Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01154:Apc2'

52177

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apc2

Ensembl Gene

ENSMUSG00000020135

Gene Name

adenomatosis polyposis coli 2

Synonyms

APCL

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

80295977-80318263 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80313069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1319 (E1319G)

Ref Sequence

ENSEMBL: ENSMUSP00000100996 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020349
AA Change: E1290G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: E1290G

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

possibly damaging
Transcript: ENSMUST00000105359
AA Change: E1319G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: E1319G

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

Meta Mutation Damage Score

0.0750

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Apc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Apc2	APN	10	80311986	missense	probably damaging	1.00
IGL01411:Apc2	APN	10	80315078	missense	probably damaging	0.99
IGL01598:Apc2	APN	10	80313048	missense	probably damaging	1.00
IGL01621:Apc2	APN	10	80306201	missense	probably damaging	1.00
IGL01720:Apc2	APN	10	80314499	missense	probably benign	0.01
IGL01837:Apc2	APN	10	80314658	missense	probably benign	0.24
IGL01933:Apc2	APN	10	80311740	missense	probably damaging	1.00
IGL02243:Apc2	APN	10	80302341	missense	probably damaging	1.00
IGL02292:Apc2	APN	10	80302424	missense	possibly damaging	0.59
IGL02956:Apc2	APN	10	80306375	missense	probably damaging	1.00
IGL03081:Apc2	APN	10	80312252	missense	probably damaging	1.00
IGL03172:Apc2	APN	10	80313386	missense	probably damaging	0.98
LCD18:Apc2	UTSW	10	80299974	intron	probably benign
R0278:Apc2	UTSW	10	80312813	missense	possibly damaging	0.90
R0501:Apc2	UTSW	10	80315124	missense	probably damaging	1.00
R0594:Apc2	UTSW	10	80306256	nonsense	probably null
R0607:Apc2	UTSW	10	80314101	missense	probably benign
R0624:Apc2	UTSW	10	80314583	missense	probably benign	0.00
R0633:Apc2	UTSW	10	80307455	missense	probably damaging	0.99
R0638:Apc2	UTSW	10	80304967	missense	probably damaging	0.99
R0647:Apc2	UTSW	10	80304928	missense	probably damaging	1.00
R0830:Apc2	UTSW	10	80315405	missense	probably damaging	1.00
R1071:Apc2	UTSW	10	80311502	missense	probably damaging	1.00
R1221:Apc2	UTSW	10	80306380	missense	probably damaging	1.00
R1432:Apc2	UTSW	10	80312349	missense	probably benign	0.00
R1579:Apc2	UTSW	10	80311345	missense	probably damaging	1.00
R1654:Apc2	UTSW	10	80301842	missense	possibly damaging	0.75
R1700:Apc2	UTSW	10	80312769	missense	probably damaging	1.00
R1774:Apc2	UTSW	10	80309130	missense	probably damaging	1.00
R1864:Apc2	UTSW	10	80313648	missense	probably damaging	1.00
R1908:Apc2	UTSW	10	80314844	missense	probably benign	0.05
R1915:Apc2	UTSW	10	80315867	missense	probably benign
R1999:Apc2	UTSW	10	80309160	missense	probably damaging	1.00
R2050:Apc2	UTSW	10	80307609	splice site	probably null
R2219:Apc2	UTSW	10	80309109	missense	probably benign	0.41
R2393:Apc2	UTSW	10	80313069	missense	possibly damaging	0.90
R3862:Apc2	UTSW	10	80307559	missense	possibly damaging	0.82
R3900:Apc2	UTSW	10	80295972	splice site	probably null
R3901:Apc2	UTSW	10	80315088	missense	possibly damaging	0.94
R3952:Apc2	UTSW	10	80314484	missense	probably damaging	1.00
R4009:Apc2	UTSW	10	80313592	missense	probably benign	0.00
R4090:Apc2	UTSW	10	80305544	missense	probably damaging	0.97
R4695:Apc2	UTSW	10	80311043	missense	probably damaging	1.00
R4754:Apc2	UTSW	10	80314358	missense	probably benign	0.01
R4807:Apc2	UTSW	10	80314362	missense	probably benign	0.13
R4886:Apc2	UTSW	10	80314213	missense	probably damaging	1.00
R4964:Apc2	UTSW	10	80314007	missense	probably benign	0.14
R5056:Apc2	UTSW	10	80301314	missense	probably benign
R5057:Apc2	UTSW	10	80309069	missense	probably damaging	0.99
R5165:Apc2	UTSW	10	80315850	missense	probably damaging	0.99
R5241:Apc2	UTSW	10	80312234	missense	probably benign
R5649:Apc2	UTSW	10	80314138	missense	probably damaging	1.00
R5924:Apc2	UTSW	10	80312150	missense	probably damaging	1.00
R6124:Apc2	UTSW	10	80306351	missense	probably damaging	0.98
R6218:Apc2	UTSW	10	80306420	missense	probably damaging	0.98
R6376:Apc2	UTSW	10	80312654	missense	probably damaging	1.00
R6490:Apc2	UTSW	10	80313923	missense	probably benign	0.01
R6572:Apc2	UTSW	10	80311779	missense	probably damaging	1.00
R6620:Apc2	UTSW	10	80313567	missense	probably damaging	0.97
R7171:Apc2	UTSW	10	80315336	missense	possibly damaging	0.65
R7180:Apc2	UTSW	10	80311156	missense	possibly damaging	0.94
R7326:Apc2	UTSW	10	80311740	missense	probably damaging	1.00
R7340:Apc2	UTSW	10	80313482	missense	probably benign	0.12
R7378:Apc2	UTSW	10	80311394	missense	probably damaging	1.00
R7384:Apc2	UTSW	10	80312624	missense	probably damaging	1.00
R7431:Apc2	UTSW	10	80302183	missense	possibly damaging	0.83
R7543:Apc2	UTSW	10	80314886	missense	possibly damaging	0.72
R7743:Apc2	UTSW	10	80304915	missense	probably damaging	0.99
R7759:Apc2	UTSW	10	80311196	missense	probably damaging	1.00
R8244:Apc2	UTSW	10	80315332	missense	probably damaging	0.99
R8327:Apc2	UTSW	10	80301930	missense	probably damaging	1.00
R8489:Apc2	UTSW	10	80307464	missense	probably damaging	1.00
R8494:Apc2	UTSW	10	80314479	missense	probably damaging	1.00
R8669:Apc2	UTSW	10	80313657	missense	probably damaging	1.00
R8773:Apc2	UTSW	10	80306212	missense	probably damaging	1.00
R8920:Apc2	UTSW	10	80314100	missense	probably benign
R9178:Apc2	UTSW	10	80314401	missense	probably benign	0.11
R9224:Apc2	UTSW	10	80314277	missense	probably damaging	0.97
R9357:Apc2	UTSW	10	80311038	missense	probably damaging	1.00
R9394:Apc2	UTSW	10	80309172	missense	probably damaging	1.00
X0018:Apc2	UTSW	10	80312264	missense	probably benign	0.02
Z1177:Apc2	UTSW	10	80312036	missense	probably damaging	1.00

Posted On

2013-06-21