Mutagenetix > Incidental Mutation

Incidental Mutation 'R3161:Amer2'

258182

Institutional Source

Beutler Lab

Gene Symbol

Amer2

Ensembl Gene

ENSMUSG00000021986

Gene Name

APC membrane recruitment 2

Synonyms

Fam123a, Amer2, 2600011E07Rik

MMRRC Submission

040612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R3161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60615141-60625642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60616000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 65 (D65G)

Ref Sequence

ENSEMBL: ENSMUSP00000152965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022561] [ENSMUST00000224957] [ENSMUST00000225247]

AlphaFold

Q8CCJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022561
AA Change: D65G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022561
Gene: ENSMUSG00000021986
AA Change: D65G

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:WTX	57	554	5.2e-199	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224957
AA Change: D65G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225247
AA Change: D65G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.5778

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
1700066M21Rik	T	A	1: 57,422,234 (GRCm39)	N203K	probably benign	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgrl2	G	A	3: 148,523,187 (GRCm39)	L1354F	probably damaging	Het
Aox1	G	T	1: 58,343,597 (GRCm39)	V427L	possibly damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
Bptf	A	T	11: 106,965,302 (GRCm39)	D1182E	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Chct1	A	G	11: 85,064,110 (GRCm39)	S84G	probably damaging	Het
Ciz1	A	G	2: 32,260,075 (GRCm39)	D207G	probably benign	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crabp2	A	T	3: 87,859,484 (GRCm39)	K45*	probably null	Het
Daam1	C	A	12: 71,993,872 (GRCm39)	T425K	unknown	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dlg4	G	C	11: 69,908,051 (GRCm39)	R4T	probably damaging	Het
Fbf1	A	G	11: 116,039,046 (GRCm39)	I743T	probably damaging	Het
Fen1	A	G	19: 10,177,655 (GRCm39)	L263P	probably damaging	Het
G6pc2	A	G	2: 69,050,456 (GRCm39)	N27S	probably damaging	Het
Garnl3	A	T	2: 32,924,723 (GRCm39)	N246K	probably damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Gpr152	A	G	19: 4,192,713 (GRCm39)	T85A	probably benign	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Ighv1-81	C	G	12: 115,883,949 (GRCm39)	E101Q	probably benign	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Myo9a	C	T	9: 59,739,598 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or5an1c	T	C	19: 12,218,860 (GRCm39)	H55R	probably benign	Het
Or6d13	C	T	6: 116,517,807 (GRCm39)	A131V	probably damaging	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Phyh	T	A	2: 4,942,482 (GRCm39)		probably benign	Het
Pkp4	G	T	2: 59,138,449 (GRCm39)	R233M	probably damaging	Het
Plcb1	A	T	2: 135,177,402 (GRCm39)	Q578L	probably benign	Het
Ppil3	A	T	1: 58,473,573 (GRCm39)	N92K	probably benign	Het
Prokr1	C	T	6: 87,565,413 (GRCm39)	R144H	probably damaging	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Sult2a4	T	C	7: 13,723,396 (GRCm39)	T40A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Ttn	A	G	2: 76,663,581 (GRCm39)		probably benign	Het
Vmn2r115	T	A	17: 23,575,998 (GRCm39)	M532K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wipf1	C	T	2: 73,265,293 (GRCm39)	E437K	probably damaging	Het
Wls	G	T	3: 159,603,073 (GRCm39)	C162F	probably damaging	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zfp868	A	G	8: 70,064,736 (GRCm39)	S200P	probably benign	Het

Other mutations in Amer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01844:Amer2	APN	14	60,617,356 (GRCm39)	missense	possibly damaging	0.82
IGL03306:Amer2	APN	14	60,616,001 (GRCm39)	missense	probably damaging	1.00
IGL03382:Amer2	APN	14	60,617,331 (GRCm39)	missense	possibly damaging	0.77
R0365:Amer2	UTSW	14	60,616,984 (GRCm39)	missense	probably damaging	0.99
R0433:Amer2	UTSW	14	60,616,032 (GRCm39)	missense	probably damaging	0.99
R1696:Amer2	UTSW	14	60,617,123 (GRCm39)	missense	possibly damaging	0.65
R1754:Amer2	UTSW	14	60,617,206 (GRCm39)	missense	probably damaging	1.00
R1991:Amer2	UTSW	14	60,617,269 (GRCm39)	missense	probably damaging	0.96
R2018:Amer2	UTSW	14	60,615,894 (GRCm39)	missense	probably damaging	1.00
R2423:Amer2	UTSW	14	60,616,656 (GRCm39)	missense	possibly damaging	0.81
R3160:Amer2	UTSW	14	60,616,000 (GRCm39)	missense	probably damaging	1.00
R3162:Amer2	UTSW	14	60,616,000 (GRCm39)	missense	probably damaging	1.00
R4928:Amer2	UTSW	14	60,616,894 (GRCm39)	missense	possibly damaging	0.92
R4981:Amer2	UTSW	14	60,617,176 (GRCm39)	missense	probably damaging	1.00
R5212:Amer2	UTSW	14	60,617,269 (GRCm39)	missense	probably damaging	0.96
R5535:Amer2	UTSW	14	60,616,302 (GRCm39)	small deletion	probably benign
R5685:Amer2	UTSW	14	60,617,026 (GRCm39)	nonsense	probably null
R6002:Amer2	UTSW	14	60,616,231 (GRCm39)	missense	possibly damaging	0.93
R6247:Amer2	UTSW	14	60,616,321 (GRCm39)	missense	probably damaging	0.96
R6408:Amer2	UTSW	14	60,617,674 (GRCm39)	missense	probably damaging	0.96
R7271:Amer2	UTSW	14	60,617,123 (GRCm39)	missense	possibly damaging	0.65
R7407:Amer2	UTSW	14	60,616,291 (GRCm39)	missense	probably damaging	1.00
R8116:Amer2	UTSW	14	60,616,854 (GRCm39)	missense	probably damaging	1.00
R8122:Amer2	UTSW	14	60,616,791 (GRCm39)	missense	possibly damaging	0.94
R8758:Amer2	UTSW	14	60,616,326 (GRCm39)	missense	probably damaging	0.99
R9005:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00
R9006:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00
R9007:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00
R9016:Amer2	UTSW	14	60,617,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGGACTCGCATTGTGAG -3'
(R):5'- CTGAAGATCCCTTTCAGCCC -3'

Sequencing Primer
(F):5'- CTCGCATTGTGAGTGCGC -3'
(R):5'- CGTTCTTTTTCAGCAGGGAGAAGAAG -3'

Posted On

2015-01-23