Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Apc2'

92592

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: 0.233) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

80295977-80318263 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80306201 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 318 (L318R)

Ref Sequence

ENSEMBL: ENSMUSP00000100996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020349] [ENSMUST00000105359] [ENSMUST00000138909] [ENSMUST00000140828] [ENSMUST00000154212]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020349
AA Change: L294R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: L294R

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 damaging
Transcript: ENSMUST00000105359
AA Change: L318R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: L318R

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

probably benign
Transcript: ENSMUST00000138909

SMART Domains

Protein: ENSMUSP00000116795
Gene: ENSMUSG00000020135

Domain	Start	End	E-Value	Type
PDB:1DEB\|B	21	72	1e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140658

Predicted Effect

probably benign
Transcript: ENSMUST00000140828

SMART Domains

Protein: ENSMUSP00000121324
Gene: ENSMUSG00000020135

Domain	Start	End	E-Value	Type
PDB:1DEB\|B	43	94	1e-20	PDB

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably 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
IGL01154:Apc2	APN	10	80313069	missense	possibly damaging	0.90
IGL01411:Apc2	APN	10	80315078	missense	probably damaging	0.99
IGL01598:Apc2	APN	10	80313048	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
X0018:Apc2	UTSW	10	80312264	missense	probably benign	0.02
Z1177:Apc2	UTSW	10	80312036	missense	probably damaging	1.00

Posted On

2013-12-09