Mutagenetix > Incidental Mutations

Incidental Mutation 'R3083:Armc2'

264071

Institutional Source

Beutler Lab

Gene Symbol

Armc2

Ensembl Gene

ENSMUSG00000071324

Gene Name

armadillo repeat containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41914990-42018442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41966730 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 359 (D359G)

Ref Sequence

ENSEMBL: ENSMUSP00000125412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095729] [ENSMUST00000160262] [ENSMUST00000161927]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095729
AA Change: D359G

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

SMART Domains

Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: D359G

Domain	Start	End	E-Value	Type
low complexity region	58	73	N/A	INTRINSIC
low complexity region	222	237	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	324	336	N/A	INTRINSIC
ARM	355	393	7.53e1	SMART
ARM	400	453	3.69e1	SMART
ARM	454	496	8.23e1	SMART
Blast:ARM	497	540	1e-16	BLAST
Blast:ARM	542	603	1e-6	BLAST
Blast:ARM	603	649	7e-20	BLAST
Blast:ARM	653	692	3e-8	BLAST
ARM	693	733	4.41e1	SMART
ARM	734	777	2.7e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105503

Predicted Effect

probably damaging
Transcript: ENSMUST00000160262
AA Change: D359G

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

SMART Domains

Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: D359G

Domain	Start	End	E-Value	Type
low complexity region	58	73	N/A	INTRINSIC
low complexity region	222	237	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	324	336	N/A	INTRINSIC
ARM	355	393	7.53e1	SMART
ARM	400	453	3.69e1	SMART
ARM	454	496	8.23e1	SMART
Blast:ARM	497	540	1e-16	BLAST
Blast:ARM	542	603	1e-6	BLAST
Blast:ARM	603	649	7e-20	BLAST
Blast:ARM	653	692	3e-8	BLAST
ARM	693	733	4.41e1	SMART
ARM	734	777	2.7e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160367

Predicted Effect

probably benign
Transcript: ENSMUST00000161927

SMART Domains

Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324

Domain	Start	End	E-Value	Type
low complexity region	58	75	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 107,023,715	V341A	possibly damaging	Het
Cdh6	T	C	15: 13,044,752	D428G	probably damaging	Het
Dennd4a	A	G	9: 64,906,081	N1441D	probably benign	Het
Fbln1	T	G	15: 85,265,253	I617S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm15446	A	G	5: 109,943,292	N470S	possibly damaging	Het
Grin3a	G	A	4: 49,665,243	R1131W	probably benign	Het
Hist3h2ba	A	G	11: 58,948,976	K13E	probably benign	Het
Incenp	T	A	19: 9,883,779	M480L	unknown	Het
Lrp1b	A	T	2: 40,600,324	M275K	probably damaging	Het
Lrrc14b	C	T	13: 74,363,218	D248N	possibly damaging	Het
Nlrp5	T	C	7: 23,430,163	F885S	probably benign	Het
Olfr102	T	C	17: 37,314,195	N63S	probably damaging	Het
Olfr1228	A	C	2: 89,249,001	V231G	probably damaging	Het
Olfr917	A	G	9: 38,665,616	V76A	probably damaging	Het
Plcl2	T	A	17: 50,687,744	N1080K	probably benign	Het
Rab3gap2	T	A	1: 185,204,269	S10T	probably benign	Het
Rtca	G	A	3: 116,508,025		probably benign	Het
Scn1a	A	G	2: 66,299,637	F1278S	probably damaging	Het
Slitrk3	T	C	3: 73,048,595	D948G	probably benign	Het
Smu1	T	C	4: 40,745,567	D251G	probably damaging	Het
Ssh3	C	T	19: 4,262,559	R586H	probably benign	Het
Tomm40l	A	T	1: 171,221,211	L78H	probably damaging	Het
Vmn2r4	A	G	3: 64,389,367	S666P	probably damaging	Het

Other mutations in Armc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Armc2	UTSW	10	41947887	splice site	probably benign
R0144:Armc2	UTSW	10	41947887	splice site	probably benign
R0427:Armc2	UTSW	10	42000410	missense	possibly damaging	0.87
R0540:Armc2	UTSW	10	41922695	missense	probably benign	0.11
R0561:Armc2	UTSW	10	41993192	missense	probably benign	0.02
R0607:Armc2	UTSW	10	41922695	missense	probably benign	0.11
R1099:Armc2	UTSW	10	41917187	missense	probably benign	0.39
R1130:Armc2	UTSW	10	42011834	missense	possibly damaging	0.85
R2116:Armc2	UTSW	10	41963667	missense	probably damaging	0.98
R2870:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R2870:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R2871:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R2871:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R2872:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R2872:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R2873:Armc2	UTSW	10	41966700	critical splice donor site	probably null
R3771:Armc2	UTSW	10	41922227	missense	probably damaging	1.00
R3784:Armc2	UTSW	10	41922194	missense	probably benign	0.08
R3880:Armc2	UTSW	10	41963725	missense	possibly damaging	0.71
R4024:Armc2	UTSW	10	41993058	missense	probably benign
R4155:Armc2	UTSW	10	42011867	missense	probably damaging	0.96
R4370:Armc2	UTSW	10	41917200	missense	probably benign	0.13
R4378:Armc2	UTSW	10	41993082	missense	possibly damaging	0.66
R4896:Armc2	UTSW	10	41923794	missense	probably damaging	1.00
R5119:Armc2	UTSW	10	41922148	missense	probably damaging	1.00
R5159:Armc2	UTSW	10	42008715	missense	probably damaging	0.96
R5517:Armc2	UTSW	10	41963850	missense	probably benign	0.29
R5640:Armc2	UTSW	10	42011898	missense	possibly damaging	0.87
R5767:Armc2	UTSW	10	42011927	missense	probably benign	0.02
R5965:Armc2	UTSW	10	41922572	missense	possibly damaging	0.94
R6897:Armc2	UTSW	10	41993229	critical splice acceptor site	probably null
R7233:Armc2	UTSW	10	41923804	missense	probably damaging	1.00
R7829:Armc2	UTSW	10	41926860	missense	probably benign
R7832:Armc2	UTSW	10	41966796	missense	probably damaging	1.00
R7999:Armc2	UTSW	10	42011958	missense	possibly damaging	0.62
R8029:Armc2	UTSW	10	41927000	missense	probably damaging	1.00
R8030:Armc2	UTSW	10	41966742	missense	possibly damaging	0.73
R8033:Armc2	UTSW	10	42008684	missense	possibly damaging	0.87
R8191:Armc2	UTSW	10	41963751	missense	probably benign	0.29
R8304:Armc2	UTSW	10	41947939	missense	probably damaging	1.00
R8334:Armc2	UTSW	10	41923765	missense	probably damaging	1.00
R8370:Armc2	UTSW	10	41923837	missense	possibly damaging	0.96
Z1176:Armc2	UTSW	10	41927044	missense	probably damaging	1.00
Z1176:Armc2	UTSW	10	41963656	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGCTGGTCACAGTAGACTC -3'
(R):5'- AGGTGGCCTAAACCTTCCTAGG -3'

Sequencing Primer
(F):5'- TGAGCTGGTCACAGTAGACTCTAAAC -3'
(R):5'- GAACGTTTCTCATGTTTTAAACCC -3'

Posted On

2015-02-05