 150,551,789 (GRCm39) T2605I probably benign Het
Hmgxb3 T A 18: 61,288,491 (GRCm39) T459S probably benign Het
Ift172 T C 5: 31,413,921 (GRCm39) H1469R probably damaging Het
Il1rap A G 16: 26,530,884 (GRCm39) I407V probably benign Het
Inppl1 G T 7: 101,478,834 (GRCm39) S555* probably null Het
Krt8 T C 15: 101,909,979 (GRCm39) M142V probably benign Het
Lrrk1 T A 7: 65,932,075 (GRCm39) N1049I possibly damaging Het
Megf10 G A 18: 57,373,699 (GRCm39) A166T probably damaging Het
Mei4 A T 9: 81,907,684 (GRCm39) H338L probably benign Het
Mfsd2b T C 12: 4,921,471 (GRCm39) T33A possibly damaging Het
Mgat3 A T 15: 80,096,370 (GRCm39) Y399F probably damaging Het
Mtmr4 C T 11: 87,494,950 (GRCm39) T414I probably damaging Het
Muc4 T C 16: 32,754,715 (GRCm38) S1530P unknown Het
Myl4 T C 11: 104,474,930 (GRCm39) V93A possibly damaging Het
N4bp2 T A 5: 65,982,628 (GRCm39) S1627R possibly damaging Het
Narf T G 11: 121,141,258 (GRCm39) probably null Het
Nbas A C 12: 13,402,809 (GRCm39) I788L probably benign Het
Nlrc3 A G 16: 3,783,146 (GRCm39) S104P probably benign Het
Or14j6 A T 17: 38,214,719 (GRCm39) Y94F probably benign Het
Or4a68 T A 2: 89,270,528 (GRCm39) I32F probably benign Het
Or4c11 A T 2: 88,695,527 (GRCm39) I193L probably benign Het
Or8k3 A G 2: 86,058,988 (GRCm39) V109A probably benign Het
Ppp4r4 A T 12: 103,559,420 (GRCm39) T534S probably benign Het
Prg3 A G 2: 84,819,680 (GRCm39) E58G probably benign Het
Prima1 A G 12: 103,163,512 (GRCm39) V153A possibly damaging Het
Rp1 A T 1: 4,419,784 (GRCm39) Y443N probably damaging Het
Rpgrip1 T C 14: 52,386,714 (GRCm39) S882P unknown Het
Scn1a T A 2: 66,118,077 (GRCm39) D412V probably damaging Het
Srcin1 T C 11: 97,427,975 (GRCm39) T180A probably damaging Het
Suox A G 10: 128,506,600 (GRCm39) L476P probably damaging Het
Tas2r104 T C 6: 131,662,388 (GRCm39) Y107C probably damaging Het
Tubg2 T C 11: 101,047,610 (GRCm39) V65A probably damaging Het
Ubn1 T C 16: 4,882,634 (GRCm39) V365A possibly damaging Het
Vmn2r103 A G 17: 20,032,646 (GRCm39) M807V probably benign Het
Vmn2r75 T A 7: 85,815,480 (GRCm39) Y128F possibly damaging Het
Vps13b A T 15: 35,876,788 (GRCm39) I2814F probably damaging Het
Vps54 T C 11: 21,214,815 (GRCm39) Y108H probably damaging Het
Wdr6 T A 9: 108,452,593 (GRCm39) E430V probably benign Het
Zfp619 T A 7: 39,186,559 (GRCm39) V863E probably benign 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
R7178:Cep250 UTSW 2 155,815,375 (GRCm39) nonsense probably null
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
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'- ATTCTGATGCTGAGGGAGGC -3'
(R):5'- TCCTCTGCTAGCTCTGAGGTATG -3'

Sequencing Primer
(F):5'- GAGAAGCCAGCTCTGCAAC -3'
(R):5'- CTAGCTCTGAGGTATGGTACTCAC -3'
Posted On 2021-03-08