Mutagenetix > Incidental Mutation

Incidental Mutation 'R3900:Apc2'

366026

Institutional Source

Beutler Lab

Gene Symbol

Apc2

Ensembl Gene

ENSMUSG00000020135

Gene Name

APC regulator of WNT signaling pathway 2

Synonyms

APCL

MMRRC Submission

041607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R3900 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80131811-80154097 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 80131806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062674] [ENSMUST00000068408] [ENSMUST00000105359] [ENSMUST00000154212]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062674

SMART Domains

Protein: ENSMUSP00000100997
Gene: ENSMUSG00000063457

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19	20	101	5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068408

SMART Domains

Protein: ENSMUSP00000069004
Gene: ENSMUSG00000063457

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
Pfam:Ribosomal_S19	47	128	1.6e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105359

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:APC_N_CC	30	81	2.7e-34	PFAM
Pfam:Suppressor_APC	148	228	1.4e-27	PFAM
coiled coil region	238	260	N/A	INTRINSIC
low complexity region	266	285	N/A	INTRINSIC
ARM	324	379	2.95e0	SMART
ARM	446	497	2.22e-2	SMART
ARM	499	540	3.22e0	SMART
ARM	542	584	3.56e-1	SMART
ARM	586	631	2.1e1	SMART
ARM	636	676	1.82e-7	SMART
Blast:ARM	678	718	6e-18	BLAST
Pfam:Arm_APC_u3	719	977	1.1e-26	PFAM
low complexity region	1000	1009	N/A	INTRINSIC
low complexity region	1086	1098	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
Pfam:APC_crr	1164	1187	9.3e-8	PFAM
low complexity region	1226	1237	N/A	INTRINSIC
Pfam:APC_crr	1274	1297	7.9e-10	PFAM
Pfam:APC_crr	1399	1423	1.3e-9	PFAM
low complexity region	1529	1545	N/A	INTRINSIC
low complexity region	1585	1603	N/A	INTRINSIC
Pfam:SAMP	1624	1642	1.3e-11	PFAM
low complexity region	1702	1728	N/A	INTRINSIC
Pfam:APC_basic	1786	2122	1.3e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140658

Predicted Effect

probably benign
Transcript: ENSMUST00000154212

SMART Domains

Protein: ENSMUSP00000118171
Gene: ENSMUSG00000020135

Domain	Start	End	E-Value	Type
PDB:1DEB\|B	6	57	7e-21	PDB

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (45/46)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display gradual postnatal growth retardation, abnormal lamination of the cerebral cortex, hippocampus, olfactory bulb and cerebellum, impaired neuronal migration and impaired coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,781 (GRCm39)	S212R	probably damaging	Het
AI182371	T	C	2: 34,975,228 (GRCm39)	I334V	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Bcl6	T	G	16: 23,796,304 (GRCm39)	E41A	possibly damaging	Het
Brpf1	A	G	6: 113,295,394 (GRCm39)	I674V	probably benign	Het
Cherp	A	G	8: 73,223,780 (GRCm39)	I201T	possibly damaging	Het
Cluh	A	G	11: 74,557,930 (GRCm39)	H1056R	probably benign	Het
Csgalnact2	A	T	6: 118,097,975 (GRCm39)	F122I	probably damaging	Het
Cubn	C	A	2: 13,291,791 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,985,634 (GRCm39)	I1481N	possibly damaging	Het
Eif2ak4	A	G	2: 118,305,510 (GRCm39)	Y1561C	probably damaging	Het
Elfn1	G	A	5: 139,957,719 (GRCm39)	R241H	probably damaging	Het
Eml5	G	A	12: 98,791,782 (GRCm39)	R1245C	probably damaging	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm6133	A	G	18: 78,393,365 (GRCm39)	N120D	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf9	T	C	1: 172,317,125 (GRCm39)	L35P	probably damaging	Het
Khdc3	T	C	9: 73,011,628 (GRCm39)		probably benign	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Mrgpra1	G	T	7: 46,985,275 (GRCm39)	R135S	possibly damaging	Het
Or4c11b	A	T	2: 88,625,273 (GRCm39)	L182F	possibly damaging	Het
Or8g2b	A	G	9: 39,750,698 (GRCm39)		probably null	Het
Otud3	T	C	4: 138,624,196 (GRCm39)	N282S	probably benign	Het
Prkar1a	A	G	11: 109,551,901 (GRCm39)	K130R	probably benign	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Rictor	T	G	15: 6,818,954 (GRCm39)	D1392E	probably benign	Het
Setd2	C	T	9: 110,421,586 (GRCm39)	R273W	probably damaging	Het
Slc22a18	C	A	7: 143,033,507 (GRCm39)	A86E	probably damaging	Het
Slc24a1	A	T	9: 64,835,426 (GRCm39)	S900R	probably damaging	Het
Smarcc1	T	C	9: 109,947,586 (GRCm39)		probably benign	Het
Smoc1	T	C	12: 81,214,287 (GRCm39)	V234A	probably damaging	Het
Stard9	A	G	2: 120,544,030 (GRCm39)	T4443A	possibly damaging	Het
Timp2	C	T	11: 118,194,542 (GRCm39)	D139N	probably damaging	Het
Trim69	A	G	2: 122,009,322 (GRCm39)	T461A	probably benign	Het
Ubash3b	C	T	9: 40,942,860 (GRCm39)	D211N	probably benign	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,019,486 (GRCm39)	D752G	probably damaging	Het
Urb1	A	T	16: 90,580,264 (GRCm39)	I633N	possibly damaging	Het
Usp36	T	A	11: 118,170,650 (GRCm39)	D28V	possibly damaging	Het
Wdr6	G	A	9: 108,452,968 (GRCm39)	A305V	probably damaging	Het
Zfp248	T	C	6: 118,406,527 (GRCm39)	N253S	probably damaging	Het

Other mutations in Apc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Apc2	APN	10	80,147,820 (GRCm39)	missense	probably damaging	1.00
IGL01154:Apc2	APN	10	80,148,903 (GRCm39)	missense	possibly damaging	0.90
IGL01411:Apc2	APN	10	80,150,912 (GRCm39)	missense	probably damaging	0.99
IGL01598:Apc2	APN	10	80,148,882 (GRCm39)	missense	probably damaging	1.00
IGL01621:Apc2	APN	10	80,142,035 (GRCm39)	missense	probably damaging	1.00
IGL01720:Apc2	APN	10	80,150,333 (GRCm39)	missense	probably benign	0.01
IGL01837:Apc2	APN	10	80,150,492 (GRCm39)	missense	probably benign	0.24
IGL01933:Apc2	APN	10	80,147,574 (GRCm39)	missense	probably damaging	1.00
IGL02243:Apc2	APN	10	80,138,175 (GRCm39)	missense	probably damaging	1.00
IGL02292:Apc2	APN	10	80,138,258 (GRCm39)	missense	possibly damaging	0.59
IGL02956:Apc2	APN	10	80,142,209 (GRCm39)	missense	probably damaging	1.00
IGL03081:Apc2	APN	10	80,148,086 (GRCm39)	missense	probably damaging	1.00
IGL03172:Apc2	APN	10	80,149,220 (GRCm39)	missense	probably damaging	0.98
LCD18:Apc2	UTSW	10	80,135,808 (GRCm39)	intron	probably benign
R0278:Apc2	UTSW	10	80,148,647 (GRCm39)	missense	possibly damaging	0.90
R0501:Apc2	UTSW	10	80,150,958 (GRCm39)	missense	probably damaging	1.00
R0594:Apc2	UTSW	10	80,142,090 (GRCm39)	nonsense	probably null
R0607:Apc2	UTSW	10	80,149,935 (GRCm39)	missense	probably benign
R0624:Apc2	UTSW	10	80,150,417 (GRCm39)	missense	probably benign	0.00
R0633:Apc2	UTSW	10	80,143,289 (GRCm39)	missense	probably damaging	0.99
R0638:Apc2	UTSW	10	80,140,801 (GRCm39)	missense	probably damaging	0.99
R0647:Apc2	UTSW	10	80,140,762 (GRCm39)	missense	probably damaging	1.00
R0830:Apc2	UTSW	10	80,151,239 (GRCm39)	missense	probably damaging	1.00
R1071:Apc2	UTSW	10	80,147,336 (GRCm39)	missense	probably damaging	1.00
R1221:Apc2	UTSW	10	80,142,214 (GRCm39)	missense	probably damaging	1.00
R1432:Apc2	UTSW	10	80,148,183 (GRCm39)	missense	probably benign	0.00
R1579:Apc2	UTSW	10	80,147,179 (GRCm39)	missense	probably damaging	1.00
R1654:Apc2	UTSW	10	80,137,676 (GRCm39)	missense	possibly damaging	0.75
R1700:Apc2	UTSW	10	80,148,603 (GRCm39)	missense	probably damaging	1.00
R1774:Apc2	UTSW	10	80,144,964 (GRCm39)	missense	probably damaging	1.00
R1864:Apc2	UTSW	10	80,149,482 (GRCm39)	missense	probably damaging	1.00
R1908:Apc2	UTSW	10	80,150,678 (GRCm39)	missense	probably benign	0.05
R1915:Apc2	UTSW	10	80,151,701 (GRCm39)	missense	probably benign
R1999:Apc2	UTSW	10	80,144,994 (GRCm39)	missense	probably damaging	1.00
R2050:Apc2	UTSW	10	80,143,443 (GRCm39)	splice site	probably null
R2219:Apc2	UTSW	10	80,144,943 (GRCm39)	missense	probably benign	0.41
R2393:Apc2	UTSW	10	80,148,903 (GRCm39)	missense	possibly damaging	0.90
R3862:Apc2	UTSW	10	80,143,393 (GRCm39)	missense	possibly damaging	0.82
R3901:Apc2	UTSW	10	80,150,922 (GRCm39)	missense	possibly damaging	0.94
R3952:Apc2	UTSW	10	80,150,318 (GRCm39)	missense	probably damaging	1.00
R4009:Apc2	UTSW	10	80,149,426 (GRCm39)	missense	probably benign	0.00
R4090:Apc2	UTSW	10	80,141,378 (GRCm39)	missense	probably damaging	0.97
R4695:Apc2	UTSW	10	80,146,877 (GRCm39)	missense	probably damaging	1.00
R4754:Apc2	UTSW	10	80,150,192 (GRCm39)	missense	probably benign	0.01
R4807:Apc2	UTSW	10	80,150,196 (GRCm39)	missense	probably benign	0.13
R4886:Apc2	UTSW	10	80,150,047 (GRCm39)	missense	probably damaging	1.00
R4964:Apc2	UTSW	10	80,149,841 (GRCm39)	missense	probably benign	0.14
R5056:Apc2	UTSW	10	80,137,148 (GRCm39)	missense	probably benign
R5057:Apc2	UTSW	10	80,144,903 (GRCm39)	missense	probably damaging	0.99
R5165:Apc2	UTSW	10	80,151,684 (GRCm39)	missense	probably damaging	0.99
R5241:Apc2	UTSW	10	80,148,068 (GRCm39)	missense	probably benign
R5649:Apc2	UTSW	10	80,149,972 (GRCm39)	missense	probably damaging	1.00
R5924:Apc2	UTSW	10	80,147,984 (GRCm39)	missense	probably damaging	1.00
R6124:Apc2	UTSW	10	80,142,185 (GRCm39)	missense	probably damaging	0.98
R6218:Apc2	UTSW	10	80,142,254 (GRCm39)	missense	probably damaging	0.98
R6376:Apc2	UTSW	10	80,148,488 (GRCm39)	missense	probably damaging	1.00
R6490:Apc2	UTSW	10	80,149,757 (GRCm39)	missense	probably benign	0.01
R6572:Apc2	UTSW	10	80,147,613 (GRCm39)	missense	probably damaging	1.00
R6620:Apc2	UTSW	10	80,149,401 (GRCm39)	missense	probably damaging	0.97
R7171:Apc2	UTSW	10	80,151,170 (GRCm39)	missense	possibly damaging	0.65
R7180:Apc2	UTSW	10	80,146,990 (GRCm39)	missense	possibly damaging	0.94
R7326:Apc2	UTSW	10	80,147,574 (GRCm39)	missense	probably damaging	1.00
R7340:Apc2	UTSW	10	80,149,316 (GRCm39)	missense	probably benign	0.12
R7378:Apc2	UTSW	10	80,147,228 (GRCm39)	missense	probably damaging	1.00
R7384:Apc2	UTSW	10	80,148,458 (GRCm39)	missense	probably damaging	1.00
R7431:Apc2	UTSW	10	80,138,017 (GRCm39)	missense	possibly damaging	0.83
R7543:Apc2	UTSW	10	80,150,720 (GRCm39)	missense	possibly damaging	0.72
R7743:Apc2	UTSW	10	80,140,749 (GRCm39)	missense	probably damaging	0.99
R7759:Apc2	UTSW	10	80,147,030 (GRCm39)	missense	probably damaging	1.00
R8244:Apc2	UTSW	10	80,151,166 (GRCm39)	missense	probably damaging	0.99
R8327:Apc2	UTSW	10	80,137,764 (GRCm39)	missense	probably damaging	1.00
R8489:Apc2	UTSW	10	80,143,298 (GRCm39)	missense	probably damaging	1.00
R8494:Apc2	UTSW	10	80,150,313 (GRCm39)	missense	probably damaging	1.00
R8669:Apc2	UTSW	10	80,149,491 (GRCm39)	missense	probably damaging	1.00
R8773:Apc2	UTSW	10	80,142,046 (GRCm39)	missense	probably damaging	1.00
R8920:Apc2	UTSW	10	80,149,934 (GRCm39)	missense	probably benign
R9178:Apc2	UTSW	10	80,150,235 (GRCm39)	missense	probably benign	0.11
R9224:Apc2	UTSW	10	80,150,111 (GRCm39)	missense	probably damaging	0.97
R9357:Apc2	UTSW	10	80,146,872 (GRCm39)	missense	probably damaging	1.00
R9394:Apc2	UTSW	10	80,145,006 (GRCm39)	missense	probably damaging	1.00
R9666:Apc2	UTSW	10	80,147,183 (GRCm39)	missense	possibly damaging	0.57
R9689:Apc2	UTSW	10	80,150,733 (GRCm39)	missense	probably damaging	1.00
X0018:Apc2	UTSW	10	80,148,098 (GRCm39)	missense	probably benign	0.02
Z1177:Apc2	UTSW	10	80,147,870 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACCGGTTCCAACACTTAG -3'
(R):5'- TGGCTAGCTTGACAGTTGAG -3'

Sequencing Primer
(F):5'- GTGCTCCAGGCCTGTTAGATATATG -3'
(R):5'- AGCTTGACAGTTGAGTGTCCTCTAC -3'

Posted On

2015-12-21