Mutagenetix > Incidental Mutation

Incidental Mutation 'R4097:Cenpp'

317185

Institutional Source

Beutler Lab

Gene Symbol

Cenpp

Ensembl Gene

ENSMUSG00000021391

Gene Name

centromere protein P

Synonyms

1700022C02Rik, 4921518G09Rik

MMRRC Submission

040984-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R4097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49617499-49806261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49647265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 47 (N47I)

Ref Sequence

ENSEMBL: ENSMUSP00000152773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000222404]

AlphaFold

Q9CZ92

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178840

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222404
AA Change: N47I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.1%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,348,228 (GRCm39)	F292L	probably damaging	Het
Ankrd36	A	G	11: 5,578,703 (GRCm39)	D664G	possibly damaging	Het
Bbs1	T	A	19: 4,947,345 (GRCm39)	Y358F	probably damaging	Het
Becn1	C	T	11: 101,185,092 (GRCm39)		probably benign	Het
Clec4n	A	T	6: 123,207,700 (GRCm39)	H55L	possibly damaging	Het
Cntnap4	A	G	8: 113,478,939 (GRCm39)	I222V	probably benign	Het
Cttnbp2	T	C	6: 18,420,871 (GRCm39)	E370G	probably benign	Het
Cyp4a10	T	A	4: 115,386,480 (GRCm39)	V413E	probably damaging	Het
Dctn2	C	T	10: 127,113,362 (GRCm39)	L249F	probably damaging	Het
Dnah9	T	C	11: 65,881,285 (GRCm39)	S146G	probably damaging	Het
Dzip3	A	T	16: 48,778,852 (GRCm39)	L315*	probably null	Het
Evpl	T	C	11: 116,114,003 (GRCm39)	E1229G	possibly damaging	Het
Ice2	T	C	9: 69,328,953 (GRCm39)	V775A	possibly damaging	Het
Jmjd1c	A	G	10: 67,054,787 (GRCm39)	E69G	probably benign	Het
Lrrc66	T	A	5: 73,765,047 (GRCm39)	R665S	possibly damaging	Het
Mpdz	T	A	4: 81,253,937 (GRCm39)	H1065L	probably damaging	Het
Nrf1	C	T	6: 30,151,671 (GRCm39)	Q503*	probably null	Het
Nt5dc3	G	A	10: 86,669,820 (GRCm39)	A472T	probably benign	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Pramel6	T	G	2: 87,339,697 (GRCm39)	F154V	probably benign	Het
Ralb	T	C	1: 119,411,228 (GRCm39)	D37G	probably benign	Het
Ranbp9	A	T	13: 43,574,733 (GRCm39)	Y412N	probably damaging	Het
Scg2	T	A	1: 79,413,538 (GRCm39)	D395V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpine3	T	A	14: 62,908,395 (GRCm39)	L141Q	probably damaging	Het
Sgpl1	C	T	10: 60,939,017 (GRCm39)	G394D	probably damaging	Het
Sh3pxd2a	T	C	19: 47,412,951 (GRCm39)	Y44C	probably damaging	Het
Slc6a20b	A	G	9: 123,441,822 (GRCm39)		probably benign	Het
Snapc5	T	C	9: 64,087,809 (GRCm39)	I40T	probably damaging	Het
Spopl	T	C	2: 23,401,413 (GRCm39)	H365R	probably benign	Het
Stil	T	A	4: 114,880,797 (GRCm39)	I447N	probably benign	Het
Taf3	C	A	2: 9,957,178 (GRCm39)	V330F	possibly damaging	Het
Tgoln1	T	C	6: 72,592,784 (GRCm39)	E232G	probably damaging	Het
Thrap3	A	G	4: 126,065,595 (GRCm39)	L729P	probably damaging	Het
Tmem269	A	T	4: 119,062,977 (GRCm39)	F220Y	probably damaging	Het
Tnrc18	ATCTTCC	A	5: 142,759,561 (GRCm39)		probably benign	Het
Ubxn6	T	C	17: 56,376,712 (GRCm39)	T227A	probably benign	Het
Wdr17	C	A	8: 55,088,504 (GRCm39)	R1182I	probably damaging	Het
Wdr26	T	C	1: 181,010,352 (GRCm39)	I550V	probably benign	Het
Wdr43	A	G	17: 71,964,532 (GRCm39)	N637S	probably benign	Het
Zfp516	A	G	18: 83,005,381 (GRCm39)	T762A	possibly damaging	Het

Other mutations in Cenpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Cenpp	APN	13	49,801,132 (GRCm39)	critical splice acceptor site	probably null
IGL01323:Cenpp	APN	13	49,801,118 (GRCm39)	missense	probably damaging	1.00
IGL01397:Cenpp	APN	13	49,794,759 (GRCm39)	missense	probably damaging	1.00
IGL01553:Cenpp	APN	13	49,618,252 (GRCm39)	missense	probably damaging	0.99
IGL02489:Cenpp	APN	13	49,803,594 (GRCm39)	splice site	probably null
IGL03024:Cenpp	APN	13	49,617,730 (GRCm39)	missense	probably benign	0.16
R0218:Cenpp	UTSW	13	49,801,108 (GRCm39)	missense	possibly damaging	0.57
R0660:Cenpp	UTSW	13	49,618,173 (GRCm39)	missense	probably benign	0.00
R1868:Cenpp	UTSW	13	49,794,759 (GRCm39)	missense	probably damaging	1.00
R4377:Cenpp	UTSW	13	49,647,907 (GRCm39)	utr 3 prime	probably benign
R4595:Cenpp	UTSW	13	49,794,710 (GRCm39)	missense	probably benign	0.09
R5173:Cenpp	UTSW	13	49,618,258 (GRCm39)	frame shift	probably null
R5174:Cenpp	UTSW	13	49,618,258 (GRCm39)	frame shift	probably null
R5953:Cenpp	UTSW	13	49,806,161 (GRCm39)	missense	probably damaging	0.99
R7054:Cenpp	UTSW	13	49,619,233 (GRCm39)	missense	probably damaging	0.97
R8452:Cenpp	UTSW	13	49,683,887 (GRCm39)	splice site	probably null
R9602:Cenpp	UTSW	13	49,801,049 (GRCm39)	missense	probably damaging	1.00
RF023:Cenpp	UTSW	13	49,803,620 (GRCm39)	missense	probably benign	0.00
Z1088:Cenpp	UTSW	13	49,801,134 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGTGACAAGGATCAGGC -3'
(R):5'- AACACACTGATGCTGGCTGG -3'

Sequencing Primer
(F):5'- AGGCAAGTACCTGATTCTGC -3'
(R):5'- GATCGAGGGCCAGATCATCAC -3'

Posted On

2015-05-15