Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Anapc2'

40202

Institutional Source

Beutler Lab

Gene Symbol

Anapc2

Ensembl Gene

ENSMUSG00000026965

Gene Name

anaphase promoting complex subunit 2

Synonyms

Emi4, expressed during mesenchymal induction 4, 9230107K09Rik, Imi4, APC2

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0415 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25162490-25175927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25168337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 159 (T159A)

Ref Sequence

ENSEMBL: ENSMUSP00000115177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028341] [ENSMUST00000129300]

AlphaFold

Q8BZQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028341
AA Change: T445A

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: T445A

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	123	133	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
low complexity region	456	467	N/A	INTRINSIC
CULLIN	515	663	6.72e-9	SMART
APC2	772	832	3.67e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129265

Predicted Effect

probably damaging
Transcript: ENSMUST00000129300
AA Change: T159A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965
AA Change: T159A

Domain	Start	End	E-Value	Type
low complexity region	170	181	N/A	INTRINSIC

Meta Mutation Damage Score

0.1895

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: This gene encodes a component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle by ubiquitinating its specific substrates, such as mitotic cyclins and anaphase inhibitor, for subsequent degradation by the proteasome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality before E6.5. Conditional ablation in the liver results in liver failure and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 24,036,048 (GRCm39)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,306,811 (GRCm39)		probably null	Het
Adgra3	C	A	5: 50,119,099 (GRCm39)		probably benign	Het
Adgre4	G	A	17: 56,159,288 (GRCm39)	V658I	probably benign	Het
Ahnak	A	G	19: 8,990,235 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,488,875 (GRCm39)		probably benign	Het
Atf7ip	C	T	6: 136,537,010 (GRCm39)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,253,031 (GRCm39)		probably benign	Het
Camk1	A	T	6: 113,318,852 (GRCm39)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,122,944 (GRCm39)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,619,897 (GRCm39)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,426,628 (GRCm39)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 105,952,279 (GRCm39)	V540I	probably damaging	Het
Cst9	T	A	2: 148,680,362 (GRCm39)		probably benign	Het
Cul5	C	T	9: 53,578,370 (GRCm39)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,349,574 (GRCm39)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,317,539 (GRCm39)		probably benign	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dip2c	C	T	13: 9,618,325 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,324,892 (GRCm39)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,516,359 (GRCm39)	L3*	probably null	Het
Dop1a	T	A	9: 86,388,555 (GRCm39)	L480M	probably damaging	Het
Eml6	A	G	11: 29,699,392 (GRCm39)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,126,500 (GRCm39)	N115S	probably damaging	Het
Fryl	T	C	5: 73,255,757 (GRCm39)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,724,051 (GRCm39)		probably benign	Het
Gm7137	A	G	10: 77,624,007 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,891,322 (GRCm39)	Q132L	probably benign	Het
Habp2	T	C	19: 56,306,149 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,562,284 (GRCm39)		probably benign	Het
Htr6	A	G	4: 138,789,392 (GRCm39)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,251,530 (GRCm39)	D199G	unknown	Het
Itih2	A	G	2: 10,110,426 (GRCm39)		probably benign	Het
Kcnab2	A	G	4: 152,479,593 (GRCm39)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,352,749 (GRCm39)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,313,043 (GRCm39)		probably null	Het
Kndc1	C	T	7: 139,510,037 (GRCm39)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,464,446 (GRCm39)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,959,731 (GRCm39)	L47P	probably damaging	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Lyst	T	C	13: 13,886,195 (GRCm39)		probably benign	Het
Macrod2	G	A	2: 142,052,065 (GRCm39)		probably null	Het
Mical2	C	T	7: 111,980,235 (GRCm39)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,759,576 (GRCm39)		probably benign	Het
Msh3	A	G	13: 92,483,294 (GRCm39)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,191,569 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or51e2	C	T	7: 102,391,294 (GRCm39)	M305I	probably benign	Het
Or5m10	A	T	2: 85,717,782 (GRCm39)	I213F	possibly damaging	Het
Or5m9	A	T	2: 85,877,399 (GRCm39)	H191L	probably benign	Het
Or8c15	A	T	9: 38,121,269 (GRCm39)	M305L	probably benign	Het
Or8g2	A	G	9: 39,821,279 (GRCm39)	Y60C	probably damaging	Het
Pard3	G	A	8: 128,337,047 (GRCm39)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm39)	A120V	probably damaging	Het
Pcsk6	C	T	7: 65,683,622 (GRCm39)	R746C	probably damaging	Het
Pif1	G	A	9: 65,495,333 (GRCm39)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,179,419 (GRCm39)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,591,256 (GRCm39)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,334,318 (GRCm39)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,602 (GRCm39)	Y45C	probably damaging	Het
Prex1	A	G	2: 166,428,619 (GRCm39)		probably benign	Het
Pth2r	A	G	1: 65,427,598 (GRCm39)	M424V	probably benign	Het
Pygm	A	G	19: 6,441,396 (GRCm39)	R464G	probably benign	Het
Rad51c	A	G	11: 87,288,481 (GRCm39)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,415,965 (GRCm39)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,540,525 (GRCm39)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,305,295 (GRCm39)	I509F	probably damaging	Het
Ro60	G	T	1: 143,635,813 (GRCm39)	N444K	probably benign	Het
Ryr2	T	C	13: 11,884,042 (GRCm39)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,844,224 (GRCm39)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,283,453 (GRCm39)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,581,190 (GRCm39)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,347,780 (GRCm39)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,119,122 (GRCm39)	T583P	probably benign	Het
Slc66a3	C	A	12: 17,047,711 (GRCm39)		probably benign	Het
Smg1	C	A	7: 117,781,691 (GRCm39)	A1199S	probably benign	Het
Spint1	A	G	2: 119,076,096 (GRCm39)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,099,576 (GRCm39)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,379,516 (GRCm39)		probably benign	Het
Tas2r123	A	T	6: 132,824,801 (GRCm39)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,355,796 (GRCm39)	C139F	probably benign	Het
Thbs2	A	C	17: 14,900,235 (GRCm39)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,640,769 (GRCm39)	E980G	probably damaging	Het
Tmem247	G	T	17: 87,229,750 (GRCm39)	C197F	probably damaging	Het
Tmem43	C	A	6: 91,459,300 (GRCm39)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,248,430 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,973,224 (GRCm39)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,478,006 (GRCm39)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,877,317 (GRCm39)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,606,253 (GRCm39)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,610,618 (GRCm39)	C25G	probably damaging	Het
Xndc1	T	C	7: 101,729,823 (GRCm39)		probably benign	Het
Zfp282	A	G	6: 47,874,815 (GRCm39)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,881,987 (GRCm39)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,250,246 (GRCm39)	T56S	unknown	Het
Zfp345	A	G	2: 150,316,479 (GRCm39)		probably benign	Het

Other mutations in Anapc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Anapc2	APN	2	25,164,794 (GRCm39)	missense	possibly damaging	0.65
IGL01575:Anapc2	APN	2	25,175,188 (GRCm39)	splice site	probably benign
IGL01993:Anapc2	APN	2	25,164,725 (GRCm39)	missense	probably benign	0.00
IGL02586:Anapc2	APN	2	25,175,108 (GRCm39)	missense	probably benign	0.08
IGL02721:Anapc2	APN	2	25,164,680 (GRCm39)	nonsense	probably null
FR4976:Anapc2	UTSW	2	25,162,544 (GRCm39)	unclassified	probably benign
R1539:Anapc2	UTSW	2	25,163,075 (GRCm39)	missense	probably benign
R1675:Anapc2	UTSW	2	25,162,651 (GRCm39)	missense	possibly damaging	0.88
R1720:Anapc2	UTSW	2	25,164,724 (GRCm39)	missense	probably benign	0.13
R2150:Anapc2	UTSW	2	25,162,682 (GRCm39)	missense	probably benign	0.27
R2173:Anapc2	UTSW	2	25,163,288 (GRCm39)	missense	probably benign	0.01
R4028:Anapc2	UTSW	2	25,167,750 (GRCm39)	missense	probably damaging	1.00
R4254:Anapc2	UTSW	2	25,163,357 (GRCm39)	missense	probably benign	0.08
R4643:Anapc2	UTSW	2	25,166,406 (GRCm39)	missense	probably benign
R4742:Anapc2	UTSW	2	25,163,555 (GRCm39)	splice site	probably null
R4824:Anapc2	UTSW	2	25,167,764 (GRCm39)	missense	probably damaging	1.00
R5039:Anapc2	UTSW	2	25,164,808 (GRCm39)	missense	possibly damaging	0.70
R5530:Anapc2	UTSW	2	25,174,595 (GRCm39)	missense	possibly damaging	0.81
R6456:Anapc2	UTSW	2	25,170,207 (GRCm39)	missense	probably damaging	1.00
R6479:Anapc2	UTSW	2	25,175,407 (GRCm39)	missense	probably benign	0.04
R6587:Anapc2	UTSW	2	25,162,550 (GRCm39)	unclassified	probably benign
R7164:Anapc2	UTSW	2	25,175,011 (GRCm39)	missense	probably damaging	1.00
R7494:Anapc2	UTSW	2	25,166,376 (GRCm39)	missense	possibly damaging	0.95
R7829:Anapc2	UTSW	2	25,167,753 (GRCm39)	missense	probably damaging	1.00
R7954:Anapc2	UTSW	2	25,164,712 (GRCm39)	missense	probably damaging	1.00
R7970:Anapc2	UTSW	2	25,163,299 (GRCm39)	missense	possibly damaging	0.85
R8015:Anapc2	UTSW	2	25,174,688 (GRCm39)	missense	probably benign	0.08
R8064:Anapc2	UTSW	2	25,166,418 (GRCm39)	missense	probably benign
R8838:Anapc2	UTSW	2	25,163,546 (GRCm39)	missense	probably benign	0.11
R8954:Anapc2	UTSW	2	25,170,490 (GRCm39)	missense	probably benign	0.00
R9180:Anapc2	UTSW	2	25,163,303 (GRCm39)	missense	probably benign	0.08
R9468:Anapc2	UTSW	2	25,163,132 (GRCm39)	missense	possibly damaging	0.67
R9525:Anapc2	UTSW	2	25,166,339 (GRCm39)	missense	probably damaging	1.00
R9750:Anapc2	UTSW	2	25,174,982 (GRCm39)	missense	possibly damaging	0.82
RF042:Anapc2	UTSW	2	25,162,573 (GRCm39)	unclassified	probably benign
RF043:Anapc2	UTSW	2	25,162,573 (GRCm39)	unclassified	probably benign
RF062:Anapc2	UTSW	2	25,162,549 (GRCm39)	frame shift	probably null
X0025:Anapc2	UTSW	2	25,169,290 (GRCm39)	missense	probably benign	0.01
Z1088:Anapc2	UTSW	2	25,163,380 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCTGGTAGAGTCCTTGGCAAAG -3'
(R):5'- AAGCTGACCTGGATCAGCATCCAC -3'

Sequencing Primer
(F):5'- AAAGCTGGTCATTAAGCCCTTC -3'
(R):5'- GATCAGCATCCACAGGGTCAG -3'

Posted On

2013-05-23