Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01933:Apc2'

180499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apc2

Ensembl Gene

ENSMUSG00000020135

Gene Name

APC regulator of WNT signaling pathway 2

Synonyms

APCL

Accession Numbers

Essential gene?

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

Stock #

IGL01933

Quality Score

Status

Chromosome

Chromosomal Location

80131811-80154097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80147574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 847 (D847G)

Ref Sequence

ENSEMBL: ENSMUSP00000020349 (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: D847G

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

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: D847G

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: D876G

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

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: D876G

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,650 (GRCm39)	V575F	possibly damaging	Het
Abca2	T	A	2: 25,334,123 (GRCm39)	V1800E	probably damaging	Het
Acacb	C	T	5: 114,322,251 (GRCm39)		probably benign	Het
Adam34	C	A	8: 44,104,569 (GRCm39)	G359W	probably damaging	Het
Ankrd42	G	A	7: 92,254,493 (GRCm39)	T372I	probably benign	Het
Arap3	T	A	18: 38,111,506 (GRCm39)	T1137S	possibly damaging	Het
Atp10b	A	C	11: 43,085,457 (GRCm39)	T279P	probably damaging	Het
Bmp2	T	A	2: 133,396,578 (GRCm39)	M78K	possibly damaging	Het
Ccdc61	T	G	7: 18,626,483 (GRCm39)	M369L	probably benign	Het
Cep78	A	T	19: 15,933,304 (GRCm39)	I758N	probably benign	Het
Ces2a	A	G	8: 105,468,047 (GRCm39)	*526W	probably null	Het
Cgnl1	C	T	9: 71,552,765 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,104 (GRCm39)	Y173H	probably damaging	Het
Cntn4	G	A	6: 106,671,345 (GRCm39)	S976N	probably damaging	Het
Col6a4	G	A	9: 105,937,313 (GRCm39)	T1401I	probably benign	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dixdc1	G	A	9: 50,614,558 (GRCm39)	R163*	probably null	Het
Dmxl1	C	A	18: 50,010,852 (GRCm39)	T1003K	probably benign	Het
Dnah1	G	A	14: 31,032,872 (GRCm39)	R388W	probably benign	Het
Eci3	C	T	13: 35,132,772 (GRCm39)	A202T	probably damaging	Het
Egr2	T	C	10: 67,376,024 (GRCm39)	S220P	probably damaging	Het
Fntb	C	T	12: 76,966,880 (GRCm39)	P405S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm26602	C	A	10: 79,746,955 (GRCm39)	R236L	probably benign	Het
Hao2	T	C	3: 98,787,648 (GRCm39)		probably benign	Het
Irgm2	A	T	11: 58,110,783 (GRCm39)	N170I	possibly damaging	Het
Klhl20	G	A	1: 160,934,357 (GRCm39)	R221W	probably damaging	Het
Kmt2b	A	G	7: 30,268,939 (GRCm39)		probably null	Het
Lrrc46	C	T	11: 96,926,354 (GRCm39)	E181K	probably benign	Het
Lztr1	T	A	16: 17,338,455 (GRCm39)	V226E	probably damaging	Het
Myh9	G	T	15: 77,665,418 (GRCm39)	D684E	probably benign	Het
Myo7a	T	C	7: 97,732,349 (GRCm39)	T713A	probably damaging	Het
Nrap	G	T	19: 56,377,250 (GRCm39)	N62K	probably damaging	Het
Or51a10	T	C	7: 103,699,021 (GRCm39)	Y180C	probably damaging	Het
Or5an1	A	T	19: 12,261,069 (GRCm39)	Y219F	probably damaging	Het
Osbp2	T	C	11: 3,662,016 (GRCm39)	D708G	probably damaging	Het
Pcnx2	G	A	8: 126,488,393 (GRCm39)	P1717L	probably damaging	Het
Pex1	A	G	5: 3,683,789 (GRCm39)	D1095G	probably damaging	Het
Ptpn3	T	C	4: 57,197,576 (GRCm39)	H771R	probably benign	Het
R3hcc1l	G	A	19: 42,551,389 (GRCm39)	A129T	probably damaging	Het
Rbm15	G	A	3: 107,238,419 (GRCm39)	R660W	probably damaging	Het
Recql	C	T	6: 142,310,364 (GRCm39)	V489M	probably benign	Het
Sash1	A	T	10: 8,626,897 (GRCm39)	S162R	probably damaging	Het
Sec11a	T	C	7: 80,584,810 (GRCm39)	I42M	probably benign	Het
Slc25a23	G	A	17: 57,359,813 (GRCm39)	Q61*	probably null	Het
Son	A	T	16: 91,454,903 (GRCm39)	M1217L	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,339,593 (GRCm39)	N123S	probably damaging	Het
Ssh1	T	C	5: 114,088,441 (GRCm39)		probably benign	Het
St13	T	C	15: 81,273,899 (GRCm39)		probably null	Het
St3gal3	A	T	4: 117,889,072 (GRCm39)	D57E	probably damaging	Het
Stk4	C	T	2: 163,940,505 (GRCm39)		probably benign	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Tln1	T	C	4: 43,555,894 (GRCm39)	T107A	possibly damaging	Het
Tmem135	G	T	7: 88,793,065 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,467 (GRCm39)	M696T	probably benign	Het
Trbv28	T	A	6: 41,248,761 (GRCm39)	L97Q	probably damaging	Het
Trpc4ap	A	T	2: 155,481,455 (GRCm39)	F534I	possibly damaging	Het
Trpm8	T	C	1: 88,254,127 (GRCm39)	Y117H	probably damaging	Het
Zfp608	T	C	18: 55,120,871 (GRCm39)	T239A	probably benign	Het
Zmym5	T	G	14: 57,041,617 (GRCm39)	H162P	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
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
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

Posted On

2014-05-07