Mutagenetix > Incidental Mutation

Incidental Mutation 'R6620:Apc2'

528137

Institutional Source

Beutler Lab

Gene Symbol

Apc2

Ensembl Gene

ENSMUSG00000020135

Gene Name

APC regulator of WNT signaling pathway 2

Synonyms

APCL

MMRRC Submission

044743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R6620 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

80131811-80154097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80149401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1485 (P1485L)

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

probably benign
Transcript: ENSMUST00000020349
AA Change: P1456L

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135
AA Change: P1456L

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: P1485L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135
AA Change: P1485L

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	T	3: 36,120,294 (GRCm39)	A13S	possibly damaging	Het
Ahnak	G	A	19: 8,992,674 (GRCm39)	E4653K	possibly damaging	Het
Atp9b	A	T	18: 80,851,902 (GRCm39)	L397*	probably null	Het
Ces1e	C	A	8: 93,950,546 (GRCm39)	K79N	probably damaging	Het
Col12a1	A	C	9: 79,527,331 (GRCm39)	I2666M	probably damaging	Het
Dock10	T	A	1: 80,570,355 (GRCm39)	N361I	probably benign	Het
Dock3	C	A	9: 106,815,125 (GRCm39)	M1247I	probably benign	Het
Evi5l	C	A	8: 4,256,674 (GRCm39)	A720E	possibly damaging	Het
F5	T	C	1: 164,014,375 (GRCm39)	F549L	probably damaging	Het
Gpx2	T	C	12: 76,839,674 (GRCm39)	N108S	possibly damaging	Het
Ifnar1	T	C	16: 91,293,155 (GRCm39)		probably null	Het
Kcnj16	T	C	11: 110,915,473 (GRCm39)	V45A	probably damaging	Het
Kng1	T	C	16: 22,900,232 (GRCm39)	L402P	possibly damaging	Het
Lct	C	A	1: 128,222,809 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,112,888 (GRCm39)	K106N	probably benign	Het
Map3k13	A	T	16: 21,711,061 (GRCm39)	I115F	possibly damaging	Het
Mapre2	T	C	18: 23,991,002 (GRCm39)	V123A	probably benign	Het
Mtfr1l	A	G	4: 134,256,394 (GRCm39)		probably null	Het
Or10g6	T	A	9: 39,934,225 (GRCm39)	C179S	probably damaging	Het
Or4c99	A	G	2: 88,356,743 (GRCm39)	Y272C	probably damaging	Het
Pbxip1	G	A	3: 89,355,133 (GRCm39)	V551I	probably benign	Het
Pcdha8	T	C	18: 37,125,581 (GRCm39)	I21T	probably benign	Het
Plekha5	G	A	6: 140,518,601 (GRCm39)	R296Q	probably damaging	Het
Psme2	A	C	14: 55,825,928 (GRCm39)	D126E	probably damaging	Het
Psmg2	T	C	18: 67,774,807 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,291,629 (GRCm39)		probably null	Het
Sdr39u1	C	T	14: 56,135,172 (GRCm39)	R257H	probably damaging	Het
Sorbs2	G	T	8: 46,249,213 (GRCm39)	R802S	probably damaging	Het
Spata31	A	G	13: 65,067,571 (GRCm39)	N78D	possibly damaging	Het
Spatc1l	A	G	10: 76,405,756 (GRCm39)	D320G	probably damaging	Het
Ttc8	T	C	12: 98,923,579 (GRCm39)	Y212H	possibly damaging	Het
Vmn2r112	G	A	17: 22,822,082 (GRCm39)	M253I	probably benign	Het
Zbed5	A	G	5: 129,932,130 (GRCm39)	E693G	possibly damaging	Het
Zfp808	T	A	13: 62,320,638 (GRCm39)	N622K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACGAGACCTTACAGGGAC -3'
(R):5'- GATGGAGTCTCCTTTCTGCCTG -3'

Sequencing Primer
(F):5'- TTACAGGGACCCTCCAGG -3'
(R):5'- CCGGTTTCTCGCGCTTTAGAG -3'

Posted On

2018-07-24