Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Apc2'

266037

Institutional Source

Beutler Lab

Gene Symbol

Apc2

Ensembl Gene

ENSMUSG00000020135

Gene Name

APC regulator of WNT signaling pathway 2

Synonyms

APCL

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80131811-80154097 bp(+) (GRCm39)

Type of Mutation

splice site (33 bp from exon)

DNA Base Change (assembly)

C to A at 80143443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020349] [ENSMUST00000105359]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020349

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135

Domain	Start	End	E-Value	Type
PDB:1DEB\|B	4	57	9e-17	PDB
Pfam:Suppressor_APC	123	205	1.3e-28	PFAM
coiled coil region	214	236	N/A	INTRINSIC
low complexity region	242	261	N/A	INTRINSIC
ARM	300	355	2.95e0	SMART
ARM	417	468	2.22e-2	SMART
ARM	470	511	3.22e0	SMART
ARM	513	555	3.56e-1	SMART
ARM	557	602	2.1e1	SMART
ARM	607	647	1.82e-7	SMART
Blast:ARM	649	689	6e-18	BLAST
low complexity region	772	792	N/A	INTRINSIC
low complexity region	817	844	N/A	INTRINSIC
low complexity region	859	870	N/A	INTRINSIC
low complexity region	971	980	N/A	INTRINSIC
low complexity region	1057	1069	N/A	INTRINSIC
low complexity region	1087	1103	N/A	INTRINSIC
Pfam:APC_crr	1134	1159	4.4e-9	PFAM
low complexity region	1197	1208	N/A	INTRINSIC
Pfam:APC_crr	1244	1269	4.1e-8	PFAM
Pfam:SAMP	1323	1343	2.1e-10	PFAM
Pfam:APC_crr	1369	1394	5.8e-8	PFAM
low complexity region	1500	1516	N/A	INTRINSIC
Pfam:APC_crr	1540	1565	5.7e-8	PFAM
Pfam:SAMP	1594	1613	8.8e-11	PFAM
low complexity region	1673	1699	N/A	INTRINSIC
Pfam:APC_basic	1757	2093	1.1e-142	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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly 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
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
R3900:Apc2	UTSW	10	80,131,806 (GRCm39)	splice site	probably null
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

Posted On

2015-02-05