Mutagenetix > Incidental Mutation

Incidental Mutation 'R9034:Cenpn'

687227

Institutional Source

Beutler Lab

Gene Symbol

Cenpn

Ensembl Gene

ENSMUSG00000031756

Gene Name

centromere protein N

Synonyms

2610510J17Rik

MMRRC Submission

068863-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R9034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117648469-117668246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117661478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 192 (D192E)

Ref Sequence

ENSEMBL: ENSMUSP00000034205 (fasta)

Gene Model

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

AlphaFold

Q9CZW2

Predicted Effect

probably benign
Transcript: ENSMUST00000034205
AA Change: D192E

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
AA Change: D192E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212263
AA Change: D105E

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000212775

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

95% (57/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Acvr2a	T	C	2: 48,763,381 (GRCm39)	Y142H	probably damaging	Het
Agfg1	C	T	1: 82,853,913 (GRCm39)	Q188*	probably null	Het
Akap11	C	A	14: 78,748,299 (GRCm39)	V1363F		Het
Aldh3a1	A	G	11: 61,104,475 (GRCm39)	T121A	probably benign	Het
Arid1b	T	A	17: 5,387,180 (GRCm39)	D1491E	probably benign	Het
Baz2a	A	G	10: 127,952,268 (GRCm39)	T617A	probably damaging	Het
Cacna1c	T	C	6: 118,728,359 (GRCm39)	M362V		Het
Cant1	T	A	11: 118,302,128 (GRCm39)	H63L	probably benign	Het
Cdkn2aip	C	A	8: 48,164,243 (GRCm39)	C490F	probably damaging	Het
Clint1	C	A	11: 45,799,782 (GRCm39)	L514M	probably benign	Het
Clint1	T	A	11: 45,799,783 (GRCm39)	L514Q	possibly damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cspg5	T	C	9: 110,080,089 (GRCm39)	F419S	probably damaging	Het
Ehmt2	C	A	17: 35,122,417 (GRCm39)	A328E	probably benign	Het
Ercc6l2	T	C	13: 63,992,447 (GRCm39)	S299P	probably damaging	Het
F13b	T	C	1: 139,435,961 (GRCm39)	C256R	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,141 (GRCm39)	T75A	probably damaging	Het
Fam227a	T	C	15: 79,532,952 (GRCm39)	M69V	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Grin2c	C	T	11: 115,142,065 (GRCm39)	E785K	probably damaging	Het
H2-M2	A	T	17: 37,792,176 (GRCm39)	S325T	probably benign	Het
Hmgcr	A	G	13: 96,795,885 (GRCm39)	S261P	probably damaging	Het
Impg1	T	A	9: 80,347,351 (GRCm39)		probably benign	Het
Irag2	T	C	6: 145,083,273 (GRCm39)	V4A	probably benign	Het
Krit1	A	G	5: 3,862,996 (GRCm39)		probably benign	Het
Krtap26-1	A	T	16: 88,444,161 (GRCm39)	N153K	probably benign	Het
Mfsd14b	G	T	13: 65,223,500 (GRCm39)	A178E	probably damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Myh6	A	T	14: 55,185,596 (GRCm39)	I1531N	possibly damaging	Het
Myo7a	G	T	7: 97,728,465 (GRCm39)	A836D	probably benign	Het
Ncam1	A	T	9: 49,481,198 (GRCm39)	S19T	probably benign	Het
Nes	T	A	3: 87,885,735 (GRCm39)	D1331E	probably damaging	Het
Nsd2	G	A	5: 34,037,478 (GRCm39)	R700Q	possibly damaging	Het
Nxt1	A	T	2: 148,517,331 (GRCm39)	Y24F	possibly damaging	Het
Or14c39	G	A	7: 86,343,969 (GRCm39)	V102I	probably benign	Het
Or52n4	T	A	7: 104,293,835 (GRCm39)	H248L	probably damaging	Het
Or5g24-ps1	A	T	2: 85,464,144 (GRCm39)	T124S	probably benign	Het
Or6f2	G	A	7: 139,756,884 (GRCm39)	V284I	probably benign	Het
Or8b40	G	A	9: 38,027,550 (GRCm39)	V158M	possibly damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or9g20	G	T	2: 85,630,302 (GRCm39)	A104E	possibly damaging	Het
Pex5l	T	A	3: 33,006,683 (GRCm39)	Q562L	probably damaging	Het
Plxna2	A	G	1: 194,476,197 (GRCm39)	Y1139C	probably damaging	Het
Prelp	T	C	1: 133,842,329 (GRCm39)	N272S	probably damaging	Het
Rtkn2	A	G	10: 67,841,416 (GRCm39)	K188R	probably damaging	Het
Sbno2	G	A	10: 79,898,591 (GRCm39)	R624W	probably damaging	Het
Scn8a	T	A	15: 100,927,642 (GRCm39)	C1374S	probably damaging	Het
Serpina1e	T	A	12: 103,917,361 (GRCm39)	T103S	probably benign	Het
Sh3tc2	A	G	18: 62,107,571 (GRCm39)	E194G	probably benign	Het
Slc36a3	A	T	11: 55,016,515 (GRCm39)	I360N	probably damaging	Het
Sphk1	T	C	11: 116,426,449 (GRCm39)	V135A	probably damaging	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tnip2	C	T	5: 34,671,177 (GRCm39)	C22Y	probably damaging	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Trp73	T	C	4: 154,152,088 (GRCm39)	T187A	probably benign	Het
Tspan33	C	T	6: 29,717,611 (GRCm39)	Q276*	probably null	Het
Ttn	C	T	2: 76,542,871 (GRCm39)	G33372R	probably damaging	Het
Vmn2r31	T	A	7: 7,397,680 (GRCm39)	T193S	probably benign	Het
Vps54	T	C	11: 21,213,273 (GRCm39)	F19L	probably benign	Het
Vwa8	A	G	14: 79,296,179 (GRCm39)	T856A	probably damaging	Het
Zscan4b	A	T	7: 10,634,840 (GRCm39)	Y468N	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
R1650:Cenpn	UTSW	8	117,661,498 (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
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'- TTCTTCTCACTTGCAAGAGTGG -3'
(R):5'- TGACTAAAAGCTTCATCCACTCG -3'

Sequencing Primer
(F):5'- TGTCTTGCGACAGGGCTCAC -3'
(R):5'- ATCCACTCGCTAGCCTGCAG -3'

Posted On

2021-11-19