Mutagenetix > Incidental Mutation

Incidental Mutation 'R1130:Armc2'

98039

Institutional Source

Beutler Lab

Gene Symbol

Armc2

Ensembl Gene

ENSMUSG00000071324

Gene Name

armadillo repeat containing 2

Synonyms

2610018I05Rik

MMRRC Submission

039203-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1130 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41790986-41894438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41887830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000125583 (fasta)

Gene Model

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

AlphaFold

Q3URY6

Predicted Effect

probably benign
Transcript: ENSMUST00000095729
AA Change: D51G

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: D51G

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

probably benign
Transcript: ENSMUST00000160262
AA Change: D51G

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: D51G

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

probably benign
Transcript: ENSMUST00000161081
AA Change: D51G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125719
Gene: ENSMUSG00000071324
AA Change: D51G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161927
AA Change: D51G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324
AA Change: D51G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162405
AA Change: D51G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125583
Gene: ENSMUSG00000071324
AA Change: D51G

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	T	15: 81,943,561 (GRCm39)	H58Y	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aspm	A	T	1: 139,405,572 (GRCm39)	K1486N	possibly damaging	Het
Aurka	A	T	2: 172,199,178 (GRCm39)		probably null	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cldn20	T	C	17: 3,583,243 (GRCm39)	Y139H	probably damaging	Het
Defb19	C	A	2: 152,418,109 (GRCm39)	E76*	probably null	Het
Fcho2	A	T	13: 98,884,797 (GRCm39)	D423E	probably damaging	Het
Frem1	T	G	4: 82,834,865 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,165,509 (GRCm39)	T333M	probably damaging	Het
Gm9945	T	A	11: 53,371,345 (GRCm39)		probably benign	Het
Gml2	G	A	15: 74,693,195 (GRCm39)	C66Y	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnh2	G	A	5: 24,536,823 (GRCm39)	R254*	probably null	Het
Megf10	T	C	18: 57,395,078 (GRCm39)	V480A	probably benign	Het
Nrde2	A	T	12: 100,091,929 (GRCm39)	M1152K	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Ptprj	A	G	2: 90,283,765 (GRCm39)	V803A	probably damaging	Het
Rxylt1	T	C	10: 121,931,847 (GRCm39)	I109V	possibly damaging	Het
Skint7	T	C	4: 111,841,355 (GRCm39)	I265T	probably benign	Het
Srsf2	A	G	11: 116,743,009 (GRCm39)		probably benign	Het
Tac2	A	G	10: 127,565,371 (GRCm39)	N108D	possibly damaging	Het

Other mutations in Armc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Armc2	UTSW	10	41,823,883 (GRCm39)	splice site	probably benign
R0144:Armc2	UTSW	10	41,823,883 (GRCm39)	splice site	probably benign
R0427:Armc2	UTSW	10	41,876,406 (GRCm39)	missense	possibly damaging	0.87
R0540:Armc2	UTSW	10	41,798,691 (GRCm39)	missense	probably benign	0.11
R0561:Armc2	UTSW	10	41,869,188 (GRCm39)	missense	probably benign	0.02
R0607:Armc2	UTSW	10	41,798,691 (GRCm39)	missense	probably benign	0.11
R1099:Armc2	UTSW	10	41,793,183 (GRCm39)	missense	probably benign	0.39
R2116:Armc2	UTSW	10	41,839,663 (GRCm39)	missense	probably damaging	0.98
R2870:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R2870:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R2871:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R2871:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R2872:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R2872:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R2873:Armc2	UTSW	10	41,842,696 (GRCm39)	critical splice donor site	probably null
R3083:Armc2	UTSW	10	41,842,726 (GRCm39)	missense	probably damaging	1.00
R3771:Armc2	UTSW	10	41,798,223 (GRCm39)	missense	probably damaging	1.00
R3784:Armc2	UTSW	10	41,798,190 (GRCm39)	missense	probably benign	0.08
R3880:Armc2	UTSW	10	41,839,721 (GRCm39)	missense	possibly damaging	0.71
R4024:Armc2	UTSW	10	41,869,054 (GRCm39)	missense	probably benign
R4155:Armc2	UTSW	10	41,887,863 (GRCm39)	missense	probably damaging	0.96
R4370:Armc2	UTSW	10	41,793,196 (GRCm39)	missense	probably benign	0.13
R4378:Armc2	UTSW	10	41,869,078 (GRCm39)	missense	possibly damaging	0.66
R4896:Armc2	UTSW	10	41,799,790 (GRCm39)	missense	probably damaging	1.00
R5119:Armc2	UTSW	10	41,798,144 (GRCm39)	missense	probably damaging	1.00
R5159:Armc2	UTSW	10	41,884,711 (GRCm39)	missense	probably damaging	0.96
R5517:Armc2	UTSW	10	41,839,846 (GRCm39)	missense	probably benign	0.29
R5640:Armc2	UTSW	10	41,887,894 (GRCm39)	missense	possibly damaging	0.87
R5767:Armc2	UTSW	10	41,887,923 (GRCm39)	missense	probably benign	0.02
R5965:Armc2	UTSW	10	41,798,568 (GRCm39)	missense	possibly damaging	0.94
R6897:Armc2	UTSW	10	41,869,225 (GRCm39)	critical splice acceptor site	probably null
R7233:Armc2	UTSW	10	41,799,800 (GRCm39)	missense	probably damaging	1.00
R7829:Armc2	UTSW	10	41,802,856 (GRCm39)	missense	probably benign
R7832:Armc2	UTSW	10	41,842,792 (GRCm39)	missense	probably damaging	1.00
R7999:Armc2	UTSW	10	41,887,954 (GRCm39)	missense	possibly damaging	0.62
R8029:Armc2	UTSW	10	41,802,996 (GRCm39)	missense	probably damaging	1.00
R8030:Armc2	UTSW	10	41,842,738 (GRCm39)	missense	possibly damaging	0.73
R8033:Armc2	UTSW	10	41,884,680 (GRCm39)	missense	possibly damaging	0.87
R8191:Armc2	UTSW	10	41,839,747 (GRCm39)	missense	probably benign	0.29
R8304:Armc2	UTSW	10	41,823,935 (GRCm39)	missense	probably damaging	1.00
R8334:Armc2	UTSW	10	41,799,761 (GRCm39)	missense	probably damaging	1.00
R8370:Armc2	UTSW	10	41,799,833 (GRCm39)	missense	possibly damaging	0.96
R9142:Armc2	UTSW	10	41,851,404 (GRCm39)	missense	probably benign	0.00
R9227:Armc2	UTSW	10	41,823,935 (GRCm39)	missense	probably damaging	1.00
R9230:Armc2	UTSW	10	41,823,935 (GRCm39)	missense	probably damaging	1.00
R9320:Armc2	UTSW	10	41,839,774 (GRCm39)	missense	possibly damaging	0.85
R9708:Armc2	UTSW	10	41,839,744 (GRCm39)	missense	possibly damaging	0.87
R9743:Armc2	UTSW	10	41,798,598 (GRCm39)	missense	probably benign	0.25
R9746:Armc2	UTSW	10	41,800,457 (GRCm39)	missense	probably damaging	1.00
Z1176:Armc2	UTSW	10	41,839,652 (GRCm39)	missense	probably damaging	1.00
Z1176:Armc2	UTSW	10	41,803,040 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-05