Mutagenetix > Incidental Mutation

Incidental Mutation 'R9539:Cep290'

719815

Institutional Source

Beutler Lab

Gene Symbol

Cep290

Ensembl Gene

ENSMUSG00000019971

Gene Name

centrosomal protein 290

Synonyms

Kiaa, Nphp6, b2b1752Clo, b2b1454Clo

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R9539 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100323410-100409527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100404713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 2358 (E2358D)

Ref Sequence

ENSEMBL: ENSMUSP00000130899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000164751] [ENSMUST00000219765] [ENSMUST00000220346]

AlphaFold

Q6A078

Predicted Effect

probably benign
Transcript: ENSMUST00000054471

Predicted Effect

probably damaging
Transcript: ENSMUST00000164751
AA Change: E2358D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: E2358D

Domain	Start	End	E-Value	Type
coiled coil region	59	298	N/A	INTRINSIC
coiled coil region	319	566	N/A	INTRINSIC
coiled coil region	598	662	N/A	INTRINSIC
coiled coil region	697	754	N/A	INTRINSIC
coiled coil region	780	875	N/A	INTRINSIC
internal_repeat_2	884	894	1.1e-5	PROSPERO
coiled coil region	986	1028	N/A	INTRINSIC
internal_repeat_2	1057	1067	1.1e-5	PROSPERO
coiled coil region	1071	1109	N/A	INTRINSIC
low complexity region	1140	1156	N/A	INTRINSIC
internal_repeat_1	1176	1206	8.72e-8	PROSPERO
coiled coil region	1221	1250	N/A	INTRINSIC
Pfam:CEP209_CC5	1290	1417	3.8e-55	PFAM
low complexity region	1476	1493	N/A	INTRINSIC
internal_repeat_1	1498	1525	8.72e-8	PROSPERO
coiled coil region	1535	1595	N/A	INTRINSIC
coiled coil region	1624	1716	N/A	INTRINSIC
coiled coil region	1776	2328	N/A	INTRINSIC
low complexity region	2333	2347	N/A	INTRINSIC
coiled coil region	2377	2453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218328

Predicted Effect

probably damaging
Transcript: ENSMUST00000219765
AA Change: E2351D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220346
AA Change: E2358D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	G	A	8: 41,827,584 (GRCm39)	A13V	probably benign	Het
Bdh1	A	G	16: 31,273,914 (GRCm39)	T160A	probably benign	Het
Ccdc115	C	T	1: 34,477,930 (GRCm39)		probably null	Het
Ccdc162	T	A	10: 41,463,407 (GRCm39)	E1445V	possibly damaging	Het
Ccdc88c	T	C	12: 100,901,993 (GRCm39)	E1215G	possibly damaging	Het
Cog6	A	G	3: 52,914,722 (GRCm39)	S245P	probably benign	Het
Copb2	A	T	9: 98,467,983 (GRCm39)		probably null	Het
Crtc1	T	A	8: 70,892,115 (GRCm39)	M32L	probably benign	Het
Dagla	A	C	19: 10,228,429 (GRCm39)		probably null	Het
Dph5	C	A	3: 115,722,305 (GRCm39)	P261Q	probably damaging	Het
Gpr137c	T	C	14: 45,516,187 (GRCm39)	V307A	probably damaging	Het
Herpud2	A	G	9: 25,041,936 (GRCm39)	Y79H	probably damaging	Het
Ighg2b	C	T	12: 113,270,498 (GRCm39)	V211I		Het
Meioc	C	T	11: 102,565,506 (GRCm39)	T318M	probably damaging	Het
Mterf4	T	C	1: 93,229,188 (GRCm39)	Y275C	unknown	Het
Mtfr1	T	C	3: 19,271,422 (GRCm39)	V198A	probably benign	Het
Ogfrl1	T	A	1: 23,415,322 (GRCm39)	I138F	probably damaging	Het
Pacc1	C	T	1: 191,077,174 (GRCm39)	Q166*	probably null	Het
Pf4	T	A	5: 90,920,891 (GRCm39)	V73D	possibly damaging	Het
Phldb1	T	C	9: 44,627,482 (GRCm39)	E321G	probably damaging	Het
Plch1	T	C	3: 63,691,427 (GRCm39)	S59G	probably null	Het
Pmfbp1	A	G	8: 110,240,537 (GRCm39)	I206M	probably damaging	Het
Ppp1r15a	A	G	7: 45,174,658 (GRCm39)	V50A	probably damaging	Het
Ptprs	T	C	17: 56,725,715 (GRCm39)	H1496R	probably benign	Het
Sardh	T	A	2: 27,134,298 (GRCm39)	I73F	probably damaging	Het
Serpind1	G	A	16: 17,157,638 (GRCm39)	W278*	probably null	Het
Slit3	C	T	11: 35,589,155 (GRCm39)	Q1237*	probably null	Het
Smg1	T	C	7: 117,744,976 (GRCm39)	I3059V	probably benign	Het
Spart	T	A	3: 55,034,924 (GRCm39)	W437R	probably damaging	Het
Spata6	C	G	4: 111,685,526 (GRCm39)	A477G	possibly damaging	Het
Suox	A	G	10: 128,507,383 (GRCm39)	F215S	probably damaging	Het
Tcaf1	T	C	6: 42,655,683 (GRCm39)	N431S	probably benign	Het
Tgfbr3l	G	A	8: 4,299,679 (GRCm39)	R154H	probably damaging	Het
Tll1	T	C	8: 64,494,457 (GRCm39)	K766R	probably damaging	Het
Tmem63b	T	A	17: 45,984,105 (GRCm39)	K255*	probably null	Het
Tmem67	A	T	4: 12,045,814 (GRCm39)	L881H	probably damaging	Het
Tmem67	G	T	4: 12,045,815 (GRCm39)	L881I	probably damaging	Het
Tnrc6b	A	G	15: 80,760,544 (GRCm39)	S84G	probably damaging	Het
Traf7	C	T	17: 24,729,333 (GRCm39)	V465M	probably damaging	Het
Ttn	C	T	2: 76,618,568 (GRCm39)	V16239I	probably damaging	Het
Unc80	T	C	1: 66,609,163 (GRCm39)		probably null	Het
Zc3h11a	T	C	1: 133,554,927 (GRCm39)	E351G	probably benign	Het
Zfp942	T	A	17: 22,148,014 (GRCm39)	H205L	probably damaging	Het

Other mutations in Cep290

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Cep290	APN	10	100,344,586 (GRCm39)	missense	probably benign	0.00
IGL00499:Cep290	APN	10	100,379,189 (GRCm39)	missense	probably damaging	1.00
IGL00547:Cep290	APN	10	100,346,570 (GRCm39)	missense	probably damaging	0.99
IGL00573:Cep290	APN	10	100,376,223 (GRCm39)	missense	probably damaging	1.00
IGL00646:Cep290	APN	10	100,337,016 (GRCm39)	missense	probably benign	0.15
IGL00755:Cep290	APN	10	100,366,966 (GRCm39)	missense	probably damaging	1.00
IGL00835:Cep290	APN	10	100,399,242 (GRCm39)	nonsense	probably null
IGL00846:Cep290	APN	10	100,376,195 (GRCm39)	splice site	probably benign
IGL00985:Cep290	APN	10	100,403,023 (GRCm39)	splice site	probably benign
IGL01687:Cep290	APN	10	100,336,067 (GRCm39)	missense	probably damaging	1.00
IGL01782:Cep290	APN	10	100,380,987 (GRCm39)	nonsense	probably null
IGL02010:Cep290	APN	10	100,397,207 (GRCm39)	missense	probably benign	0.00
IGL02010:Cep290	APN	10	100,344,569 (GRCm39)	missense	probably benign	0.39
IGL02036:Cep290	APN	10	100,393,962 (GRCm39)	nonsense	probably null
IGL02039:Cep290	APN	10	100,350,464 (GRCm39)	critical splice donor site	probably null
IGL02532:Cep290	APN	10	100,380,927 (GRCm39)	missense	probably benign	0.04
IGL02950:Cep290	APN	10	100,376,191 (GRCm39)	splice site	probably benign
IGL03105:Cep290	APN	10	100,387,686 (GRCm39)	missense	possibly damaging	0.66
IGL03179:Cep290	APN	10	100,403,950 (GRCm39)	missense	possibly damaging	0.60
IGL03271:Cep290	APN	10	100,373,663 (GRCm39)	missense	probably benign	0.09
IGL03401:Cep290	APN	10	100,336,127 (GRCm39)	missense	probably benign	0.27
PIT4687001:Cep290	UTSW	10	100,373,453 (GRCm39)	missense	probably benign	0.28
R0025:Cep290	UTSW	10	100,373,693 (GRCm39)	missense	probably damaging	1.00
R0127:Cep290	UTSW	10	100,372,787 (GRCm39)	splice site	probably benign
R0254:Cep290	UTSW	10	100,350,436 (GRCm39)	missense	probably benign	0.31
R0295:Cep290	UTSW	10	100,373,683 (GRCm39)	missense	probably damaging	0.99
R0371:Cep290	UTSW	10	100,354,426 (GRCm39)	splice site	probably benign
R0390:Cep290	UTSW	10	100,344,620 (GRCm39)	missense	probably benign	0.09
R0399:Cep290	UTSW	10	100,390,262 (GRCm39)	splice site	probably benign
R0413:Cep290	UTSW	10	100,359,176 (GRCm39)	nonsense	probably null
R0427:Cep290	UTSW	10	100,352,041 (GRCm39)	missense	probably benign	0.01
R0472:Cep290	UTSW	10	100,387,317 (GRCm39)	missense	probably benign	0.19
R0485:Cep290	UTSW	10	100,385,206 (GRCm39)	missense	possibly damaging	0.94
R0635:Cep290	UTSW	10	100,328,538 (GRCm39)	missense	probably damaging	1.00
R0675:Cep290	UTSW	10	100,404,675 (GRCm39)	critical splice acceptor site	probably null
R0972:Cep290	UTSW	10	100,354,624 (GRCm39)	missense	probably benign	0.08
R1238:Cep290	UTSW	10	100,353,725 (GRCm39)	missense	probably damaging	1.00
R1297:Cep290	UTSW	10	100,374,962 (GRCm39)	splice site	probably benign
R1368:Cep290	UTSW	10	100,330,828 (GRCm39)	splice site	probably benign
R1394:Cep290	UTSW	10	100,373,391 (GRCm39)	missense	possibly damaging	0.66
R1437:Cep290	UTSW	10	100,407,963 (GRCm39)	missense	probably benign	0.00
R1493:Cep290	UTSW	10	100,398,043 (GRCm39)	missense	probably benign	0.21
R1496:Cep290	UTSW	10	100,374,828 (GRCm39)	missense	probably damaging	1.00
R1539:Cep290	UTSW	10	100,332,690 (GRCm39)	missense	probably benign	0.06
R1598:Cep290	UTSW	10	100,385,191 (GRCm39)	missense	probably damaging	1.00
R1616:Cep290	UTSW	10	100,404,698 (GRCm39)	missense	probably benign
R1712:Cep290	UTSW	10	100,390,361 (GRCm39)	missense	probably benign	0.02
R1753:Cep290	UTSW	10	100,349,843 (GRCm39)	missense	probably benign
R1773:Cep290	UTSW	10	100,346,435 (GRCm39)	missense	probably benign
R1775:Cep290	UTSW	10	100,332,672 (GRCm39)	missense	probably damaging	0.98
R1799:Cep290	UTSW	10	100,352,058 (GRCm39)	missense	probably benign	0.00
R1937:Cep290	UTSW	10	100,333,815 (GRCm39)	missense	possibly damaging	0.71
R1991:Cep290	UTSW	10	100,367,046 (GRCm39)	missense	possibly damaging	0.80
R2031:Cep290	UTSW	10	100,348,262 (GRCm39)	critical splice donor site	probably null
R2164:Cep290	UTSW	10	100,354,657 (GRCm39)	missense	probably damaging	0.96
R2393:Cep290	UTSW	10	100,397,100 (GRCm39)	critical splice acceptor site	probably null
R2403:Cep290	UTSW	10	100,373,299 (GRCm39)	missense	probably benign	0.19
R3612:Cep290	UTSW	10	100,377,443 (GRCm39)	nonsense	probably null
R3800:Cep290	UTSW	10	100,408,803 (GRCm39)	missense	probably damaging	0.97
R4005:Cep290	UTSW	10	100,374,870 (GRCm39)	missense	probably damaging	1.00
R4039:Cep290	UTSW	10	100,348,263 (GRCm39)	critical splice donor site	probably null
R4259:Cep290	UTSW	10	100,350,354 (GRCm39)	missense	probably damaging	1.00
R4260:Cep290	UTSW	10	100,350,354 (GRCm39)	missense	probably damaging	1.00
R4319:Cep290	UTSW	10	100,374,909 (GRCm39)	missense	probably benign	0.09
R4329:Cep290	UTSW	10	100,373,530 (GRCm39)	missense	probably damaging	0.98
R4573:Cep290	UTSW	10	100,354,712 (GRCm39)	missense	probably benign
R4614:Cep290	UTSW	10	100,395,549 (GRCm39)	missense	possibly damaging	0.93
R4614:Cep290	UTSW	10	100,344,602 (GRCm39)	missense	probably benign
R4708:Cep290	UTSW	10	100,359,126 (GRCm39)	missense	probably benign	0.02
R4727:Cep290	UTSW	10	100,399,132 (GRCm39)	missense	probably benign	0.05
R4825:Cep290	UTSW	10	100,324,210 (GRCm39)	missense	probably damaging	0.96
R4839:Cep290	UTSW	10	100,344,648 (GRCm39)	missense	probably damaging	0.99
R4858:Cep290	UTSW	10	100,330,773 (GRCm39)	missense	probably benign	0.31
R4871:Cep290	UTSW	10	100,384,776 (GRCm39)	missense	probably benign	0.22
R5094:Cep290	UTSW	10	100,402,892 (GRCm39)	missense	probably damaging	0.97
R5103:Cep290	UTSW	10	100,374,882 (GRCm39)	missense	probably damaging	1.00
R5499:Cep290	UTSW	10	100,373,515 (GRCm39)	missense	probably damaging	0.99
R5505:Cep290	UTSW	10	100,335,048 (GRCm39)	critical splice donor site	probably null
R5615:Cep290	UTSW	10	100,367,012 (GRCm39)	missense	probably damaging	1.00
R5815:Cep290	UTSW	10	100,393,970 (GRCm39)	missense	possibly damaging	0.80
R5883:Cep290	UTSW	10	100,359,261 (GRCm39)	missense	probably benign	0.44
R5889:Cep290	UTSW	10	100,334,936 (GRCm39)	missense	possibly damaging	0.95
R5928:Cep290	UTSW	10	100,387,692 (GRCm39)	missense	probably damaging	0.99
R5992:Cep290	UTSW	10	100,379,183 (GRCm39)	missense	possibly damaging	0.73
R6000:Cep290	UTSW	10	100,377,649 (GRCm39)	missense	probably damaging	1.00
R6213:Cep290	UTSW	10	100,359,222 (GRCm39)	missense	probably benign	0.06
R6274:Cep290	UTSW	10	100,366,069 (GRCm39)	missense	probably damaging	1.00
R6285:Cep290	UTSW	10	100,359,191 (GRCm39)	missense	probably benign	0.17
R6306:Cep290	UTSW	10	100,367,028 (GRCm39)	missense	possibly damaging	0.89
R6593:Cep290	UTSW	10	100,344,638 (GRCm39)	missense	probably benign	0.01
R6649:Cep290	UTSW	10	100,354,393 (GRCm39)	missense	probably benign	0.28
R6692:Cep290	UTSW	10	100,405,006 (GRCm39)	splice site	probably null
R6788:Cep290	UTSW	10	100,324,490 (GRCm39)	missense	probably damaging	1.00
R6847:Cep290	UTSW	10	100,399,281 (GRCm39)	missense	probably damaging	1.00
R6947:Cep290	UTSW	10	100,365,918 (GRCm39)	missense	probably damaging	1.00
R7035:Cep290	UTSW	10	100,334,933 (GRCm39)	missense	probably benign	0.07
R7073:Cep290	UTSW	10	100,374,865 (GRCm39)	missense	possibly damaging	0.90
R7114:Cep290	UTSW	10	100,379,220 (GRCm39)	missense	probably damaging	0.98
R7256:Cep290	UTSW	10	100,382,360 (GRCm39)	missense	probably damaging	1.00
R7258:Cep290	UTSW	10	100,334,970 (GRCm39)	missense	probably benign	0.01
R7311:Cep290	UTSW	10	100,373,580 (GRCm39)	missense	probably damaging	0.98
R7505:Cep290	UTSW	10	100,352,127 (GRCm39)	missense	probably benign	0.01
R7615:Cep290	UTSW	10	100,328,543 (GRCm39)	missense	probably benign	0.03
R7643:Cep290	UTSW	10	100,373,415 (GRCm39)	missense	probably benign
R7662:Cep290	UTSW	10	100,373,665 (GRCm39)	missense	probably benign	0.21
R7663:Cep290	UTSW	10	100,390,398 (GRCm39)	critical splice donor site	probably null
R7685:Cep290	UTSW	10	100,375,919 (GRCm39)	missense	probably benign	0.19
R7699:Cep290	UTSW	10	100,376,231 (GRCm39)	missense	probably benign	0.33
R7717:Cep290	UTSW	10	100,328,543 (GRCm39)	missense	probably benign	0.03
R7747:Cep290	UTSW	10	100,394,038 (GRCm39)	nonsense	probably null
R7757:Cep290	UTSW	10	100,399,296 (GRCm39)	missense	probably benign
R7843:Cep290	UTSW	10	100,352,050 (GRCm39)	missense	possibly damaging	0.49
R7905:Cep290	UTSW	10	100,390,352 (GRCm39)	missense	probably benign
R8078:Cep290	UTSW	10	100,408,749 (GRCm39)	missense	probably benign	0.04
R8081:Cep290	UTSW	10	100,394,038 (GRCm39)	nonsense	probably null
R8094:Cep290	UTSW	10	100,380,793 (GRCm39)	missense	possibly damaging	0.95
R8266:Cep290	UTSW	10	100,395,533 (GRCm39)	missense	probably benign	0.08
R8305:Cep290	UTSW	10	100,380,796 (GRCm39)	missense	probably benign	0.09
R8325:Cep290	UTSW	10	100,353,670 (GRCm39)	missense	probably benign	0.03
R8372:Cep290	UTSW	10	100,385,203 (GRCm39)	missense	probably benign	0.00
R8443:Cep290	UTSW	10	100,331,706 (GRCm39)	missense	possibly damaging	0.80
R8497:Cep290	UTSW	10	100,387,320 (GRCm39)	missense	probably damaging	1.00
R8778:Cep290	UTSW	10	100,350,374 (GRCm39)	nonsense	probably null
R8975:Cep290	UTSW	10	100,349,782 (GRCm39)	missense	possibly damaging	0.54
R9146:Cep290	UTSW	10	100,377,665 (GRCm39)	missense	probably benign	0.44
R9264:Cep290	UTSW	10	100,333,878 (GRCm39)	missense	possibly damaging	0.86
R9374:Cep290	UTSW	10	100,372,729 (GRCm39)	missense	probably damaging	0.98
R9448:Cep290	UTSW	10	100,395,546 (GRCm39)	missense	probably benign	0.32
R9499:Cep290	UTSW	10	100,372,729 (GRCm39)	missense	probably damaging	0.98
R9507:Cep290	UTSW	10	100,330,785 (GRCm39)	missense	possibly damaging	0.81
R9547:Cep290	UTSW	10	100,380,841 (GRCm39)	missense	probably benign	0.00
R9551:Cep290	UTSW	10	100,372,729 (GRCm39)	missense	probably damaging	0.98
R9657:Cep290	UTSW	10	100,351,003 (GRCm39)	missense	possibly damaging	0.93
R9731:Cep290	UTSW	10	100,346,404 (GRCm39)	missense	probably damaging	0.98
R9756:Cep290	UTSW	10	100,352,034 (GRCm39)	missense	probably damaging	0.97
R9777:Cep290	UTSW	10	100,354,529 (GRCm39)	missense	probably benign	0.01
Z1176:Cep290	UTSW	10	100,385,236 (GRCm39)	critical splice donor site	probably benign
Z1177:Cep290	UTSW	10	100,374,859 (GRCm39)	missense	possibly damaging	0.89
Z1177:Cep290	UTSW	10	100,333,806 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCAGCATTGAAACCCAGAG -3'
(R):5'- TCTGAATGCTCCTATGGGGTAC -3'

Sequencing Primer
(F):5'- CCACCTCTTCGGGCTATGGTAAC -3'
(R):5'- AATGCTCCTATGGGGTACTTGACAC -3'

Posted On

2022-07-18