Incidental Mutation 'R6112:Cep250'
ID 484887
Institutional Source Beutler Lab
Gene Symbol Cep250
Ensembl Gene ENSMUSG00000038241
Gene Name centrosomal protein 250
Synonyms B230210E21Rik, Cep2, Inmp
MMRRC Submission 044261-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6112 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155798378-155840820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155836503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 2211 (L2211I)
Ref Sequence ENSEMBL: ENSMUSP00000105248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000094421] [ENSMUST00000109619] [ENSMUST00000124812] [ENSMUST00000128683]
AlphaFold Q60952
Predicted Effect possibly damaging
Transcript: ENSMUST00000039994
AA Change: L2210I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: L2210I

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 possibly damaging
Transcript: ENSMUST00000094421
AA Change: L2190I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: L2190I

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 possibly damaging
Transcript: ENSMUST00000109619
AA Change: L2211I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: L2211I

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 noncoding transcript
Transcript: ENSMUST00000148191
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,278,780 (GRCm39) Y1030C probably damaging Het
Adh5 G T 3: 138,157,029 (GRCm39) V197F probably damaging Het
Ankmy1 A T 1: 92,798,684 (GRCm39) F936I probably damaging Het
Aoc1 A T 6: 48,885,625 (GRCm39) D710V probably damaging Het
Aplp1 T C 7: 30,134,902 (GRCm39) E622G probably damaging Het
Arhgap20 T C 9: 51,740,684 (GRCm39) Y219H probably damaging Het
Bag3 A G 7: 128,143,556 (GRCm39) D184G probably damaging Het
Cacna1g C T 11: 94,300,072 (GRCm39) A2216T probably damaging Het
Cbarp T C 10: 79,971,205 (GRCm39) probably null Het
Cfap65 A G 1: 74,942,298 (GRCm39) I1752T probably benign Het
Col4a4 A G 1: 82,431,604 (GRCm39) V1560A unknown Het
Dapk3 A T 10: 81,019,864 (GRCm39) Q6L probably benign Het
Dctn5 A G 7: 121,732,460 (GRCm39) probably benign Het
Eef1akmt1 A T 14: 57,787,330 (GRCm39) I182N possibly damaging Het
Eef1g T C 19: 8,954,955 (GRCm39) F346S probably damaging Het
Erap1 G T 13: 74,794,398 (GRCm39) W19L probably benign Het
Gm10801 A G 2: 98,494,409 (GRCm39) H162R probably benign Het
Gpm6a G A 8: 55,507,845 (GRCm39) A194T probably benign Het
Grip1 C A 10: 119,829,137 (GRCm39) N32K probably benign Het
Hmcn1 A G 1: 150,494,687 (GRCm39) I4134T probably damaging Het
Hspa14 G A 2: 3,499,105 (GRCm39) H230Y probably benign Het
Ift172 T C 5: 31,414,241 (GRCm39) T1435A probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Lcor T C 19: 41,547,520 (GRCm39) V368A possibly damaging Het
Lmna C A 3: 88,393,928 (GRCm39) E217* probably null Het
Lrp1b C T 2: 41,231,894 (GRCm39) G337E probably benign Het
Maf1 A G 15: 76,236,312 (GRCm39) probably benign Het
Magi1 T C 6: 93,722,571 (GRCm39) I436V probably damaging Het
Muc4 C T 16: 32,596,157 (GRCm39) T3123I possibly damaging Het
Muc5b T A 7: 141,417,042 (GRCm39) H3329Q probably benign Het
Noa1 C T 5: 77,457,593 (GRCm39) R104Q probably benign Het
Odc1 T G 12: 17,599,473 (GRCm39) S267A probably benign Het
Or5p60 T A 7: 107,724,369 (GRCm39) I34F probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Pamr1 T C 2: 102,441,953 (GRCm39) Y181H probably damaging Het
Pcdhga2 T A 18: 37,802,612 (GRCm39) I152N probably damaging Het
Pigt C T 2: 164,348,365 (GRCm39) Q437* probably null Het
Prx T C 7: 27,215,973 (GRCm39) L158P probably damaging Het
Ptprh T A 7: 4,600,922 (GRCm39) T152S probably benign Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rad51ap2 T C 12: 11,507,290 (GRCm39) I404T probably benign Het
Radil C T 5: 142,529,399 (GRCm39) R99H probably damaging Het
Rc3h2 C T 2: 37,268,899 (GRCm39) V856I possibly damaging Het
Slx4ip T A 2: 136,888,664 (GRCm39) V115E probably damaging Het
Snx3 C A 10: 42,402,042 (GRCm39) S85R probably benign Het
Sppl2c A T 11: 104,077,963 (GRCm39) E254D probably benign Het
Srms C A 2: 180,849,780 (GRCm39) E237* probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Trank1 T C 9: 111,220,805 (GRCm39) L2514P probably damaging Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Usp4 A G 9: 108,233,703 (GRCm39) Y108C probably damaging Het
Vmn2r60 A T 7: 41,844,847 (GRCm39) I737F probably damaging Het
Zfp600 A T 4: 146,131,701 (GRCm39) H123L probably benign Het
Zfp646 G T 7: 127,478,190 (GRCm39) R122S possibly damaging Het
Znfx1 A G 2: 166,880,126 (GRCm39) Y553H 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
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
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'- ATCGTTTCCCTGTGAGCCTG -3'
(R):5'- GCTTCAGAGACCCATTCCTAAG -3'

Sequencing Primer
(F):5'- TGTGAGCCTGTGACACCAC -3'
(R):5'- TTCCTAAGGGACAACAAGCG -3'
Posted On 2017-08-16