Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Cep72'

435630

Institutional Source

Beutler Lab

Gene Symbol

Cep72

Ensembl Gene

ENSMUSG00000021572

Gene Name

centrosomal protein 72

Synonyms

2610029E11Rik, 4933440J22Rik

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

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

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74184619-74210418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74188260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 211 (Q211R)

Ref Sequence

ENSEMBL: ENSMUSP00000152484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022057] [ENSMUST00000036456] [ENSMUST00000221122] [ENSMUST00000222609]

AlphaFold

Q9D3R3

Predicted Effect

probably benign
Transcript: ENSMUST00000022057

SMART Domains

Protein: ENSMUSP00000022057
Gene: ENSMUSG00000021573

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
Pfam:p25-alpha	51	212	3.7e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036456
AA Change: Q562R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: Q562R

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: ENSMUST00000221122
AA Change: Q211R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000222609

Predicted Effect

probably benign
Transcript: ENSMUST00000223028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223417

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	probably damaging	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
R5816:Cep72	UTSW	13	74,197,150 (GRCm39)	missense	probably benign	0.43
R6310:Cep72	UTSW	13	74,201,144 (GRCm39)	missense	possibly damaging	0.94
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'- CATGGCAATGCATATAGGTCCTG -3'
(R):5'- GGTAGCAGGAGTGTTAGCTC -3'

Sequencing Primer
(F):5'- GGCAATGCATATAGGTCCTGAACAC -3'
(R):5'- AGCAGGAGTGTTAGCTCTCATAG -3'

Posted On

2016-10-24