Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Cep72'

663868

Institutional Source

Beutler Lab

Gene Symbol

Cep72

Ensembl Gene

ENSMUSG00000021572

Gene Name

centrosomal protein 72

Synonyms

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74036500-74062299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74050184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 359 (S359F)

Ref Sequence

ENSEMBL: ENSMUSP00000037788 (fasta)

Gene Model

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

AlphaFold

Q9D3R3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036456
AA Change: S359F

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: S359F

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

probably benign
Transcript: ENSMUST00000222609

Predicted Effect

probably benign
Transcript: ENSMUST00000223028

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,727 (GRCm38)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,311,628 (GRCm38)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,437,683 (GRCm38)	V468I	possibly damaging	Het
Ahnak	A	C	19: 9,010,145 (GRCm38)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,926,019 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,648,140 (GRCm38)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,165,512 (GRCm38)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,705,319 (GRCm38)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 153,067,775 (GRCm38)	I16F	probably benign	Het
Col1a1	A	G	11: 94,947,274 (GRCm38)	N844S	unknown	Het
Col7a1	C	T	9: 108,967,662 (GRCm38)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 44,004,842 (GRCm38)	K117E	probably benign	Het
Csmd3	A	G	15: 47,982,006 (GRCm38)	C54R		Het
Dlg1	A	G	16: 31,781,830 (GRCm38)	T211A	probably benign	Het
Emc1	C	A	4: 139,369,968 (GRCm38)	H724N	possibly damaging	Het
Epg5	T	A	18: 77,965,010 (GRCm38)	N784K	probably benign	Het
Epg5	A	T	18: 77,965,009 (GRCm38)	N784I	possibly damaging	Het
Epg5	A	C	18: 77,965,008 (GRCm38)	N784H	probably benign	Het
Erc2	A	G	14: 28,080,188 (GRCm38)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,892,112 (GRCm38)	V241A	probably benign	Het
Fat4	A	G	3: 38,891,853 (GRCm38)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,002,062 (GRCm38)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,918,823 (GRCm38)	E276G	probably benign	Het
Frem1	G	A	4: 82,970,778 (GRCm38)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,678,066 (GRCm38)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,081,251 (GRCm38)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,566,678 (GRCm38)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,822,137 (GRCm38)	Y516F	unknown	Het
Hdac5	A	T	11: 102,218,454 (GRCm38)	I38N	probably benign	Het
Hectd4	T	A	5: 121,363,775 (GRCm38)	C4190*	probably null	Het
Helb	A	T	10: 120,089,507 (GRCm38)	D988E	probably benign	Het
Herc6	C	T	6: 57,662,374 (GRCm38)	S909L	probably damaging	Het
Ice1	A	T	13: 70,602,891 (GRCm38)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,406,908 (GRCm38)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,501,656 (GRCm38)	Y350F	probably benign	Het
Lct	T	A	1: 128,293,797 (GRCm38)	T1570S	probably benign	Het
Lias	T	A	5: 65,399,850 (GRCm38)	N203K	probably benign	Het
Lrrtm4	A	G	6: 80,022,109 (GRCm38)	N168S	probably damaging	Het
Ltf	A	T	9: 111,031,124 (GRCm38)	K538*	probably null	Het
Lysmd4	A	G	7: 67,226,039 (GRCm38)	D150G	probably benign	Het
Magi2	A	G	5: 20,534,464 (GRCm38)	D572G	probably benign	Het
Meiob	T	C	17: 24,828,034 (GRCm38)		probably null	Het
Ncor2	T	C	5: 125,038,900 (GRCm38)	Y130C		Het
Ntmt2	T	A	1: 163,717,169 (GRCm38)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,255,596 (GRCm38)	S118P	probably benign	Het
Or10g3	A	G	14: 52,372,963 (GRCm38)	F30S	probably benign	Het
Or2t45	A	G	11: 58,778,387 (GRCm38)	T87A	probably benign	Het
Or8b55	T	A	9: 38,816,039 (GRCm38)	C179S	probably damaging	Het
Parp14	A	T	16: 35,856,811 (GRCm38)	M929K	probably benign	Het
Pcdh8	T	C	14: 79,768,789 (GRCm38)	E778G	probably benign	Het
Pgls	T	C	8: 71,595,194 (GRCm38)	V211A	probably benign	Het
Pkd2	T	A	5: 104,489,285 (GRCm38)	M588K	probably damaging	Het
Pms1	T	C	1: 53,192,110 (GRCm38)	N860S	probably benign	Het
Psg19	C	T	7: 18,796,963 (GRCm38)	V89M	probably benign	Het
Reln	T	C	5: 21,942,674 (GRCm38)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,701,067 (GRCm38)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 105,949,653 (GRCm38)		probably null	Het
Slc25a3	T	C	10: 91,117,098 (GRCm38)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,589,762 (GRCm38)	V125F	probably benign	Het
Slc9a5	T	A	8: 105,359,349 (GRCm38)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,660,052 (GRCm38)	Q691*	probably null	Het
Smg7	T	C	1: 152,843,378 (GRCm38)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,637 (GRCm38)	K132*	probably null	Het
Tap1	A	G	17: 34,193,159 (GRCm38)	K446R	probably benign	Het
Tcam1	A	T	11: 106,285,617 (GRCm38)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,611,908 (GRCm38)	N687D	probably damaging	Het
Trim42	T	C	9: 97,369,799 (GRCm38)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm38)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm38)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,926,467 (GRCm38)	T109A	probably benign	Het
Vmn2r67	C	T	7: 85,152,242 (GRCm38)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 18,823,759 (GRCm38)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,235,846 (GRCm38)	K54E	probably damaging	Het

Other mutations in Cep72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Cep72	APN	13	74,062,268 (GRCm38)	unclassified	probably benign
IGL01373:Cep72	APN	13	74,059,459 (GRCm38)	missense	probably damaging	1.00
IGL02415:Cep72	APN	13	74,050,154 (GRCm38)	missense	probably benign	0.31
IGL03372:Cep72	APN	13	74,043,518 (GRCm38)	missense	possibly damaging	0.47
R0608:Cep72	UTSW	13	74,038,304 (GRCm38)	missense	probably damaging	1.00
R0884:Cep72	UTSW	13	74,054,881 (GRCm38)	critical splice donor site	probably null
R2400:Cep72	UTSW	13	74,048,977 (GRCm38)	missense	probably damaging	0.99
R4906:Cep72	UTSW	13	74,059,465 (GRCm38)	missense	probably damaging	1.00
R5534:Cep72	UTSW	13	74,062,216 (GRCm38)	missense	probably benign	0.05
R5567:Cep72	UTSW	13	74,040,141 (GRCm38)	missense	probably benign	0.00
R5570:Cep72	UTSW	13	74,040,141 (GRCm38)	missense	probably benign	0.00
R5816:Cep72	UTSW	13	74,049,031 (GRCm38)	missense	probably benign	0.43
R6310:Cep72	UTSW	13	74,053,025 (GRCm38)	missense	possibly damaging	0.94
R6513:Cep72	UTSW	13	74,058,463 (GRCm38)	missense	probably damaging	1.00
R6848:Cep72	UTSW	13	74,038,276 (GRCm38)	missense	possibly damaging	0.85
R6936:Cep72	UTSW	13	74,040,087 (GRCm38)	missense	probably damaging	1.00
R7000:Cep72	UTSW	13	74,058,325 (GRCm38)	missense	probably damaging	0.96
R7006:Cep72	UTSW	13	74,050,308 (GRCm38)	nonsense	probably null
R7074:Cep72	UTSW	13	74,051,580 (GRCm38)	missense	probably benign	0.16
R7640:Cep72	UTSW	13	74,058,488 (GRCm38)	nonsense	probably null
R7889:Cep72	UTSW	13	74,050,122 (GRCm38)	missense	possibly damaging	0.84
R8260:Cep72	UTSW	13	74,058,346 (GRCm38)	missense	probably damaging	1.00
R8789:Cep72	UTSW	13	74,038,248 (GRCm38)	missense	possibly damaging	0.83
R9202:Cep72	UTSW	13	74,050,301 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGAATAAGGCAGGTCTCC -3'
(R):5'- GACTCCAGATCCCTGAGAATTC -3'

Sequencing Primer
(F):5'- AGGTCTCCAGCTGCTGAC -3'
(R):5'- TCAGTCTAATAAGGGTTCTGCC -3'

Posted On

2021-03-08