Mutagenetix > Incidental Mutation

Incidental Mutation 'R1650:Cenpn'

174189

Institutional Source

Beutler Lab

Gene Symbol

Cenpn

Ensembl Gene

ENSMUSG00000031756

Gene Name

centromere protein N

Synonyms

2610510J17Rik

MMRRC Submission

039686-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1650 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

117648469-117668246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117661498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 199 (D199G)

Ref Sequence

ENSEMBL: ENSMUSP00000034205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034205] [ENSMUST00000212263] [ENSMUST00000212775]

AlphaFold

Q9CZW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034205
AA Change: D199G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
AA Change: D199G

Domain	Start	End	E-Value	Type
Pfam:CENP-N	3	337	3.4e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212184

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212263
AA Change: D112G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000212775

Meta Mutation Damage Score

0.5374

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.0%
20x: 83.4%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	G	2: 103,532,747 (GRCm39)	V515G	probably damaging	Het
Ark2c	A	C	18: 77,550,113 (GRCm39)		probably null	Het
Arl5a	A	T	2: 52,302,117 (GRCm39)	I99N	probably damaging	Het
Atp8b1	A	G	18: 64,704,620 (GRCm39)		probably benign	Het
Bag4	T	A	8: 26,267,452 (GRCm39)	Q126L	probably damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cfhr3	A	G	1: 139,521,564 (GRCm39)		noncoding transcript	Het
Clca3a2	T	A	3: 144,797,973 (GRCm39)	H164L	probably damaging	Het
Col5a1	C	A	2: 27,812,171 (GRCm39)	S84R	unknown	Het
Ctsc	T	A	7: 87,930,634 (GRCm39)	L71*	probably null	Het
Cyp2c70	A	G	19: 40,153,921 (GRCm39)	Y223H	probably benign	Het
Dbt	A	G	3: 116,328,381 (GRCm39)		probably null	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dll4	T	C	2: 119,161,611 (GRCm39)	S398P	probably damaging	Het
Dyrk4	T	C	6: 126,876,792 (GRCm39)	K62E	probably benign	Het
Fgf22	A	T	10: 79,591,023 (GRCm39)	Y24F	probably damaging	Het
Ggt5	A	G	10: 75,440,595 (GRCm39)	R239G	probably benign	Het
Gm11360	C	T	13: 28,140,379 (GRCm39)	A81V	unknown	Het
Htr5b	T	A	1: 121,455,891 (GRCm39)	T10S	probably benign	Het
Igsf10	T	C	3: 59,233,583 (GRCm39)	R1717G	probably damaging	Het
Itsn2	T	A	12: 4,687,767 (GRCm39)	V556D	probably damaging	Het
Kdm3b	T	C	18: 34,942,168 (GRCm39)	V553A	possibly damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lca5l	T	C	16: 95,980,140 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,750,639 (GRCm39)	W171R	probably damaging	Het
Lrp6	T	C	6: 134,445,732 (GRCm39)	Y1027C	probably benign	Het
Macf1	A	T	4: 123,350,393 (GRCm39)	Y1702*	probably null	Het
Mon2	T	C	10: 122,831,682 (GRCm39)	I1675V	probably benign	Het
Mtcl1	T	A	17: 66,692,871 (GRCm39)	K486M	probably damaging	Het
Nek1	A	T	8: 61,489,110 (GRCm39)	H338L	probably benign	Het
Ola1	A	T	2: 72,987,238 (GRCm39)	D131E	possibly damaging	Het
Olr1	T	A	6: 129,484,052 (GRCm39)	M7L	probably benign	Het
Or1f12	T	C	13: 21,721,249 (GRCm39)	N294D	probably damaging	Het
Or4k36	C	T	2: 111,146,640 (GRCm39)	A272V	probably benign	Het
Or5t18	A	T	2: 86,637,091 (GRCm39)	M84K	possibly damaging	Het
Or5w10	C	A	2: 87,375,772 (GRCm39)	V39L	probably benign	Het
Or7g27	T	G	9: 19,249,943 (GRCm39)	F62L	possibly damaging	Het
Or9m2	C	T	2: 87,821,145 (GRCm39)	A230V	probably benign	Het
Pan2	G	A	10: 128,153,768 (GRCm39)	E980K	probably damaging	Het
Pgm1	C	A	4: 99,819,276 (GRCm39)	Q149K	probably benign	Het
Pgm1	A	G	4: 99,819,267 (GRCm39)	K146E	possibly damaging	Het
Phlpp2	T	C	8: 110,660,587 (GRCm39)		probably benign	Het
Plekhs1	G	T	19: 56,459,474 (GRCm39)	G75C	probably damaging	Het
Plin4	G	A	17: 56,411,931 (GRCm39)	T700I	probably damaging	Het
Podxl2	G	A	6: 88,826,901 (GRCm39)	P71L	probably benign	Het
Pot1a	A	T	6: 25,745,964 (GRCm39)	V579D	probably damaging	Het
Poteg	A	G	8: 27,953,813 (GRCm39)	D318G	probably benign	Het
Ppp4r3a	A	T	12: 101,010,878 (GRCm39)	D554E	probably damaging	Het
Proser3	G	A	7: 30,239,751 (GRCm39)	A451V	probably damaging	Het
Shld2	T	A	14: 33,981,574 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,211,366 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,358,300 (GRCm39)	C216F	possibly damaging	Het
Syne2	A	T	12: 75,951,033 (GRCm39)	K395*	probably null	Het
Trim28	G	A	7: 12,764,776 (GRCm39)	G831D	possibly damaging	Het
Tyw1	A	G	5: 130,317,752 (GRCm39)	I434V	possibly damaging	Het
Ubox5	G	A	2: 130,442,345 (GRCm39)	A114V	probably benign	Het
Ubqln3	C	T	7: 103,790,228 (GRCm39)	V621I	possibly damaging	Het
Unc79	A	G	12: 103,079,052 (GRCm39)	D1543G	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Wrnip1	C	A	13: 32,989,362 (GRCm39)	H283Q	probably benign	Het
Zan	A	T	5: 137,392,863 (GRCm39)		probably benign	Het
Zcchc10	A	T	11: 53,218,229 (GRCm39)	K1*	probably null	Het
Zfp592	T	A	7: 80,687,848 (GRCm39)	S925T	probably benign	Het

Other mutations in Cenpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Cenpn	APN	8	117,655,326 (GRCm39)	splice site	probably null
IGL02084:Cenpn	APN	8	117,667,634 (GRCm39)	missense	probably damaging	1.00
R0791:Cenpn	UTSW	8	117,667,559 (GRCm39)	splice site	probably benign
R0843:Cenpn	UTSW	8	117,660,045 (GRCm39)	missense	probably benign	0.09
R1166:Cenpn	UTSW	8	117,652,946 (GRCm39)	missense	probably damaging	1.00
R2132:Cenpn	UTSW	8	117,661,536 (GRCm39)	critical splice donor site	probably null
R4512:Cenpn	UTSW	8	117,660,135 (GRCm39)	missense	probably damaging	1.00
R4513:Cenpn	UTSW	8	117,660,135 (GRCm39)	missense	probably damaging	1.00
R4514:Cenpn	UTSW	8	117,660,135 (GRCm39)	missense	probably damaging	1.00
R4865:Cenpn	UTSW	8	117,661,512 (GRCm39)	missense	probably damaging	1.00
R5969:Cenpn	UTSW	8	117,667,276 (GRCm39)	missense	probably damaging	1.00
R6518:Cenpn	UTSW	8	117,663,904 (GRCm39)	missense	possibly damaging	0.88
R6795:Cenpn	UTSW	8	117,652,887 (GRCm39)	missense	probably benign	0.02
R7143:Cenpn	UTSW	8	117,663,966 (GRCm39)	missense	probably benign	0.00
R7556:Cenpn	UTSW	8	117,664,008 (GRCm39)	missense	probably damaging	1.00
R7961:Cenpn	UTSW	8	117,663,976 (GRCm39)	missense	probably benign	0.00
R8009:Cenpn	UTSW	8	117,663,976 (GRCm39)	missense	probably benign	0.00
R8172:Cenpn	UTSW	8	117,658,333 (GRCm39)	missense	probably benign	0.05
R9034:Cenpn	UTSW	8	117,661,478 (GRCm39)	missense	probably benign	0.22
R9196:Cenpn	UTSW	8	117,658,344 (GRCm39)	missense	probably damaging	1.00
R9199:Cenpn	UTSW	8	117,664,014 (GRCm39)	critical splice donor site	probably null
R9534:Cenpn	UTSW	8	117,661,474 (GRCm39)	nonsense	probably null
R9574:Cenpn	UTSW	8	117,660,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTTCACTGTCAGCAGCAGG -3'
(R):5'- GGTAACGCGGGCCAATATGATCAC -3'

Sequencing Primer
(F):5'- GGAGATAGGGTTACATTTCTTCTCAC -3'
(R):5'- AAGCTTCATCCACTCGCTAGC -3'

Posted On

2014-04-24