Mutagenetix > Incidental Mutation

Incidental Mutation 'R8954:Anapc2'

681799

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

068790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25162490-25175927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25170490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 643 (K643E)

Ref Sequence

ENSEMBL: ENSMUSP00000028341 (fasta)

Gene Model

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

AlphaFold

Q8BZQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000028341
AA Change: K643E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: K643E

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

probably benign
Transcript: ENSMUST00000129300

SMART Domains

Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	A	2: 93,688,299 (GRCm39)	Y445F	probably benign	Het
Actn4	T	C	7: 28,594,583 (GRCm39)	D815G	probably damaging	Het
Adam4	T	C	12: 81,467,146 (GRCm39)	S492G	possibly damaging	Het
Ankfy1	T	A	11: 72,641,317 (GRCm39)	I630K	possibly damaging	Het
Arhgap24	A	G	5: 103,040,136 (GRCm39)	T361A	probably benign	Het
Arhgef28	T	C	13: 98,066,141 (GRCm39)	M1571V	probably benign	Het
Arid5b	A	C	10: 67,937,810 (GRCm39)	V196G	possibly damaging	Het
Art2b	C	A	7: 101,229,110 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,807 (GRCm39)	R932H	probably damaging	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Brd10	A	T	19: 29,696,126 (GRCm39)	N1122K	possibly damaging	Het
C5ar2	C	A	7: 15,971,733 (GRCm39)	V65F	possibly damaging	Het
Cfap54	A	T	10: 92,879,255 (GRCm39)	L403Q	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Chac1	C	T	2: 119,183,836 (GRCm39)	A146V	probably damaging	Het
Cpne2	T	A	8: 95,284,774 (GRCm39)	S317T	probably damaging	Het
Cux1	T	A	5: 136,402,203 (GRCm39)	K138*	probably null	Het
Cwc22	T	A	2: 77,754,937 (GRCm39)	Y214F	probably damaging	Het
Cyp2c39	A	T	19: 39,525,197 (GRCm39)	T167S	probably benign	Het
Cyp4a12a	T	A	4: 115,185,935 (GRCm39)	Y414*	probably null	Het
Dap3	A	T	3: 88,835,570 (GRCm39)	D256E	probably damaging	Het
Dmxl2	C	T	9: 54,381,156 (GRCm39)	S110N	probably benign	Het
Dnhd1	A	T	7: 105,343,986 (GRCm39)	I1777L	probably benign	Het
Ecel1	G	A	1: 87,076,349 (GRCm39)	Q717*	probably null	Het
Efcab3	T	G	11: 104,909,525 (GRCm39)		probably null	Het
Eif3j2	G	A	18: 43,610,699 (GRCm39)	T38M	possibly damaging	Het
Fat3	T	C	9: 16,287,864 (GRCm39)	H553R	probably benign	Het
Fcho2	T	C	13: 98,913,985 (GRCm39)	D204G	probably benign	Het
Frmpd1	A	T	4: 45,284,702 (GRCm39)	E1174D	probably benign	Het
Gabra6	T	A	11: 42,205,959 (GRCm39)	Y299F	probably damaging	Het
Gak	G	A	5: 108,777,518 (GRCm39)		probably benign	Het
Gapdhs	T	A	7: 30,432,591 (GRCm39)	H214L	probably damaging	Het
Gapvd1	T	C	2: 34,568,110 (GRCm39)	Y1418C	probably damaging	Het
Gk5	C	A	9: 96,059,562 (GRCm39)	D471E	probably benign	Het
Glg1	A	G	8: 111,914,527 (GRCm39)	M419T	probably damaging	Het
H2ac25	T	A	11: 58,845,785 (GRCm39)	N74K	possibly damaging	Het
Ice1	T	C	13: 70,758,697 (GRCm39)	N215S	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifitm10	T	C	7: 141,882,300 (GRCm39)	N157D	probably benign	Het
Itga11	A	G	9: 62,676,545 (GRCm39)	D911G	possibly damaging	Het
Kcnt1	A	G	2: 25,784,338 (GRCm39)	N247S	probably benign	Het
Kirrel1	T	C	3: 86,997,173 (GRCm39)	T265A	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Kmt2b	T	G	7: 30,273,640 (GRCm39)	T2326P	probably damaging	Het
Lcn11	A	G	2: 25,669,265 (GRCm39)	S141G	probably benign	Het
Ldb3	T	C	14: 34,277,301 (GRCm39)	R358G	probably null	Het
Ldlr	G	A	9: 21,650,828 (GRCm39)	D446N	possibly damaging	Het
Lipt2	T	C	7: 99,809,449 (GRCm39)	F179L	probably damaging	Het
Lmbrd1	G	T	1: 24,745,121 (GRCm39)	V154F	possibly damaging	Het
Malrd1	A	G	2: 15,556,178 (GRCm39)	I99V		Het
Map1b	T	A	13: 99,570,735 (GRCm39)	E662V	unknown	Het
Mfsd11	T	C	11: 116,750,162 (GRCm39)	S100P	probably damaging	Het
Mgst1	C	T	6: 138,119,967 (GRCm39)		probably benign	Het
Mtf1	T	A	4: 124,698,649 (GRCm39)	V49D	probably damaging	Het
Mtss1	T	C	15: 58,826,986 (GRCm39)	D236G	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	T	A	11: 67,143,806 (GRCm39)	F1089I	possibly damaging	Het
Nrxn1	A	T	17: 90,897,615 (GRCm39)	I835K	probably damaging	Het
Nsd3	T	A	8: 26,163,394 (GRCm39)	S595T	probably damaging	Het
Nt5c2	A	T	19: 46,877,361 (GRCm39)	S527T	probably damaging	Het
Or52m1	T	C	7: 102,289,882 (GRCm39)	V143A	probably benign	Het
Or56b2	T	A	7: 104,337,900 (GRCm39)	L226*	probably null	Het
Or5k3	T	A	16: 58,969,319 (GRCm39)	Y35*	probably null	Het
Or7e175	A	T	9: 20,048,664 (GRCm39)	D84V	probably damaging	Het
Or8k28	C	A	2: 86,285,892 (GRCm39)	C241F	probably damaging	Het
Osbpl8	A	G	10: 111,108,053 (GRCm39)	S350G	probably benign	Het
Otoa	G	A	7: 120,744,741 (GRCm39)	W833*	probably null	Het
Pcdhga6	T	G	18: 37,841,540 (GRCm39)	I420S	probably damaging	Het
Pmfbp1	A	C	8: 110,258,433 (GRCm39)	M666L	probably benign	Het
Pola2	T	G	19: 5,998,452 (GRCm39)	D370A	probably damaging	Het
Ppip5k1	C	G	2: 121,153,701 (GRCm39)		probably benign	Het
Ppp1r12b	A	T	1: 134,762,200 (GRCm39)	D815E	probably benign	Het
Ppp4r3b	T	A	11: 29,155,669 (GRCm39)	V545E	possibly damaging	Het
Ptpn23	A	T	9: 110,221,568 (GRCm39)	N177K	probably damaging	Het
Rad9b	A	T	5: 122,482,293 (GRCm39)	S147R	probably benign	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Samd9l	C	T	6: 3,374,577 (GRCm39)	V895I	probably damaging	Het
Sbf2	T	A	7: 110,038,118 (GRCm39)	K396*	probably null	Het
Sbno2	G	T	10: 79,893,796 (GRCm39)	Q1198K	probably damaging	Het
Scp2d1	C	T	2: 144,665,886 (GRCm39)	T75I	probably damaging	Het
Shank3	T	A	15: 89,433,431 (GRCm39)	I1392N	possibly damaging	Het
Sidt1	A	G	16: 44,082,390 (GRCm39)	F532L	probably benign	Het
Smchd1	A	T	17: 71,755,752 (GRCm39)	V243D	probably damaging	Het
Smg1	T	C	7: 117,806,215 (GRCm39)	R185G	probably damaging	Het
Spag16	C	T	1: 70,036,004 (GRCm39)	S344F		Het
Spata31f3	G	T	4: 42,871,753 (GRCm39)	D207E	probably damaging	Het
Spsb3	A	G	17: 25,110,493 (GRCm39)	D440G	probably damaging	Het
Themis	A	C	10: 28,665,709 (GRCm39)	S591R	probably benign	Het
Trpm1	G	A	7: 63,858,089 (GRCm39)	V177I	probably damaging	Het
Usp37	A	G	1: 74,514,143 (GRCm39)		probably null	Het
Vmn1r171	C	T	7: 23,332,525 (GRCm39)	T238I	probably damaging	Het
Vmn2r33	T	C	7: 7,554,655 (GRCm39)	M633V	probably benign	Het
Vmn2r93	T	A	17: 18,546,252 (GRCm39)	L708H	probably damaging	Het
Vps35l	A	T	7: 118,393,801 (GRCm39)	T450S	possibly damaging	Het
Wdr53	T	A	16: 32,075,473 (GRCm39)	V226E	probably damaging	Het
Wdr62	T	A	7: 29,953,454 (GRCm39)	I193F	probably damaging	Het
Zfp607b	T	A	7: 27,403,387 (GRCm39)	D614E	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
R0415:Anapc2	UTSW	2	25,168,337 (GRCm39)	missense	probably damaging	1.00
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
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'- TTAGGACATGGCAGACTCCC -3'
(R):5'- GCCTCCCATGCCATAATTGAC -3'

Sequencing Primer
(F):5'- GACTCCCGCCGCATCAATG -3'
(R):5'- TTGACCACAAGCTCAGTAAGG -3'

Posted On

2021-08-31