Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Amer2'

565320

Institutional Source

Beutler Lab

Gene Symbol

Amer2

Ensembl Gene

ENSMUSG00000021986

Gene Name

APC membrane recruitment 2

Synonyms

Fam123a, Amer2, 2600011E07Rik

MMRRC Submission

045356-MU

Accession Numbers

Essential gene?

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

Stock #

R7271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60615141-60625642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60617123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 439 (D439E)

Ref Sequence

ENSEMBL: ENSMUSP00000022561 (fasta)

Gene Model

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

AlphaFold

Q8CCJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022561
AA Change: D439E

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022561
Gene: ENSMUSG00000021986
AA Change: D439E

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 benign
Transcript: ENSMUST00000224957

Predicted Effect

probably benign
Transcript: ENSMUST00000225247
AA Change: D313E

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	C	T	10: 42,291,544 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alpk3	A	G	7: 80,728,202 (GRCm39)	E444G	possibly damaging	Het
Ano6	A	G	15: 95,811,781 (GRCm39)	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,421,944 (GRCm39)	K827Q	probably benign	Het
Atp9a	G	A	2: 168,576,047 (GRCm39)			Het
Casp7	T	A	19: 56,424,793 (GRCm39)	C171S	probably damaging	Het
Ccdc9b	T	A	2: 118,591,164 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdkl1	A	G	12: 69,795,585 (GRCm39)	L315S	probably benign	Het
Cfap91	A	G	16: 38,148,708 (GRCm39)	I240T	probably damaging	Het
Crybg1	G	T	10: 43,873,619 (GRCm39)	S1163*	probably null	Het
Csmd1	A	T	8: 17,077,295 (GRCm39)	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,262,493 (GRCm39)	M88K	possibly damaging	Het
Dlc1	T	C	8: 37,049,954 (GRCm39)	Q587R	probably damaging	Het
Dock2	T	C	11: 34,223,750 (GRCm39)	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,374,320 (GRCm39)	T69S	possibly damaging	Het
Esr1	T	C	10: 4,733,874 (GRCm39)	C225R	probably damaging	Het
Fbxo31	C	T	8: 122,305,503 (GRCm39)		probably benign	Het
Fndc11	G	A	2: 180,863,893 (GRCm39)	V233I	possibly damaging	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gtf2ird1	A	G	5: 134,433,758 (GRCm39)	L223P	probably benign	Het
Ifi214	A	T	1: 173,357,042 (GRCm39)	H20Q	probably damaging	Het
Impa2	T	A	18: 67,439,806 (GRCm39)	I101N	probably damaging	Het
Kidins220	A	T	12: 25,061,570 (GRCm39)	T854S	probably benign	Het
Lamb1	T	A	12: 31,337,423 (GRCm39)	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,755,853 (GRCm39)	S543G	probably benign	Het
Manba	A	T	3: 135,248,137 (GRCm39)	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,893,231 (GRCm39)	D758G	probably benign	Het
Mtor	G	T	4: 148,630,942 (GRCm39)	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409 (GRCm39)	M793K	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Or10ab4	G	A	7: 107,654,423 (GRCm39)	R78Q	probably damaging	Het
Or10ag55-ps1	T	A	2: 87,114,725 (GRCm39)	N30K	probably benign	Het
Or4k77	A	G	2: 111,199,693 (GRCm39)	T239A	probably damaging	Het
Or8g21	A	T	9: 38,905,953 (GRCm39)	Y259*	probably null	Het
Pcdh12	C	A	18: 38,416,100 (GRCm39)	V342F	probably damaging	Het
Pcdhb4	T	A	18: 37,441,222 (GRCm39)	H177Q	possibly damaging	Het
Pcnx2	G	A	8: 126,613,690 (GRCm39)	A587V	probably benign	Het
Phkb	C	T	8: 86,770,418 (GRCm39)	P896S	probably damaging	Het
Prss36	A	G	7: 127,543,877 (GRCm39)	S165P	probably benign	Het
Prss43	A	G	9: 110,657,671 (GRCm39)	D190G	probably damaging	Het
Psmd14	T	C	2: 61,591,356 (GRCm39)	V53A	probably damaging	Het
Sel1l3	T	G	5: 53,273,704 (GRCm39)	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,500,631 (GRCm39)	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,378,617 (GRCm39)	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,899,288 (GRCm39)	E262G	probably benign	Het
Slc7a14	A	G	3: 31,278,384 (GRCm39)	L407P	probably damaging	Het
Smyd4	T	C	11: 75,281,325 (GRCm39)	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,913 (GRCm39)	R738S	probably benign	Het
Speer4a2	G	A	5: 26,292,993 (GRCm39)	T67I	probably benign	Het
Srcin1	C	T	11: 97,442,715 (GRCm39)	G38S	probably damaging	Het
Stab2	A	T	10: 86,838,972 (GRCm39)		probably null	Het
Syde2	A	G	3: 145,726,031 (GRCm39)	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,850,611 (GRCm39)	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,727,820 (GRCm39)	I861F	possibly damaging	Het
Zfp319	G	A	8: 96,058,471 (GRCm39)		probably benign	Het
Zfp518b	T	C	5: 38,831,907 (GRCm39)	N33D	probably benign	Het
Zfp874a	T	A	13: 67,591,415 (GRCm39)	I90F	probably benign	Het
Zmiz2	G	T	11: 6,349,593 (GRCm39)	V412L	probably damaging	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
R3161: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
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'- ACTCTCTTACAGGCTGTGGAG -3'
(R):5'- GGCTTGCTTCAGGTTCAACG -3'

Sequencing Primer
(F):5'- CTGTGGAGATATTATTGCAGACCCAG -3'
(R):5'- CTTCAGGTTCAACGTAGAGATCGC -3'

Posted On

2019-06-26