Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Apc2'

568929

Institutional Source

Beutler Lab

Gene Symbol

Apc2

Ensembl Gene

ENSMUSG00000020135

Gene Name

adenomatosis polyposis coli 2

Synonyms

APCL

MMRRC Submission

045378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R7326 (G1)

Quality Score

217.009

Status

Not validated

Chromosome

Chromosomal Location

80295977-80318263 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80311740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 876 (D876V)

Ref Sequence

ENSEMBL: ENSMUSP00000100996 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020349
AA Change: D847V

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

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: D847V

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: D876V

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

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: D876V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,978,545		probably null	Het
Abcb4	T	C	5: 8,934,226	V652A	probably benign	Het
Acvrl1	G	T	15: 101,141,072	V417L	probably damaging	Het
Add1	A	G	5: 34,619,371	R479G	probably benign	Het
Adgb	A	T	10: 10,400,574	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,846,870	S666T	probably benign	Het
Akap9	T	A	5: 4,045,930	D2268E	possibly damaging	Het
Amigo3	C	A	9: 108,054,066	H229Q	probably benign	Het
Ano6	G	C	15: 95,864,244	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,175,019	D180N	probably damaging	Het
Apcdd1	T	A	18: 62,952,188	Y485*	probably null	Het
Aqp1	G	T	6: 55,336,851	D121Y	probably benign	Het
Bicd2	C	A	13: 49,369,609	R141S	probably benign	Het
Brpf3	C	A	17: 28,806,293	H113Q	probably benign	Het
Cacng2	A	T	15: 78,013,320	Y96*	probably null	Het
Catsperg1	G	T	7: 29,210,759	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,394,995	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,332,605	N516K	probably benign	Het
Ciita	G	A	16: 10,512,288	R812H	probably damaging	Het
Cldn3	T	A	5: 134,986,983	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,077,299	I512V	probably benign	Het
Col5a2	A	T	1: 45,442,867	D32E	unknown	Het
Coro7	A	G	16: 4,632,048	V616A	probably damaging	Het
Cyp4f18	T	C	8: 71,988,654	D494G	probably benign	Het
Ddx39	T	A	8: 83,722,471	V296E	probably benign	Het
Dgkg	A	T	16: 22,548,690	H593Q	probably damaging	Het
Dhx16	T	C	17: 35,886,160	L645P	probably damaging	Het
Dnah14	A	G	1: 181,598,403	M171V	probably benign	Het
Dnhd1	G	A	7: 105,720,930	V4521I	probably damaging	Het
Dok7	A	T	5: 35,064,522	M60L	probably benign	Het
Donson	A	T	16: 91,688,711	M1K	probably null	Het
Dsp	C	T	13: 38,192,883	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,692,043	T712A	probably damaging	Het
Eef2	A	G	10: 81,181,282	T708A	probably benign	Het
Epn3	G	A	11: 94,493,780	T289I	probably benign	Het
Fam171a1	C	T	2: 3,226,472	R881*	probably null	Het
Fam71a	G	A	1: 191,164,353	T31M	probably benign	Het
Fat2	T	A	11: 55,282,304	R2528W	probably damaging	Het
Fgfr1	T	G	8: 25,573,839	F707C	probably damaging	Het
Frem2	G	C	3: 53,654,753	P778A	probably damaging	Het
Ganc	A	G	2: 120,430,599	Y255C	probably damaging	Het
Ginm1	A	T	10: 7,777,850	Y65*	probably null	Het
Gm11559	T	A	11: 99,864,881	C119S	unknown	Het
Gnai1	T	A	5: 18,289,551	H188L		Het
H6pd	C	T	4: 149,996,350	A13T	probably benign	Het
Hist1h2be	T	C	13: 23,585,923	K12E	probably benign	Het
Hoxd12	A	T	2: 74,675,246	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,833,194	L242M	probably damaging	Het
Il9r	C	A	11: 32,194,389	V139L	possibly damaging	Het
Immt	A	G	6: 71,846,369	D68G	probably damaging	Het
Itsn2	A	G	12: 4,632,985	I304V	unknown	Het
Lgr4	G	A	2: 109,996,629	W159*	probably null	Het
Lin52	G	A	12: 84,457,954	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,719,453	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,456,778	R180S	possibly damaging	Het
Lrrc29	T	C	8: 105,312,898	D127G	probably damaging	Het
Lrrc36	A	T	8: 105,449,769	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,329,755	Q235L	unknown	Het
Maml2	A	G	9: 13,621,607	M706V		Het
Mc5r	G	T	18: 68,339,668	C366F	probably damaging	Het
Mlip	T	C	9: 77,164,842	R244G	probably benign	Het
Muc16	T	A	9: 18,585,013	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046	H73N	possibly damaging	Het
Nf1	A	G	11: 79,564,943	M565V	probably benign	Het
Nphp1	G	A	2: 127,761,217	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,564,026	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,800,409	N361Y	probably damaging	Het
Olfr1045	A	G	2: 86,198,573	Y60H	probably damaging	Het
Olfr1309	A	T	2: 111,983,327	L249*	probably null	Het
Olfr308	A	G	7: 86,321,574	I126T	probably damaging	Het
Olfr461	G	T	6: 40,544,895	A28E	probably damaging	Het
Olfr518	A	T	7: 108,880,816	H263Q	probably damaging	Het
Olfr836	A	G	9: 19,121,669	Y235C	probably benign	Het
Olfr993	A	T	2: 85,414,444	V145E	probably damaging	Het
Orc5	A	G	5: 22,523,584	F308L	probably benign	Het
Padi1	T	A	4: 140,832,404	Y54F	probably benign	Het
Parp1	A	G	1: 180,569,100	K23E	possibly damaging	Het
Pate1	A	T	9: 35,685,972	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,756,860	H2R	probably benign	Het
Pcnx2	G	A	8: 125,887,083	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,859,734	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,507,325	N254K	probably damaging	Het
Psd	A	G	19: 46,324,454	L159P	probably benign	Het
Ptprf	A	G	4: 118,231,669	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,937,633	S92T	probably benign	Het
Rabgef1	A	G	5: 130,187,351		probably benign	Het
Ralgapa1	C	A	12: 55,709,004	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,385,463	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989		probably benign	Het
Ryr2	T	A	13: 11,738,194	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,439,717	L13P	unknown	Het
Sppl3	C	A	5: 115,082,335	T102K	probably damaging	Het
Srgap2	A	T	1: 131,291,613	Y264*	probably null	Het
Stxbp2	T	C	8: 3,641,151	M465T		Het
Sumf2	A	G	5: 129,862,710	K305R	probably benign	Het
Susd2	T	A	10: 75,642,565	Y59F	probably benign	Het
Taco1	T	C	11: 106,072,617	V198A	probably benign	Het
Tas2r136	A	T	6: 132,777,906	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,184,898	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,564,059	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,617,800	Y457*	probably null	Het
Ttc38	A	G	15: 85,852,861	T316A	probably benign	Het
Ubqln4	T	A	3: 88,555,910	N127K	probably benign	Het
Wdr91	A	T	6: 34,904,626	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,302,755	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,430,209	C140R	probably damaging	Het
Zfp266	T	C	9: 20,502,095	T90A	probably benign	Het
Zfp407	A	T	18: 84,559,042	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,638,277	S135G	probably benign	Het
Zscan29	A	T	2: 121,160,988	I773N	probably damaging	Het
Zswim5	T	A	4: 116,980,834	V787E	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
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
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
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
R9666:Apc2	UTSW	10	80311349	missense	possibly damaging	0.57
R9689:Apc2	UTSW	10	80314899	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

Predicted Primers

PCR Primer
(F):5'- GCCCAGCAGTGATGTCTATG -3'
(R):5'- TGGTGCTACCGCTGTTCAAG -3'

Sequencing Primer
(F):5'- CCAGCAGTGATGTCTATGTTCCTTG -3'
(R):5'- CTGCCTTGAGCCTCAAAAGAGG -3'

Posted On

2019-09-13