Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03172:Apc2'

411885

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: 0.172) question?

Stock #

IGL03172

Quality Score

Status

Chromosome

Chromosomal Location

80131811-80154097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80149220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1425 (Q1425K)

Ref Sequence

ENSEMBL: ENSMUSP00000100996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020341] [ENSMUST00000020349] [ENSMUST00000105359]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020341

SMART Domains

Protein: ENSMUSP00000020341
Gene: ENSMUSG00000020133

Domain	Start	End	E-Value	Type
Pfam:UPF0449	6	103	7.5e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020349
AA Change: Q1396K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: Q1396K

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: Q1425K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: Q1425K

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,003 (GRCm39)	H528R	probably damaging	Het
A530053G22Rik	A	T	6: 60,379,047 (GRCm39)		noncoding transcript	Het
Aagab	A	G	9: 63,542,676 (GRCm39)		probably benign	Het
Aknad1	A	T	3: 108,688,519 (GRCm39)	I616F	possibly damaging	Het
Ap2a1	A	C	7: 44,553,479 (GRCm39)	D629E	probably benign	Het
Asf1b	A	C	8: 84,694,542 (GRCm39)	H102P	probably benign	Het
Celf6	C	T	9: 59,489,565 (GRCm39)	A90V	probably damaging	Het
Chrna2	A	T	14: 66,379,688 (GRCm39)	Q9L	probably benign	Het
Csnk1g3	A	G	18: 54,086,356 (GRCm39)	I420M	possibly damaging	Het
Eml3	T	C	19: 8,916,543 (GRCm39)		probably benign	Het
Epn3	T	C	11: 94,382,456 (GRCm39)	N508S	possibly damaging	Het
Fam120a	T	C	13: 49,063,812 (GRCm39)	Y608C	probably damaging	Het
Fbn1	A	C	2: 125,162,888 (GRCm39)	C2133G	possibly damaging	Het
Fhl5	A	G	4: 25,211,309 (GRCm39)	F128L	probably damaging	Het
Fn1	T	C	1: 71,680,421 (GRCm39)	N428S	probably damaging	Het
Fxr2	T	C	11: 69,540,665 (GRCm39)		probably null	Het
Gabrp	T	C	11: 33,504,388 (GRCm39)	Y309C	probably damaging	Het
Golga2	A	G	2: 32,182,168 (GRCm39)	I50V	probably benign	Het
Ifi203	C	T	1: 173,764,158 (GRCm39)	G105R	possibly damaging	Het
Itgav	A	T	2: 83,596,190 (GRCm39)	Q201L	possibly damaging	Het
Jade2	T	C	11: 51,716,198 (GRCm39)	T336A	probably damaging	Het
Kdm4b	A	G	17: 56,708,649 (GRCm39)	D996G	probably damaging	Het
Me2	A	G	18: 73,903,797 (GRCm39)	I557T	probably benign	Het
Memo1	A	C	17: 74,551,996 (GRCm39)	L100R	probably damaging	Het
Mrps2	A	G	2: 28,359,818 (GRCm39)	N225S	probably damaging	Het
Ndufa2	A	G	18: 36,877,278 (GRCm39)		probably null	Het
Or2g7	G	T	17: 38,378,275 (GRCm39)	C71F	probably damaging	Het
Or7g19	G	A	9: 18,856,757 (GRCm39)	S271N	probably benign	Het
Pak5	G	T	2: 135,940,310 (GRCm39)	Y501*	probably null	Het
Pot1b	A	T	17: 56,002,206 (GRCm39)	F123I	possibly damaging	Het
Rev3l	T	C	10: 39,700,786 (GRCm39)	V1761A	probably benign	Het
Samd3	T	A	10: 26,106,064 (GRCm39)	V14E	probably damaging	Het
Slc4a8	G	A	15: 100,697,598 (GRCm39)	A605T	probably benign	Het
Smgc	A	T	15: 91,744,642 (GRCm39)	D333V	probably damaging	Het
Spata4	A	G	8: 55,055,440 (GRCm39)	I147V	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r73	G	A	7: 85,507,495 (GRCm39)	H606Y	probably benign	Het
Vsig8	A	G	1: 172,387,916 (GRCm39)	N2S	probably damaging	Het
Wdr17	A	C	8: 55,114,515 (GRCm39)	I667R	probably damaging	Het
Yif1b	A	G	7: 28,937,873 (GRCm39)		probably null	Het
Zbtb5	A	T	4: 44,994,003 (GRCm39)	H460Q	possibly damaging	Het
Zdhhc21	G	A	4: 82,724,564 (GRCm39)		probably benign	Het
Zfp944	A	T	17: 22,559,018 (GRCm39)	H76Q	probably damaging	Het
Zkscan1	A	G	5: 138,092,264 (GRCm39)	Q146R	probably benign	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
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

2016-08-02