Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Anapc2'

171514

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

039578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25162490-25175927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25163075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 104 (T104K)

Ref Sequence

ENSEMBL: ENSMUSP00000028341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028341] [ENSMUST00000028342] [ENSMUST00000114336] [ENSMUST00000129300]

AlphaFold

Q8BZQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000028341
AA Change: T104K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: T104K

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: ENSMUST00000028342

SMART Domains

Protein: ENSMUSP00000028342
Gene: ENSMUSG00000026966

Domain	Start	End	E-Value	Type
coiled coil region	13	70	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114336

SMART Domains

Protein: ENSMUSP00000109975
Gene: ENSMUSG00000048707

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	8	89	8.3e-38	PFAM
low complexity region	105	117	N/A	INTRINSIC
internal_repeat_1	149	273	1.71e-5	PROSPERO
low complexity region	290	322	N/A	INTRINSIC
low complexity region	401	410	N/A	INTRINSIC
Pfam:Phostensin	506	645	1.8e-65	PFAM
low complexity region	647	665	N/A	INTRINSIC
low complexity region	684	697	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129265

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137361

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Akna	T	A	4: 63,297,547 (GRCm39)	T836S	probably benign	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dmac2l	G	A	12: 69,787,845 (GRCm39)	D94N	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,747,869 (GRCm39)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Ninl	A	G	2: 150,817,867 (GRCm39)	V99A	probably damaging	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Pkn1	C	A	8: 84,396,966 (GRCm39)	R890L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,247,394 (GRCm39)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	probably damaging	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
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'- GCAGATTTCCCGCGACTTTGCATAC -3'
(R):5'- AGCAAGCCCAGACGAGTCCATTTC -3'

Sequencing Primer
(F):5'- GCATACTTTAGGGGGTCCAC -3'
(R):5'- CTCTAGGAGTTCTAGGCTATGCAG -3'

Posted On

2014-04-13