Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Cep250'

197910

Institutional Source

Beutler Lab

Gene Symbol

Cep250

Ensembl Gene

ENSMUSG00000038241

Gene Name

centrosomal protein 250

Synonyms

B230210E21Rik, Cep2, Inmp

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155798378-155840820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155832995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1639 (E1639G)

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: E1639G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038255
Gene: ENSMUSG00000038241
AA Change: E1639G

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 damaging
Transcript: ENSMUST00000094421
AA Change: E1619G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091988
Gene: ENSMUSG00000038241
AA Change: E1619G

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: E1640G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105248
Gene: ENSMUSG00000038241
AA Change: E1640G

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

0.0894

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (125/129)

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: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,337 (GRCm39)	S749T	unknown	Het
Abcb4	A	T	5: 8,990,968 (GRCm39)	I843F	probably damaging	Het
Abcb6	A	T	1: 75,149,323 (GRCm39)		probably benign	Het
AC238840.1	A	T	7: 38,467,377 (GRCm39)		noncoding transcript	Het
Actr8	T	A	14: 29,708,926 (GRCm39)	H244Q	possibly damaging	Het
Acyp2	A	G	11: 30,456,452 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,530,417 (GRCm39)	Y5886H	probably benign	Het
Afap1	C	T	5: 36,119,081 (GRCm39)		probably benign	Het
Agk	T	A	6: 40,363,751 (GRCm39)	W244R	probably damaging	Het
Akirin1	T	A	4: 123,631,883 (GRCm39)		probably benign	Het
Ankrd11	C	A	8: 123,626,463 (GRCm39)	V161L	probably damaging	Het
Arap3	T	C	18: 38,122,249 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,785,968 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,243,547 (GRCm39)	M88V	probably benign	Het
Atp13a5	G	T	16: 29,167,833 (GRCm39)	P109T	probably benign	Het
Avpr1b	T	A	1: 131,528,323 (GRCm39)	V282D	probably damaging	Het
Baz2b	T	C	2: 59,808,890 (GRCm39)	K120E	possibly damaging	Het
Bltp1	T	C	3: 37,052,480 (GRCm39)	M3060T	probably benign	Het
Cacna1a	T	A	8: 85,241,579 (GRCm39)		probably benign	Het
Cacng6	G	A	7: 3,473,404 (GRCm39)	C76Y	probably damaging	Het
Cactin	G	T	10: 81,158,985 (GRCm39)	E279*	probably null	Het
Car9	A	G	4: 43,510,222 (GRCm39)	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,524,564 (GRCm39)	I263F	probably damaging	Het
Cdc16	A	T	8: 13,808,992 (GRCm39)		probably benign	Het
Cdh16	T	G	8: 105,345,003 (GRCm39)	S429R	probably benign	Het
Ces1d	A	T	8: 93,921,649 (GRCm39)	V38D	possibly damaging	Het
Chd1	A	T	17: 15,946,545 (GRCm39)	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,332,332 (GRCm39)	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,719,179 (GRCm39)	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,187,249 (GRCm39)	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,636,753 (GRCm39)	H245Y	probably benign	Het
Coq8b	A	T	7: 26,951,734 (GRCm39)	T399S	probably benign	Het
Cpn2	A	G	16: 30,079,003 (GRCm39)	S233P	probably benign	Het
Cryz	G	A	3: 154,312,113 (GRCm39)	G70D	probably damaging	Het
Csmd1	G	T	8: 16,207,218 (GRCm39)		probably benign	Het
Def6	T	A	17: 28,444,956 (GRCm39)	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,966,251 (GRCm39)	C2480*	probably null	Het
Dnah9	T	C	11: 65,818,648 (GRCm39)	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,893,337 (GRCm39)	S15*	probably null	Het
Erc1	T	C	6: 119,671,563 (GRCm39)	R917G	probably damaging	Het
Fgd2	T	A	17: 29,593,082 (GRCm39)		probably benign	Het
Frem3	G	T	8: 81,337,820 (GRCm39)	V38L	probably benign	Het
Gas2l3	T	C	10: 89,249,796 (GRCm39)	I441V	probably benign	Het
Gm14393	T	A	2: 174,905,774 (GRCm39)	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,969,417 (GRCm39)	K256E	possibly damaging	Het
Gm21905	G	T	5: 68,103,740 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,656 (GRCm39)		probably null	Het
Hmces	C	A	6: 87,913,121 (GRCm39)	T292K	probably benign	Het
Hpse2	G	A	19: 43,376,692 (GRCm39)	S20L	probably benign	Het
Ift70b	G	T	2: 75,768,155 (GRCm39)	S199R	probably benign	Het
Ikbke	A	T	1: 131,204,224 (GRCm39)	V23E	probably null	Het
Ino80	A	T	2: 119,210,130 (GRCm39)	V1387E	probably damaging	Het
Islr	G	T	9: 58,064,589 (GRCm39)	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,258,182 (GRCm39)	G276D	probably damaging	Het
Jchain	A	G	5: 88,673,979 (GRCm39)	V55A	probably benign	Het
Kalrn	T	C	16: 34,007,841 (GRCm39)	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,841,156 (GRCm39)	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,585,334 (GRCm39)	L23P	probably damaging	Het
Lrba	C	T	3: 86,644,449 (GRCm39)	H381Y	probably damaging	Het
Lrch3	T	C	16: 32,808,865 (GRCm39)		probably benign	Het
Lrrc32	T	C	7: 98,148,564 (GRCm39)	V448A	probably benign	Het
Mapkbp1	T	C	2: 119,848,301 (GRCm39)	M617T	probably damaging	Het
Megf6	C	T	4: 154,336,876 (GRCm39)		probably benign	Het
Mfap1a	T	C	2: 121,333,282 (GRCm39)	M50V	probably benign	Het
Mgam	G	T	6: 40,736,062 (GRCm39)	A854S	probably damaging	Het
Myh3	A	C	11: 66,988,885 (GRCm39)		probably benign	Het
Myo18b	C	A	5: 112,840,899 (GRCm39)	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,457,765 (GRCm39)	M92K	probably damaging	Het
Nfkbib	T	C	7: 28,461,447 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,303,950 (GRCm39)	T192S	probably benign	Het
Nr2f1	A	T	13: 78,346,284 (GRCm39)	Y137N	possibly damaging	Het
Nup98	T	A	7: 101,796,513 (GRCm39)	D841V	probably damaging	Het
Nvl	A	G	1: 180,966,827 (GRCm39)	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,068,745 (GRCm39)	N948K	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or12j3	A	G	7: 139,953,026 (GRCm39)	S166P	probably benign	Het
Or13a24	A	G	7: 140,154,662 (GRCm39)	T199A	probably benign	Het
Or51g1	A	C	7: 102,633,530 (GRCm39)	Y280*	probably null	Het
Orc2	A	C	1: 58,520,317 (GRCm39)		probably benign	Het
Osgin1	G	A	8: 120,171,704 (GRCm39)	R166H	probably damaging	Het
Palb2	A	T	7: 121,706,746 (GRCm39)	F741I	probably benign	Het
Palb2	G	T	7: 121,706,747 (GRCm39)	Y740*	probably null	Het
Parvb	G	A	15: 84,155,453 (GRCm39)	G46D	probably damaging	Het
Parvb	G	A	15: 84,155,509 (GRCm39)	D65N	probably benign	Het
Pcsk2	A	T	2: 143,388,438 (GRCm39)	K10*	probably null	Het
Pde3a	C	T	6: 141,411,932 (GRCm39)	A502V	probably benign	Het
Pfas	T	C	11: 68,882,185 (GRCm39)	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,716,471 (GRCm39)	D663E	probably damaging	Het
Prickle2	G	A	6: 92,435,583 (GRCm39)	P6L	probably damaging	Het
Prx	T	A	7: 27,217,026 (GRCm39)	M648K	probably benign	Het
Ptpn21	T	C	12: 98,654,735 (GRCm39)	N744S	probably benign	Het
Ptprq	C	T	10: 107,554,435 (GRCm39)	V97M	probably damaging	Het
Pvr	T	C	7: 19,652,549 (GRCm39)	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,537,656 (GRCm39)	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091 (GRCm39)		probably null	Het
Rorc	T	A	3: 94,304,609 (GRCm39)	Y331*	probably null	Het
Rpl37	T	C	15: 5,148,096 (GRCm39)	V91A	probably benign	Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr3	T	A	2: 112,483,352 (GRCm39)	M4142L	probably benign	Het
Sash1	A	T	10: 8,665,357 (GRCm39)	L125H	probably damaging	Het
Scn5a	T	C	9: 119,365,541 (GRCm39)	M369V	possibly damaging	Het
Siglec1	A	T	2: 130,912,307 (GRCm39)	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,049,992 (GRCm39)	V141E	probably benign	Het
Slc43a1	T	C	2: 84,690,020 (GRCm39)		probably benign	Het
Slc8a3	A	T	12: 81,246,484 (GRCm39)	H856Q	probably benign	Het
Spmip11	T	C	15: 98,483,142 (GRCm39)		probably benign	Het
Sptlc2	T	A	12: 87,402,414 (GRCm39)	M171L	probably benign	Het
Srcap	T	A	7: 127,158,899 (GRCm39)		probably benign	Het
St6gal2	A	G	17: 55,797,944 (GRCm39)	D310G	probably damaging	Het
Susd2	T	A	10: 75,473,888 (GRCm39)	D689V	probably damaging	Het
Suz12	A	T	11: 79,910,558 (GRCm39)	E303V	possibly damaging	Het
Taldo1	C	A	7: 140,978,500 (GRCm39)	T150K	probably damaging	Het
Tex14	T	C	11: 87,440,355 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,721,312 (GRCm39)	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,856,663 (GRCm39)	D259G	probably damaging	Het
Tmem179	G	T	12: 112,468,288 (GRCm39)	H64Q	probably benign	Het
Tmem236	A	G	2: 14,223,732 (GRCm39)	T174A	probably benign	Het
Tmtc1	T	A	6: 148,207,483 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,884,811 (GRCm39)	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,752,773 (GRCm39)	N261S	probably damaging	Het
Traf6	G	T	2: 101,526,994 (GRCm39)		probably benign	Het
Trank1	C	A	9: 111,172,300 (GRCm39)	F96L	possibly damaging	Het
Trim56	T	A	5: 137,142,017 (GRCm39)	I500F	probably damaging	Het
Ttll5	A	G	12: 85,926,168 (GRCm39)	I321V	possibly damaging	Het
Ttn	C	A	2: 76,608,367 (GRCm39)	W17852L	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Uba52	A	G	8: 70,962,206 (GRCm39)	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,148,537 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,215,877 (GRCm39)	M130K	probably benign	Het
Ulk4	T	A	9: 120,910,722 (GRCm39)	T1101S	probably benign	Het
Urb1	A	G	16: 90,548,902 (GRCm39)	S2269P	probably benign	Het
Ush2a	G	T	1: 188,132,403 (GRCm39)	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471 (GRCm39)	H1624L	probably benign	Homo
Vipr1	T	C	9: 121,494,586 (GRCm39)	L308S	possibly damaging	Het
Vps50	G	A	6: 3,517,777 (GRCm39)		probably benign	Het
Xdh	T	G	17: 74,198,107 (GRCm39)	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,800,963 (GRCm39)	I94V	probably benign	Het
Zfhx4	A	G	3: 5,478,206 (GRCm39)	*3582W	probably null	Het
Zfp58	T	C	13: 67,640,144 (GRCm39)	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,402,819 (GRCm39)	R643L	probably benign	Het
Znfx1	A	G	2: 166,884,507 (GRCm39)	V51A	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAACTGGAGGAAAGCCATCAC -3'
(R):5'- CTTCTCCTTATCACGCAGGATCAGC -3'

Sequencing Primer
(F):5'- GCCATCACAAAGTGGAGAGC -3'
(R):5'- AGGATCAGCTTCAAGTGCTC -3'

Posted On

2014-05-23