Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:Cep250'

327471

Institutional Source

Beutler Lab

Gene Symbol

Cep250

Ensembl Gene

ENSMUSG00000038241

Gene Name

centrosomal protein 250

Synonyms

B230210E21Rik, Cep2, Inmp

MMRRC Submission

041108-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4355 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

155798378-155840820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155833445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1789 (E1789G)

Ref Sequence

ENSEMBL: ENSMUSP00000038255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000094421] [ENSMUST00000109619] [ENSMUST00000124812] [ENSMUST00000128683]

AlphaFold

Q60952

Predicted Effect

probably damaging
Transcript: ENSMUST00000039994
AA Change: E1789G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: E1789G

Domain	Start	End	E-Value	Type
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: E1769G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: E1769G

Domain	Start	End	E-Value	Type
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: E1790G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: E1790G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
coiled coil region	2	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149905

Predicted Effect

probably benign
Transcript: ENSMUST00000156355

SMART Domains

Protein: ENSMUSP00000122223
Gene: ENSMUSG00000038241

Domain	Start	End	E-Value	Type
coiled coil region	12	47	N/A	INTRINSIC
coiled coil region	119	223	N/A	INTRINSIC

Meta Mutation Damage Score

0.0664

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 44,023,222 (GRCm39)	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,415,511 (GRCm39)	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,544,788 (GRCm39)	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,681,566 (GRCm39)	F173L	probably null	Het
Bcl3	G	T	7: 19,545,505 (GRCm39)	C208*	probably null	Het
Bmal1	A	G	7: 112,902,613 (GRCm39)	I421V	possibly damaging	Het
Casz1	T	C	4: 149,036,792 (GRCm39)	S1685P	unknown	Het
Cep76	A	T	18: 67,759,710 (GRCm39)	D334E	probably benign	Het
Clca3b	A	T	3: 144,531,219 (GRCm39)		probably null	Het
Col9a3	A	G	2: 180,248,271 (GRCm39)	S208G	probably benign	Het
Ddx47	T	C	6: 134,998,468 (GRCm39)	V388A	probably benign	Het
Dync1h1	C	T	12: 110,599,333 (GRCm39)	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 79,165,963 (GRCm39)	R411S	probably benign	Het
F7	A	G	8: 13,084,774 (GRCm39)	T267A	probably benign	Het
Fras1	C	A	5: 96,848,101 (GRCm39)	D1770E	probably benign	Het
G2e3	T	A	12: 51,412,120 (GRCm39)	Y387N	probably benign	Het
Hspg2	C	T	4: 137,256,729 (GRCm39)	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,217,260 (GRCm39)	I110M	probably benign	Het
Itgb5	T	A	16: 33,665,367 (GRCm39)	C28S	probably damaging	Het
Itprid2	A	G	2: 79,472,342 (GRCm39)	N132S	probably benign	Het
Kbtbd11	C	A	8: 15,078,578 (GRCm39)	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,309,189 (GRCm39)	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,855,036 (GRCm39)	C721Y	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klrc3	T	C	6: 129,616,125 (GRCm39)	M189V	probably benign	Het
Macf1	T	A	4: 123,368,884 (GRCm39)	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 47,848,449 (GRCm39)	G160R	possibly damaging	Het
Myb	A	G	10: 21,028,516 (GRCm39)	S116P	probably damaging	Het
Nf2	G	A	11: 4,730,613 (GRCm39)	Q513*	probably null	Het
Nmnat3	C	T	9: 98,292,205 (GRCm39)	T150M	possibly damaging	Het
Obi1	A	G	14: 104,716,693 (GRCm39)	V560A	probably benign	Het
Or11g27	T	C	14: 50,771,216 (GRCm39)	C116R	possibly damaging	Het
Or12k8	C	A	2: 36,974,942 (GRCm39)	V273F	probably benign	Het
Patj	T	G	4: 98,538,691 (GRCm39)	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,015,522 (GRCm39)	H246R	probably benign	Het
Pnp2	A	G	14: 51,197,082 (GRCm39)	H56R	probably benign	Het
Prkg1	A	G	19: 30,546,629 (GRCm39)		probably benign	Het
Rhbdf1	C	T	11: 32,166,236 (GRCm39)	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,027,556 (GRCm39)	K327E	possibly damaging	Het
Rsph6a	T	A	7: 18,801,003 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,664,698 (GRCm39)	N3535S	probably benign	Het
Ston1	T	G	17: 88,944,436 (GRCm39)	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695 (GRCm39)	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,957,144 (GRCm39)	I262N	probably benign	Het
Tmtc1	T	C	6: 148,256,596 (GRCm39)		probably benign	Het
Tshz2	G	A	2: 169,726,858 (GRCm39)	E16K	possibly damaging	Het
Ufsp2	T	A	8: 46,438,502 (GRCm39)	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,287,622 (GRCm39)	E182*	probably null	Het
Usp43	A	G	11: 67,782,290 (GRCm39)	V376A	probably benign	Het
Utp15	A	T	13: 98,395,755 (GRCm39)	F76I	possibly damaging	Het
Wdr62	A	C	7: 29,941,673 (GRCm39)	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,175,161 (GRCm39)	M18K	probably benign	Het

Other mutations in Cep250

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTTGAGAGAACGCAGCC -3'
(R):5'- GAGCACTTGTCTTTAGCTTCATGC -3'

Sequencing Primer
(F):5'- ATGAGCGTGCCGACGATG -3'
(R):5'- GCTTTCCTCCTGGTCCTGGG -3'

Posted On

2015-07-07