Mutagenetix > Incidental Mutation

Incidental Mutation 'R6310:Cep72'

509558

Institutional Source

Beutler Lab

Gene Symbol

Cep72

Ensembl Gene

ENSMUSG00000021572

Gene Name

centrosomal protein 72

Synonyms

2610029E11Rik, 4933440J22Rik

MMRRC Submission

044414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74184619-74210418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74201144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 175 (S175A)

Ref Sequence

ENSEMBL: ENSMUSP00000152641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036456] [ENSMUST00000220483] [ENSMUST00000221122] [ENSMUST00000222609]

AlphaFold

Q9D3R3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036456
AA Change: S182A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: S182A

Domain	Start	End	E-Value	Type
LRR	52	73	2.92e1	SMART
LRR	74	96	5.34e-1	SMART
LRRcap	116	134	1.89e-4	SMART
low complexity region	307	319	N/A	INTRINSIC
low complexity region	378	389	N/A	INTRINSIC
low complexity region	417	428	N/A	INTRINSIC
coiled coil region	485	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220483

Predicted Effect

probably benign
Transcript: ENSMUST00000221122

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222609
AA Change: S175A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000223028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223417

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,373,046 (GRCm39)	G856A	possibly damaging	Het
Adgrb3	T	A	1: 25,150,799 (GRCm39)	M1145L	probably benign	Het
Akap13	A	T	7: 75,398,941 (GRCm39)	H2673L	probably damaging	Het
Bmpr1b	A	G	3: 141,570,297 (GRCm39)	S131P	probably damaging	Het
Chd2	C	T	7: 73,102,912 (GRCm39)	E1358K	probably damaging	Het
Cmip	T	C	8: 118,156,549 (GRCm39)	I308T	possibly damaging	Het
Cps1	A	T	1: 67,182,140 (GRCm39)	N118I	probably benign	Het
Cux1	C	T	5: 136,304,018 (GRCm39)	G1265D	probably benign	Het
Ddx24	C	A	12: 103,390,166 (GRCm39)	R275L	probably damaging	Het
Dhx58	T	C	11: 100,590,193 (GRCm39)	S364G	probably benign	Het
Dis3l	A	C	9: 64,229,857 (GRCm39)	V274G	probably benign	Het
Fryl	A	T	5: 73,349,104 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,268,444 (GRCm39)	H1272R	probably damaging	Het
Gjb3	A	G	4: 127,220,433 (GRCm39)	V33A	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm9964	T	C	11: 79,187,476 (GRCm39)		probably benign	Het
Grk5	T	C	19: 61,069,349 (GRCm39)	I342T	probably damaging	Het
Hnf1b	T	A	11: 83,795,737 (GRCm39)	C527S	probably damaging	Het
Hoxd4	G	T	2: 74,558,734 (GRCm39)	A186S	possibly damaging	Het
Ighv1-78	G	A	12: 115,832,584 (GRCm39)	H54Y	probably benign	Het
Intu	T	A	3: 40,655,721 (GRCm39)	L936*	probably null	Het
Kcp	G	A	6: 29,493,257 (GRCm39)	R89W	probably damaging	Het
Kctd3	T	C	1: 188,704,435 (GRCm39)	T779A	probably benign	Het
Muc16	G	A	9: 18,553,246 (GRCm39)	P4349L	probably benign	Het
Nedd9	T	C	13: 41,471,928 (GRCm39)	T178A	probably benign	Het
Nuak2	G	T	1: 132,257,699 (GRCm39)	A204S	probably damaging	Het
Or51f1	T	A	7: 102,506,412 (GRCm39)	I26F	probably benign	Het
Or6c214	T	C	10: 129,590,528 (GRCm39)	R264G	probably benign	Het
Pcdhac2	C	A	18: 37,278,824 (GRCm39)	Y601*	probably null	Het
Pla2g4a	T	A	1: 149,717,977 (GRCm39)	D624V	possibly damaging	Het
Plxnb1	T	C	9: 108,938,796 (GRCm39)	V1386A	probably damaging	Het
Plxnd1	T	A	6: 115,953,697 (GRCm39)	L623F	possibly damaging	Het
Pms2	T	A	5: 143,860,401 (GRCm39)	S71R	probably benign	Het
Prkg1	T	C	19: 30,546,651 (GRCm39)	D683G	probably damaging	Het
Rasgrp3	T	A	17: 75,801,204 (GRCm39)	Y45N	probably damaging	Het
Rfc4	T	C	16: 22,933,459 (GRCm39)	I233M	probably benign	Het
Sema3a	G	A	5: 13,606,986 (GRCm39)	G274S	probably damaging	Het
Sesn1	T	C	10: 41,772,074 (GRCm39)	L201P	probably damaging	Het
Setx	G	A	2: 29,066,947 (GRCm39)	V2363I	possibly damaging	Het
Sh3glb1	A	G	3: 144,403,228 (GRCm39)	S81P	probably damaging	Het
Sik3	A	G	9: 46,089,784 (GRCm39)	S218G	probably damaging	Het
Slc12a2	C	G	18: 58,048,578 (GRCm39)	F781L	probably damaging	Het
Slc12a6	A	T	2: 112,166,184 (GRCm39)	I188F	probably damaging	Het
Slc34a2	A	G	5: 53,222,139 (GRCm39)		probably null	Het
Slc35f4	A	G	14: 49,559,914 (GRCm39)	C44R	probably damaging	Het
Sytl1	G	A	4: 132,988,309 (GRCm39)	P16S	probably benign	Het
Taok3	C	T	5: 117,394,003 (GRCm39)	T592M	possibly damaging	Het
Tgfb1i1	T	C	7: 127,852,009 (GRCm39)	F303L	probably damaging	Het
Txk	T	C	5: 72,893,760 (GRCm39)	S7G	probably benign	Het
Utp4	T	C	8: 107,645,253 (GRCm39)	V550A	probably benign	Het
Vmn1r229	G	A	17: 21,034,976 (GRCm39)	D74N	probably benign	Het
Zfp638	A	G	6: 83,844,212 (GRCm39)	D25G	possibly damaging	Het
Zfp646	T	C	7: 127,483,079 (GRCm39)	V1752A	probably benign	Het

Other mutations in Cep72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Cep72	APN	13	74,210,387 (GRCm39)	unclassified	probably benign
IGL01373:Cep72	APN	13	74,207,578 (GRCm39)	missense	probably damaging	1.00
IGL02415:Cep72	APN	13	74,198,273 (GRCm39)	missense	probably benign	0.31
IGL03372:Cep72	APN	13	74,191,637 (GRCm39)	missense	possibly damaging	0.47
R0608:Cep72	UTSW	13	74,186,423 (GRCm39)	missense	probably damaging	1.00
R0884:Cep72	UTSW	13	74,203,000 (GRCm39)	critical splice donor site	probably null
R2400:Cep72	UTSW	13	74,197,096 (GRCm39)	missense	probably damaging	0.99
R4906:Cep72	UTSW	13	74,207,584 (GRCm39)	missense	probably damaging	1.00
R5534:Cep72	UTSW	13	74,210,335 (GRCm39)	missense	probably benign	0.05
R5567:Cep72	UTSW	13	74,188,260 (GRCm39)	missense	probably benign	0.00
R5570:Cep72	UTSW	13	74,188,260 (GRCm39)	missense	probably benign	0.00
R5816:Cep72	UTSW	13	74,197,150 (GRCm39)	missense	probably benign	0.43
R6513:Cep72	UTSW	13	74,206,582 (GRCm39)	missense	probably damaging	1.00
R6848:Cep72	UTSW	13	74,186,395 (GRCm39)	missense	possibly damaging	0.85
R6936:Cep72	UTSW	13	74,188,206 (GRCm39)	missense	probably damaging	1.00
R7000:Cep72	UTSW	13	74,206,444 (GRCm39)	missense	probably damaging	0.96
R7006:Cep72	UTSW	13	74,198,427 (GRCm39)	nonsense	probably null
R7074:Cep72	UTSW	13	74,199,699 (GRCm39)	missense	probably benign	0.16
R7640:Cep72	UTSW	13	74,206,607 (GRCm39)	nonsense	probably null
R7889:Cep72	UTSW	13	74,198,241 (GRCm39)	missense	possibly damaging	0.84
R8260:Cep72	UTSW	13	74,206,465 (GRCm39)	missense	probably damaging	1.00
R8751:Cep72	UTSW	13	74,198,303 (GRCm39)	missense	possibly damaging	0.60
R8789:Cep72	UTSW	13	74,186,367 (GRCm39)	missense	possibly damaging	0.83
R9202:Cep72	UTSW	13	74,198,420 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCAGAGTCAAAACTGTAAGCACTC -3'
(R):5'- GTTGGTGGCATCTCAGACATTG -3'

Sequencing Primer
(F):5'- CTCTAAGTATATGCTCAAGCCAGGG -3'
(R):5'- CTCAGACATTGTTATTGGTTGCCAG -3'

Posted On

2018-04-02