Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03024:Cenpp'

408095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenpp

Ensembl Gene

ENSMUSG00000021391

Gene Name

centromere protein P

Synonyms

1700022C02Rik, 4921518G09Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

IGL03024

Quality Score

Status

Chromosome

Chromosomal Location

49617499-49806261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49617730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 273 (A273S)

Ref Sequence

ENSEMBL: ENSMUSP00000021818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021817] [ENSMUST00000021818] [ENSMUST00000220447] [ENSMUST00000220856]

AlphaFold

Q9CZ92

Predicted Effect

probably benign
Transcript: ENSMUST00000021817

SMART Domains

Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385

Domain	Start	End	E-Value	Type
Pfam:Ins_P5_2-kin	13	455	1.9e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021818
AA Change: A273S

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
AA Change: A273S

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

probably benign
Transcript: ENSMUST00000220447

Predicted Effect

probably benign
Transcript: ENSMUST00000220856

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,212,464 (GRCm39)	F257L	probably benign	Het
Aaas	A	G	15: 102,258,926 (GRCm39)		probably benign	Het
AI661453	C	T	17: 47,757,513 (GRCm39)	R57W	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Bahd1	T	C	2: 118,746,597 (GRCm39)	V72A	probably damaging	Het
Bcl3	A	G	7: 19,543,059 (GRCm39)		probably benign	Het
Blnk	A	T	19: 40,982,445 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,621,089 (GRCm39)	I230T	probably benign	Het
Cdc20b	A	T	13: 113,227,576 (GRCm39)	R485S	possibly damaging	Het
Cep295	A	G	9: 15,236,868 (GRCm39)	V2022A	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cfap61	C	A	2: 145,781,919 (GRCm39)		probably benign	Het
Col8a1	T	A	16: 57,448,727 (GRCm39)	H261L	unknown	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
D930020B18Rik	T	C	10: 121,521,527 (GRCm39)		probably benign	Het
Dhdds	A	T	4: 133,710,160 (GRCm39)	L203Q	probably damaging	Het
Dusp6	A	G	10: 99,102,156 (GRCm39)	T381A	probably damaging	Het
Elp1	A	G	4: 56,774,686 (GRCm39)		probably null	Het
Fnbp4	A	G	2: 90,581,523 (GRCm39)	D192G	probably benign	Het
Gbp2	G	T	3: 142,337,780 (GRCm39)	V299F	probably damaging	Het
Gfpt1	G	T	6: 87,030,813 (GRCm39)	V66F	probably damaging	Het
Heatr1	T	C	13: 12,422,390 (GRCm39)		probably benign	Het
Irf8	T	A	8: 121,480,097 (GRCm39)	S112T	probably damaging	Het
Jmy	G	T	13: 93,635,707 (GRCm39)	N36K	probably damaging	Het
Kcnt2	T	C	1: 140,498,193 (GRCm39)	I866T	probably benign	Het
Kif1c	A	T	11: 70,596,015 (GRCm39)	M210L	probably damaging	Het
Kng1	G	A	16: 22,893,442 (GRCm39)	V272I	possibly damaging	Het
Lrig2	A	C	3: 104,401,389 (GRCm39)	M166R	probably damaging	Het
Mastl	A	G	2: 23,029,931 (GRCm39)	L265P	probably damaging	Het
Mmp27	A	G	9: 7,581,377 (GRCm39)	T547A	probably benign	Het
Myh4	T	C	11: 67,139,305 (GRCm39)	C541R	probably damaging	Het
Naip2	A	T	13: 100,325,862 (GRCm39)	F15L	possibly damaging	Het
Nipal1	G	T	5: 72,820,968 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,810,893 (GRCm39)	N645Y	probably damaging	Het
Or1j19	T	A	2: 36,676,858 (GRCm39)	F107Y	possibly damaging	Het
Or4g17	T	A	2: 111,209,935 (GRCm39)	F197I	possibly damaging	Het
Or7d9	T	A	9: 20,197,280 (GRCm39)	M103K	probably benign	Het
Plcl1	T	A	1: 55,734,946 (GRCm39)	S96T	probably damaging	Het
Prl2c1	A	C	13: 28,040,524 (GRCm39)	D139A	probably benign	Het
Prmt5	A	T	14: 54,754,055 (GRCm39)	M43K	possibly damaging	Het
Ptpn21	T	A	12: 98,646,315 (GRCm39)	M1048L	probably benign	Het
Ptprq	T	C	10: 107,521,427 (GRCm39)	E653G	possibly damaging	Het
Rbm6	A	G	9: 107,664,567 (GRCm39)	S689P	probably damaging	Het
Rtn3	A	G	19: 7,460,455 (GRCm39)		probably benign	Het
Shoc2	T	C	19: 53,991,458 (GRCm39)	I241T	probably benign	Het
Sipa1	A	T	19: 5,706,189 (GRCm39)	D380E	probably damaging	Het
Slc1a6	T	C	10: 78,650,442 (GRCm39)	V560A	probably benign	Het
Speer2	T	C	16: 69,655,003 (GRCm39)	H154R	possibly damaging	Het
Tlk1	A	T	2: 70,576,380 (GRCm39)	C247*	probably null	Het
Trim15	A	G	17: 37,177,785 (GRCm39)	L70P	probably damaging	Het
Ttc9b	T	C	7: 27,354,358 (GRCm39)	L148P	probably damaging	Het
Vwa8	C	T	14: 79,232,538 (GRCm39)	P627S	probably benign	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
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
R4097:Cenpp	UTSW	13	49,647,265 (GRCm39)	missense	possibly damaging	0.88
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

Posted On

2016-08-02