Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Anapc2'

191347

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

039752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25162490-25175927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25164724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000115177 (fasta)

Gene Model

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

AlphaFold

Q8BZQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000028341
AA Change: D322G

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

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965
AA Change: D322G

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: ENSMUST00000125885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129265

Predicted Effect

probably benign
Transcript: ENSMUST00000129300
AA Change: D36G

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115177
Gene: ENSMUSG00000026965
AA Change: D36G

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,122,655 (GRCm39)	D413G	probably benign	Het
Actr5	G	T	2: 158,478,057 (GRCm39)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,637,125 (GRCm39)	D426N	probably benign	Het
Adra1a	T	C	14: 66,875,727 (GRCm39)	L234P	probably damaging	Het
Akap9	G	T	5: 4,022,791 (GRCm39)	V1207L	possibly damaging	Het
Apol8	A	G	15: 77,633,566 (GRCm39)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,585,492 (GRCm39)	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,227,746 (GRCm39)	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm39)	F284L	probably benign	Het
Bltp3b	T	C	10: 89,618,448 (GRCm39)	V141A	probably damaging	Het
C1qtnf6	A	T	15: 78,411,640 (GRCm39)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,693,608 (GRCm39)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,269,654 (GRCm39)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,328,917 (GRCm39)	Y277C	probably damaging	Het
Cit	G	A	5: 116,105,956 (GRCm39)	D947N	probably damaging	Het
Clint1	T	A	11: 45,778,237 (GRCm39)	I126K	probably damaging	Het
Col6a4	C	T	9: 105,903,671 (GRCm39)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,149,371 (GRCm39)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,690,209 (GRCm39)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,343,035 (GRCm39)	F1460L	probably benign	Het
Edc3	T	C	9: 57,655,462 (GRCm39)		probably null	Het
Edn1	A	G	13: 42,458,826 (GRCm39)	E163G	probably benign	Het
Efl1	A	T	7: 82,332,929 (GRCm39)	D317V	possibly damaging	Het
Elapor2	T	G	5: 9,478,407 (GRCm39)	C424G	probably damaging	Het
F2	A	T	2: 91,459,175 (GRCm39)	Y430*	probably null	Het
Faap100	C	T	11: 120,265,407 (GRCm39)	V490M	probably damaging	Het
Fuz	G	T	7: 44,546,415 (GRCm39)	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848 (GRCm39)	H1616Q	probably benign	Het
Grm1	G	T	10: 10,622,538 (GRCm39)		probably null	Het
Gucy2d	G	T	7: 98,126,437 (GRCm39)	A1098S	probably benign	Het
H1f0	T	A	15: 78,913,195 (GRCm39)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,463,083 (GRCm39)		probably benign	Het
Heg1	G	A	16: 33,527,549 (GRCm39)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,736,049 (GRCm39)	K578*	probably null	Het
Ikbke	A	G	1: 131,186,947 (GRCm39)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,650,510 (GRCm39)	F185L	probably damaging	Het
Itgal	T	A	7: 126,906,099 (GRCm39)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm39)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,504,182 (GRCm39)	N3709D	probably benign	Het
Lipf	A	T	19: 33,943,066 (GRCm39)	K125*	probably null	Het
Lrif1	A	T	3: 106,640,452 (GRCm39)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,420 (GRCm39)	Y142*	probably null	Het
Med13l	A	G	5: 118,880,060 (GRCm39)	T1051A	probably damaging	Het
Mpp3	T	A	11: 101,916,582 (GRCm39)	M1L	possibly damaging	Het
Mro	C	T	18: 74,009,806 (GRCm39)	S159L	probably benign	Het
Myh15	T	A	16: 48,913,145 (GRCm39)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,462,490 (GRCm39)	Q547R	probably benign	Het
Neb	T	C	2: 52,097,733 (GRCm39)	I902M	probably benign	Het
Nsd1	G	A	13: 55,394,711 (GRCm39)	D771N	probably damaging	Het
Or10x4	A	G	1: 174,219,486 (GRCm39)	I284V	probably benign	Het
Or14a256	T	C	7: 86,265,664 (GRCm39)	N63S	probably damaging	Het
Or2a20	T	C	6: 43,194,494 (GRCm39)	S216P	probably damaging	Het
Or4e5	A	C	14: 52,728,051 (GRCm39)	Y40*	probably null	Het
Or8b48	C	T	9: 38,492,585 (GRCm39)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm39)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,673,272 (GRCm39)	S144L	probably benign	Het
Ptprq	T	A	10: 107,522,155 (GRCm39)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,526,650 (GRCm39)	C304*	probably null	Het
Rbp3	T	C	14: 33,678,866 (GRCm39)	V938A	probably benign	Het
Rpp30	A	G	19: 36,071,827 (GRCm39)	K132E	probably damaging	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Ryr1	A	T	7: 28,801,295 (GRCm39)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,075,886 (GRCm39)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,738,127 (GRCm39)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,874,344 (GRCm39)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,304,807 (GRCm39)	T185S	probably null	Het
Slc23a1	A	C	18: 35,758,904 (GRCm39)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,025,103 (GRCm39)		probably null	Het
Spmap1	A	G	11: 97,662,435 (GRCm39)	F146L	probably damaging	Het
Suco	A	T	1: 161,661,623 (GRCm39)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,732,606 (GRCm39)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,898,598 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,560,414 (GRCm39)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm39)	I101V	probably benign	Het
Ube2o	A	T	11: 116,435,433 (GRCm39)	C452S	probably benign	Het
Uxs1	A	T	1: 43,804,081 (GRCm39)	I278N	probably damaging	Het
Vps54	T	C	11: 21,256,519 (GRCm39)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 102,074,391 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,549,439 (GRCm39)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,342,436 (GRCm39)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,928,979 (GRCm39)	N68S	probably damaging	Het
Znfx1	A	T	2: 166,885,986 (GRCm39)	L858*	probably null	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
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'- GCAGTCTTGGCCTAGAGTCGTAAAC -3'
(R):5'- TCAGAGGGAGTCTACCATGCTCAC -3'

Sequencing Primer
(F):5'- GTCGTAAACTTGGAAACTCCTGG -3'
(R):5'- GCAAAGGCAATCACTGGG -3'

Posted On

2014-05-14