Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Anapc2'

557777

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25272478-25285915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25284999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 710 (R710C)

Ref Sequence

ENSEMBL: ENSMUSP00000028341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028337] [ENSMUST00000028340] [ENSMUST00000028341]

AlphaFold

Q8BZQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000028337

SMART Domains

Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LRRNT	42	75	1.86e0	SMART
LRR	72	93	7.57e0	SMART
LRR	95	117	6.96e0	SMART
LRR_TYP	118	141	1e-5	SMART
LRR	142	165	6.22e0	SMART
LRR	166	189	2.86e-1	SMART
LRRCT	201	254	3.01e-5	SMART
transmembrane domain	267	289	N/A	INTRINSIC
low complexity region	293	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028340

SMART Domains

Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:TMEM210	32	144	1.1e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000028341
AA Change: R710C

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

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: R710C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	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
R0415:Anapc2	UTSW	2	25278325	missense	probably damaging	1.00
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
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
R9750:Anapc2	UTSW	2	25284970	missense	possibly damaging	0.82
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'- TAACATGCCAGATTCCCCAG -3'
(R):5'- ATGGCCAACGTACCAGTAGC -3'

Sequencing Primer
(F):5'- GGTAGCAACCATTCTTTTTACCTATG -3'
(R):5'- AACGTACCAGTAGCTCCTCTTC -3'

Posted On

2019-06-26