Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:Cep72'

544735

Institutional Source

Beutler Lab

Gene Symbol

Cep72

Ensembl Gene

ENSMUSG00000021572

Gene Name

centrosomal protein 72

Synonyms

MMRRC Submission

045011-MU

Accession Numbers

Essential gene?

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

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74036500-74062299 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74050308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 311 (Q311*)

Ref Sequence

ENSEMBL: ENSMUSP00000152641 (fasta)

Gene Model

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

AlphaFold

Q9D3R3

Predicted Effect

probably null
Transcript: ENSMUST00000036456
AA Change: Q318*

SMART Domains

Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: Q318*

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 null
Transcript: ENSMUST00000221122
AA Change: Q47*

Predicted Effect

probably null
Transcript: ENSMUST00000222609
AA Change: Q311*

Predicted Effect

probably benign
Transcript: ENSMUST00000223028

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	G	4: 144,721,283 (GRCm38)	V41A	probably benign	Het
Adcy2	G	A	13: 68,888,020 (GRCm38)	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,740,464 (GRCm38)	I412N	probably benign	Het
AW146154	T	C	7: 41,481,224 (GRCm38)	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,169,831 (GRCm38)	L267P	probably benign	Het
Bod1l	T	C	5: 41,832,552 (GRCm38)	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,281,090 (GRCm38)	T459A	probably benign	Het
Ccdc196	T	A	12: 78,208,928 (GRCm38)	*177R	probably null	Het
Cir1	T	C	2: 73,310,490 (GRCm38)	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,371,115 (GRCm38)		probably null	Het
Crtap	G	T	9: 114,386,323 (GRCm38)	A166E	probably damaging	Het
Dipk1a	A	G	5: 107,910,161 (GRCm38)	V132A	probably benign	Het
Dmp1	A	G	5: 104,212,322 (GRCm38)	D288G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291 (GRCm38)		probably null	Het
Fmnl2	C	A	2: 53,108,254 (GRCm38)	Q544K	probably benign	Het
Gpsm1	T	C	2: 26,322,560 (GRCm38)	L72P	probably damaging	Het
Gys1	G	A	7: 45,440,013 (GRCm38)	A199T	probably damaging	Het
Kcnq3	A	C	15: 66,020,316 (GRCm38)	Y403*	probably null	Het
Kcp	A	C	6: 29,499,170 (GRCm38)	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,735,514 (GRCm38)	S599P	probably damaging	Het
Krt20	A	T	11: 99,437,761 (GRCm38)	Y113N	probably benign	Het
Mcm8	T	G	2: 132,823,261 (GRCm38)	V191G	probably damaging	Het
Msr1	T	A	8: 39,589,382 (GRCm38)	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873 (GRCm38)	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,217,731 (GRCm38)	T1020M	probably benign	Het
Nphp4	A	G	4: 152,488,802 (GRCm38)	T66A	probably benign	Het
Or1o3	T	A	17: 37,262,734 (GRCm38)	*310L	probably null	Het
Or4f14	C	A	2: 111,912,256 (GRCm38)	V225L	probably benign	Het
Or8h10	G	A	2: 86,977,959 (GRCm38)	T279I	probably damaging	Het
Or8k18	T	A	2: 86,255,228 (GRCm38)	Q155L	probably benign	Het
Phf11d	G	T	14: 59,353,374 (GRCm38)	T178K	probably benign	Het
Ppm1d	A	G	11: 85,337,151 (GRCm38)	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,266,233 (GRCm38)	I144K	probably benign	Het
Stoml1	A	G	9: 58,260,240 (GRCm38)	D5G	probably damaging	Het
Styxl2	T	C	1: 166,099,094 (GRCm38)	N983S	probably benign	Het
Tanc1	T	C	2: 59,795,844 (GRCm38)	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,862,904 (GRCm38)	V108A	possibly damaging	Het
Tifab	T	C	13: 56,176,246 (GRCm38)	Y128C	probably benign	Het
Tmc6	G	T	11: 117,774,257 (GRCm38)	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,163 (GRCm38)	A63T	probably damaging	Het
Trgc4	T	A	13: 19,344,825 (GRCm38)		probably benign	Het
Usp16	G	T	16: 87,471,836 (GRCm38)	C284F	probably damaging	Het
Wipf1	T	C	2: 73,437,097 (GRCm38)	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,442,448 (GRCm38)	W347R	probably damaging	Het
Zfp180	G	T	7: 24,105,112 (GRCm38)	E319*	probably null	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
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
R8751:Cep72	UTSW	13	74,050,184 (GRCm38)	missense	possibly damaging	0.60
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'- CTCCAAAGCCTCAGAGTGAG -3'
(R):5'- TCTGTCCATACCCACGTGTG -3'

Sequencing Primer
(F):5'- GAGACAAGGCCACCTGACTCTG -3'
(R):5'- ATACCCACGTGTGTGCTCAC -3'

Posted On

2019-05-13