Mutagenetix > Incidental Mutations

Incidental Mutation 'R1703:Cep250'

189864

Institutional Source

Beutler Lab

Gene Symbol

Cep250

Ensembl Gene

ENSMUSG00000038241

Gene Name

centrosomal protein 250

Synonyms

Cep2, Inmp, B230210E21Rik

MMRRC Submission

039736-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1703 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

155956458-155998900 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155965546 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 277 (K277R)

Ref Sequence

ENSEMBL: ENSMUSP00000038255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039994] [ENSMUST00000094421] [ENSMUST00000109618] [ENSMUST00000109619] [ENSMUST00000151569]

Predicted Effect

probably benign
Transcript: ENSMUST00000039994
AA Change: K277R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: K277R

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

probably benign
Transcript: ENSMUST00000094421
AA Change: K277R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: K277R

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 benign
Transcript: ENSMUST00000109618
AA Change: K277R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105247
Gene: ENSMUSG00000038241
AA Change: K277R

Domain	Start	End	E-Value	Type
Pfam:Rootletin	38	215	2.3e-57	PFAM
low complexity region	228	241	N/A	INTRINSIC
coiled coil region	248	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109619
AA Change: K277R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: K277R

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

noncoding transcript
Transcript: ENSMUST00000149905

Predicted Effect

probably benign
Transcript: ENSMUST00000151569
AA Change: K277R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114426
Gene: ENSMUSG00000038241
AA Change: K277R

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,702	Y401*	probably null	Het
4932415M13Rik	C	A	17: 53,725,037		noncoding transcript	Het
Acoxl	T	A	2: 127,978,772	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,677,614	C915R	probably damaging	Het
Adgra3	C	T	5: 50,006,775	M287I	probably benign	Het
Afg1l	T	G	10: 42,400,399	D250A	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Amfr	T	C	8: 93,974,243	T530A	probably benign	Het
Ank2	C	T	3: 126,929,766	V971M	probably damaging	Het
App	A	G	16: 84,965,768	S656P	probably damaging	Het
Arid5a	T	A	1: 36,319,575		probably null	Het
Asic5	T	A	3: 81,999,722	V60D	possibly damaging	Het
Atm	G	T	9: 53,500,700	H1019N	probably benign	Het
Btbd11	A	G	10: 85,387,384	D19G	unknown	Het
Chrna7	C	T	7: 63,099,507	R409H	probably damaging	Het
Chrng	A	T	1: 87,210,906	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,245,819	S199G	probably benign	Het
Clstn2	A	T	9: 97,458,237	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,233,838		probably benign	Het
Cyp2c69	T	A	19: 39,876,366	I223F	probably benign	Het
Dennd1b	A	T	1: 139,169,754		probably null	Het
Dnah17	A	T	11: 118,026,749	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,323,451	M506V	probably benign	Het
Ecsit	A	G	9: 22,074,811	V173A	probably damaging	Het
Fam13b	T	C	18: 34,451,439		probably null	Het
Fgl2	T	A	5: 21,372,732	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,619,172	R503H	probably damaging	Het
Gm884	C	T	11: 103,540,874	V1372I	probably benign	Het
Gramd1a	C	T	7: 31,139,534	V247M	possibly damaging	Het
Grip2	A	T	6: 91,777,398	I632N	probably damaging	Het
Hspg2	T	C	4: 137,559,151	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,789,892	Y660C	probably benign	Het
Isg15	T	C	4: 156,199,808	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,910,500	D388E	probably benign	Het
Jhy	T	C	9: 40,944,837	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,205,326	T931M	probably damaging	Het
Kif21a	A	G	15: 90,949,047		probably null	Het
Lama2	A	T	10: 27,266,671	Y604N	probably damaging	Het
Lrp3	T	G	7: 35,213,161	S34R	possibly damaging	Het
Lyn	T	C	4: 3,738,867		probably null	Het
Mroh8	C	T	2: 157,271,976	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,148,093	F977L	probably damaging	Het
Nol8	C	T	13: 49,667,457	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,208,417	N169K	probably damaging	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr1188	T	A	2: 88,560,255	M262K	possibly damaging	Het
Oplah	A	G	15: 76,296,667	Y1279H	probably benign	Het
Pcsk5	T	C	19: 17,752,094	N129S	probably benign	Het
Pcyt2	G	T	11: 120,613,068	P185T	probably benign	Het
Pdlim2	A	G	14: 70,174,335		probably null	Het
Pgs1	T	C	11: 118,014,728		probably benign	Het
Qprt	A	G	7: 127,108,171	V251A	probably benign	Het
Rasal2	A	C	1: 157,157,600	L834R	probably damaging	Het
Reg1	T	C	6: 78,428,449	C161R	probably damaging	Het
Rp1	T	A	1: 4,345,169	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,244,050	D360G	possibly damaging	Het
Sart3	C	A	5: 113,752,219	V482F	probably benign	Het
Scarf2	A	G	16: 17,802,849	E127G	probably damaging	Het
Serinc5	T	C	13: 92,688,797	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,993,517	R57L	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sgca	A	T	11: 94,969,391	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,454,575	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 83,030,043		noncoding transcript	Het
Spam1	A	T	6: 24,796,257	D69V	probably damaging	Het
Tanc1	A	G	2: 59,843,021	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,239,215	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tlx1	A	G	19: 45,156,004	D55G	possibly damaging	Het
Tram2	G	T	1: 21,004,234	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,658	Y325C	probably damaging	Het
Ubac2	T	A	14: 121,905,170	S27T	probably benign	Het
Utrn	G	A	10: 12,727,729		probably benign	Het
Vnn3	A	T	10: 23,865,930	M378L	probably benign	Het
Vps18	T	A	2: 119,289,057	D6E	probably benign	Het
Xkr5	T	A	8: 18,939,118	I253F	probably benign	Het
Yeats4	A	T	10: 117,215,723	C210S	probably benign	Het
Zdhhc20	A	G	14: 57,839,088		probably null	Het

Other mutations in Cep250

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Cep250	APN	2	155991329	missense	probably benign	0.00
IGL01077:Cep250	APN	2	155962134	missense	probably damaging	1.00
IGL01084:Cep250	APN	2	155998393	missense	probably benign	0.00
IGL01400:Cep250	APN	2	155998291	missense	possibly damaging	0.78
IGL01570:Cep250	APN	2	155967663	splice site	probably benign
IGL01583:Cep250	APN	2	155976149	missense	probably damaging	0.99
IGL01590:Cep250	APN	2	155992317	missense	possibly damaging	0.80
IGL01647:Cep250	APN	2	155983376	missense	probably benign	0.02
IGL01959:Cep250	APN	2	155983359	missense	possibly damaging	0.63
IGL02066:Cep250	APN	2	155976521	missense	probably damaging	1.00
IGL02219:Cep250	APN	2	155991594	missense	probably benign	0.26
IGL02322:Cep250	APN	2	155990328	missense	probably damaging	1.00
IGL02728:Cep250	APN	2	155983278	unclassified	probably benign
IGL02955:Cep250	APN	2	155975756	missense	probably benign	0.01
IGL03369:Cep250	APN	2	155990271	missense	probably benign	0.00
R0366:Cep250	UTSW	2	155988401	missense	probably benign	0.00
R0403:Cep250	UTSW	2	155992349	missense	probably damaging	0.99
R0441:Cep250	UTSW	2	155972004	missense	possibly damaging	0.82
R0482:Cep250	UTSW	2	155964974	splice site	probably benign
R0507:Cep250	UTSW	2	155992532	missense	possibly damaging	0.60
R0614:Cep250	UTSW	2	155970097	nonsense	probably null
R0855:Cep250	UTSW	2	155964111	missense	probably damaging	1.00
R0973:Cep250	UTSW	2	155964289	splice site	probably benign
R1137:Cep250	UTSW	2	155990840	missense	probably benign	0.05
R1270:Cep250	UTSW	2	155990681	missense	probably benign	0.01
R1313:Cep250	UTSW	2	155972079	missense	probably damaging	0.98
R1313:Cep250	UTSW	2	155972079	missense	probably damaging	0.98
R1470:Cep250	UTSW	2	155991075	missense	probably damaging	0.99
R1470:Cep250	UTSW	2	155991075	missense	probably damaging	0.99
R1705:Cep250	UTSW	2	155963786	missense	probably damaging	1.00
R1740:Cep250	UTSW	2	155973356	missense	probably damaging	0.99
R1796:Cep250	UTSW	2	155992187	missense	possibly damaging	0.88
R1897:Cep250	UTSW	2	155976095	missense	probably damaging	1.00
R1900:Cep250	UTSW	2	155985374	critical splice donor site	probably null
R1958:Cep250	UTSW	2	155976381	splice site	probably null
R1974:Cep250	UTSW	2	155989504	missense	probably damaging	0.96
R2015:Cep250	UTSW	2	155981453	missense	probably damaging	0.96
R2033:Cep250	UTSW	2	155970892	missense	probably damaging	0.99
R2224:Cep250	UTSW	2	155991817	missense	possibly damaging	0.94
R2266:Cep250	UTSW	2	155976170	missense	probably benign	0.13
R2278:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R2332:Cep250	UTSW	2	155990607	missense	probably damaging	1.00
R2364:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R2366:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R2367:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R2385:Cep250	UTSW	2	155974341	missense	probably damaging	1.00
R2830:Cep250	UTSW	2	155983316	missense	probably benign	0.00
R2895:Cep250	UTSW	2	155992122	missense	probably benign	0.00
R2965:Cep250	UTSW	2	155994878	missense	probably benign	0.44
R2966:Cep250	UTSW	2	155994878	missense	probably benign	0.44
R3016:Cep250	UTSW	2	155991288	missense	probably damaging	1.00
R3052:Cep250	UTSW	2	155991048	missense	probably damaging	0.99
R3424:Cep250	UTSW	2	155981461	missense	probably benign	0.02
R3930:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R4085:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R4087:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R4088:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R4090:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R4110:Cep250	UTSW	2	155992632	missense	probably damaging	1.00
R4355:Cep250	UTSW	2	155991525	missense	probably damaging	1.00
R4601:Cep250	UTSW	2	155962053	missense	probably benign	0.10
R4721:Cep250	UTSW	2	155970199	missense	probably damaging	1.00
R4995:Cep250	UTSW	2	155988316	missense	probably damaging	1.00
R5053:Cep250	UTSW	2	155962928	missense	possibly damaging	0.77
R5090:Cep250	UTSW	2	155976404	missense	probably damaging	1.00
R5744:Cep250	UTSW	2	155981474	missense	possibly damaging	0.60
R5775:Cep250	UTSW	2	155969374	missense	possibly damaging	0.92
R5986:Cep250	UTSW	2	155979277	missense	probably damaging	1.00
R6112:Cep250	UTSW	2	155994583	missense	possibly damaging	0.95
R6152:Cep250	UTSW	2	155981438	missense	possibly damaging	0.94
R6823:Cep250	UTSW	2	155981459	missense	probably benign	0.02
R6859:Cep250	UTSW	2	155992526	missense	probably benign	0.24
R6900:Cep250	UTSW	2	155996270	critical splice acceptor site	probably null
R7107:Cep250	UTSW	2	155995394	missense	probably benign	0.00
R7131:Cep250	UTSW	2	155965077	missense	probably damaging	1.00
R7178:Cep250	UTSW	2	155973455	nonsense	probably null
R7241:Cep250	UTSW	2	155991552	missense	probably benign	0.20
R7264:Cep250	UTSW	2	155979151	missense	probably damaging	0.99
R7290:Cep250	UTSW	2	155992762	missense	probably benign	0.03
R7367:Cep250	UTSW	2	155969307	missense	probably benign	0.00
R7397:Cep250	UTSW	2	155981411	missense	probably damaging	0.99
R7768:Cep250	UTSW	2	155986009	missense
R7823:Cep250	UTSW	2	155965416	missense	possibly damaging	0.89
R8152:Cep250	UTSW	2	155969307	missense	probably benign	0.00
R8331:Cep250	UTSW	2	155990253	missense	probably damaging	1.00
X0061:Cep250	UTSW	2	155961985	missense	probably benign	0.05
Z1177:Cep250	UTSW	2	155976467	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCTGACAGAGCTAAAGGCTGAACAC -3'
(R):5'- GGAGACTGCTGACATCACAAACCAG -3'

Sequencing Primer
(F):5'- TTCAGGGTCCCTGCTGAC -3'
(R):5'- CAGGACAGAGACTGGTTGC -3'

Posted On

2014-05-14