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

MMRRC Submission

038617-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0415 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25272478-25285915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25278325 bp (GRCm38)

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: 23,831,050		noncoding transcript	Het
Acox2	A	G	14: 8,243,835		probably benign	Het
Adgb	T	C	10: 10,431,067		probably null	Het
Adgra3	C	A	5: 49,961,757		probably benign	Het
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871		probably benign	Het
Arfgef3	A	G	10: 18,613,127		probably benign	Het
Atf7ip	C	T	6: 136,560,012	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830		probably benign	Het
Camk1	A	T	6: 113,341,891	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442		probably benign	Het
Cul5	C	T	9: 53,667,070	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289		probably benign	Het
Dis3	A	T	14: 99,087,456	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225		probably benign	Het
Gm7137	A	G	10: 77,788,173		probably benign	Het
Gstm2	T	A	3: 107,984,006	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717		probably benign	Het
Hectd2	T	C	19: 36,584,884		probably benign	Het
Htr6	A	G	4: 139,062,081	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910	D199G	unknown	Het
Itih2	A	G	2: 10,105,615		probably benign	Het
Kcnab2	A	G	4: 152,395,136	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975		probably null	Het
Kndc1	C	T	7: 139,930,124	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610		probably benign	Het
Macrod2	G	A	2: 142,210,145		probably null	Het
Micalcl	C	T	7: 112,381,028	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339		probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634		probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710		probably benign	Het
Prex1	A	G	2: 166,586,699		probably benign	Het
Pth2r	A	G	1: 65,388,439	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092		probably benign	Het
Tas2r123	A	T	6: 132,847,838	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132		probably null	Het
Trove2	G	T	1: 143,760,075	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616		probably benign	Het
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559		probably benign	Het

Other mutations in Anapc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Anapc2	APN	2	25274782	missense	possibly damaging	0.65
IGL01575:Anapc2	APN	2	25285176	splice site	probably benign
IGL01993:Anapc2	APN	2	25274713	missense	probably benign	0.00
IGL02586:Anapc2	APN	2	25285096	missense	probably benign	0.08
IGL02721:Anapc2	APN	2	25274668	nonsense	probably null
FR4976:Anapc2	UTSW	2	25272532	unclassified	probably benign
R1539:Anapc2	UTSW	2	25273063	missense	probably benign
R1675:Anapc2	UTSW	2	25272639	missense	possibly damaging	0.88
R1720:Anapc2	UTSW	2	25274712	missense	probably benign	0.13
R2150:Anapc2	UTSW	2	25272670	missense	probably benign	0.27
R2173:Anapc2	UTSW	2	25273276	missense	probably benign	0.01
R4028:Anapc2	UTSW	2	25277738	missense	probably damaging	1.00
R4254:Anapc2	UTSW	2	25273345	missense	probably benign	0.08
R4643:Anapc2	UTSW	2	25276394	missense	probably benign
R4742:Anapc2	UTSW	2	25273543	splice site	probably null
R4824:Anapc2	UTSW	2	25277752	missense	probably damaging	1.00
R5039:Anapc2	UTSW	2	25274796	missense	possibly damaging	0.70
R5530:Anapc2	UTSW	2	25284583	missense	possibly damaging	0.81
R6456:Anapc2	UTSW	2	25280195	missense	probably damaging	1.00
R6479:Anapc2	UTSW	2	25285395	missense	probably benign	0.04
R6587:Anapc2	UTSW	2	25272538	unclassified	probably benign
R7164:Anapc2	UTSW	2	25284999	missense	probably damaging	1.00
R7494:Anapc2	UTSW	2	25276364	missense	possibly damaging	0.95
R7829:Anapc2	UTSW	2	25277741	missense	probably damaging	1.00
R7954:Anapc2	UTSW	2	25274700	missense	probably damaging	1.00
R7970:Anapc2	UTSW	2	25273287	missense	possibly damaging	0.85
R8015:Anapc2	UTSW	2	25284676	missense	probably benign	0.08
R8064:Anapc2	UTSW	2	25276406	missense	probably benign
R8838:Anapc2	UTSW	2	25273534	missense	probably benign	0.11
R8954:Anapc2	UTSW	2	25280478	missense	probably benign	0.00
R9180:Anapc2	UTSW	2	25273291	missense	probably benign	0.08
R9468:Anapc2	UTSW	2	25273120	missense	possibly damaging	0.67
R9525:Anapc2	UTSW	2	25276327	missense	probably damaging	1.00
RF042:Anapc2	UTSW	2	25272561	unclassified	probably benign
RF043:Anapc2	UTSW	2	25272561	unclassified	probably benign
RF062:Anapc2	UTSW	2	25272537	frame shift	probably null
X0025:Anapc2	UTSW	2	25279278	missense	probably benign	0.01
Z1088:Anapc2	UTSW	2	25273368	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