Mutagenetix > Incidental Mutation

Incidental Mutation 'R4155:Armc2'

315097

Institutional Source

Beutler Lab

Gene Symbol

Armc2

Ensembl Gene

ENSMUSG00000071324

Gene Name

armadillo repeat containing 2

Synonyms

MMRRC Submission

040999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41914990-42018442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42011867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

Ref Sequence

ENSEMBL: ENSMUSP00000125583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095729] [ENSMUST00000160262] [ENSMUST00000161081] [ENSMUST00000161927] [ENSMUST00000162405]

AlphaFold

Q3URY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095729
AA Change: V40A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: V40A

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

possibly damaging
Transcript: ENSMUST00000160262
AA Change: V40A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: V40A

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

possibly damaging
Transcript: ENSMUST00000161081
AA Change: V40A

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125719
Gene: ENSMUSG00000071324
AA Change: V40A

Domain	Start	End	E-Value	Type
low complexity region	58	73	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161927
AA Change: V40A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324
AA Change: V40A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162405
AA Change: V40A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125583
Gene: ENSMUSG00000071324
AA Change: V40A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,938,263	F69I	possibly damaging	Het
Akt3	A	G	1: 177,096,977	I184T	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Ash2l	A	G	8: 25,817,454	Y485H	probably damaging	Het
Atr	T	A	9: 95,888,124	C1202*	probably null	Het
Bcl11b	A	T	12: 107,917,425		probably null	Het
Birc6	C	A	17: 74,596,939	S1242R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,904		probably benign	Het
Bsx	A	G	9: 40,876,336	E102G	probably benign	Het
Casq2	A	T	3: 102,133,102		probably null	Het
Ccpg1	C	A	9: 73,012,167	Q355K	probably benign	Het
Copa	T	G	1: 172,101,425	N251K	probably damaging	Het
Cst8	C	A	2: 148,800,076	A31E	possibly damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Ecd	A	G	14: 20,324,564	S503P	probably damaging	Het
Fam155a	T	A	8: 9,233,023	Y342F	possibly damaging	Het
Fbn2	C	A	18: 58,023,287	E2487*	probably null	Het
Hoxd9	A	G	2: 74,699,323	I308V	probably benign	Het
Ica1l	G	A	1: 60,013,893	A162V	possibly damaging	Het
Kcnj15	A	T	16: 95,296,307	K263*	probably null	Het
Mettl4	T	C	17: 94,740,575	M213V	probably benign	Het
Ncan	C	A	8: 70,110,077	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,307,854	S129R	probably benign	Het
Olfr1262	A	G	2: 90,002,660	S85G	probably benign	Het
Olfr305	T	A	7: 86,364,062	I92L	probably benign	Het
Olfr601	T	C	7: 103,359,156	T13A	probably benign	Het
Olfr933	A	T	9: 38,976,155	T160S	probably damaging	Het
P2rx5	A	G	11: 73,171,829	T455A	probably damaging	Het
Pcdh1	T	A	18: 38,203,106	T159S	probably damaging	Het
Poln	A	G	5: 34,009,649	V755A	possibly damaging	Het
Pou4f1	C	T	14: 104,467,717	S6N	possibly damaging	Het
Rpap1	C	T	2: 119,774,179	R416H	probably damaging	Het
Samd4	T	A	14: 47,052,946	M170K	possibly damaging	Het
Srgn	A	G	10: 62,497,834	F55L	possibly damaging	Het
Tmcc1	C	T	6: 116,133,804	G176D	probably benign	Het
Tmem232	A	T	17: 65,436,333	M321K	probably damaging	Het
Tnfsf11	A	G	14: 78,299,869	M118T	probably benign	Het
Tns1	T	A	1: 73,914,631	N1848Y	probably damaging	Het
Ttc27	T	G	17: 74,840,460	I669S	probably benign	Het
Uaca	A	G	9: 60,871,753	S1141G	probably benign	Het
Usp34	T	A	11: 23,417,676	V1671E	probably damaging	Het
Wdr64	T	A	1: 175,769,606	L73H	probably benign	Het
Zfp410	G	A	12: 84,327,432	R181H	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
R3083:Armc2	UTSW	10	41966730	missense	probably damaging	1.00
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
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
R9142:Armc2	UTSW	10	41975408	missense	probably benign	0.00
R9227:Armc2	UTSW	10	41947939	missense	probably damaging	1.00
R9230:Armc2	UTSW	10	41947939	missense	probably damaging	1.00
R9320:Armc2	UTSW	10	41963778	missense	possibly damaging	0.85
R9708:Armc2	UTSW	10	41963748	missense	possibly damaging	0.87
R9743:Armc2	UTSW	10	41922602	missense	probably benign	0.25
R9746:Armc2	UTSW	10	41924461	missense	probably damaging	1.00
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'- CATGATGCATGGGTTAGCAAAG -3'
(R):5'- TACGGATGGGTGCCTCTCTTTC -3'

Sequencing Primer
(F):5'- TGCATGGGTTAGCAAAGGGAAG -3'
(R):5'- GATGGGTGCCTCTCTTTCTAAAATAC -3'

Posted On

2015-05-14