Incidental Mutation 'IGL01400:Cep250'
ID 79606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep250
Ensembl Gene ENSMUSG00000038241
Gene Name centrosomal protein 250
Synonyms B230210E21Rik, Cep2, Inmp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01400
Quality Score
Status
Chromosome 2
Chromosomal Location 155798378-155840820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 155840211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 2390 (T2390P)
Ref Sequence ENSEMBL: ENSMUSP00000105248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000086145] [ENSMUST00000094421] [ENSMUST00000109617] [ENSMUST00000109619] [ENSMUST00000124812] [ENSMUST00000140657] [ENSMUST00000144686]
AlphaFold Q60952
Predicted Effect possibly damaging
Transcript: ENSMUST00000039994
AA Change: T2389P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: T2389P

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 benign
Transcript: ENSMUST00000086145
Predicted Effect possibly damaging
Transcript: ENSMUST00000094421
AA Change: T2369P

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: T2369P

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 benign
Transcript: ENSMUST00000109617
SMART Domains Protein: ENSMUSP00000105246
Gene: ENSMUSG00000074646

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109619
AA Change: T2390P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: T2390P

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 noncoding transcript
Transcript: ENSMUST00000138025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148191
Predicted Effect probably benign
Transcript: ENSMUST00000140657
SMART Domains Protein: ENSMUSP00000118982
Gene: ENSMUSG00000074646

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144686
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,390,960 (GRCm39) I133N probably damaging Het
Abl2 T G 1: 156,462,754 (GRCm39) C510G probably damaging Het
Ambp T C 4: 63,070,959 (GRCm39) Y40C probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Arfgef3 G A 10: 18,528,454 (GRCm39) A311V probably damaging Het
Cass4 A G 2: 172,269,220 (GRCm39) D434G probably damaging Het
Cpm C A 10: 117,495,680 (GRCm39) N56K probably benign Het
Cspp1 T C 1: 10,156,156 (GRCm39) L455P probably damaging Het
Dcx T C X: 142,714,150 (GRCm39) K51E possibly damaging Het
Ehd3 T C 17: 74,135,089 (GRCm39) F322L probably benign Het
Ell A G 8: 71,031,563 (GRCm39) D87G probably damaging Het
Epor C T 9: 21,870,735 (GRCm39) probably null Het
Exosc10 T G 4: 148,649,728 (GRCm39) M386R probably damaging Het
Gpr152 T C 19: 4,193,626 (GRCm39) I389T probably benign Het
Gvin3 T A 7: 106,201,242 (GRCm39) E667D probably benign Het
Kmo T A 1: 175,482,661 (GRCm39) D328E possibly damaging Het
Llgl1 A G 11: 60,597,316 (GRCm39) H255R probably damaging Het
Lrch3 T A 16: 32,799,911 (GRCm39) H416Q probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mdm1 T G 10: 117,993,156 (GRCm39) H320Q probably damaging Het
Nol4 T A 18: 22,956,555 (GRCm39) H209L probably damaging Het
Or5p58 A T 7: 107,694,046 (GRCm39) C244S probably damaging Het
Pcdhac2 T C 18: 37,279,339 (GRCm39) V773A possibly damaging Het
Pde3a A G 6: 141,404,954 (GRCm39) N393S probably benign Het
Pik3r5 A G 11: 68,385,373 (GRCm39) K700R probably benign Het
Prob1 G A 18: 35,786,386 (GRCm39) R623C possibly damaging Het
Slc14a2 T C 18: 78,235,428 (GRCm39) N112D probably damaging Het
Snapc3 C T 4: 83,368,414 (GRCm39) P304S probably damaging Het
Spin2c T A X: 152,616,621 (GRCm39) W145R probably damaging Het
Tmem131l T C 3: 83,829,429 (GRCm39) E1075G probably damaging Het
Trip12 C T 1: 84,729,699 (GRCm39) R995Q probably damaging Het
Trpm6 T A 19: 18,803,158 (GRCm39) L867* probably null Het
Vmn1r87 T G 7: 12,866,230 (GRCm39) H19P probably damaging Het
Vps16 A G 2: 130,280,273 (GRCm39) E139G 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
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
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
Posted On 2013-11-05