Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Armc2'

253598

Institutional Source

Beutler Lab

Gene Symbol

Armc2

Ensembl Gene

ENSMUSG00000071324

Gene Name

armadillo repeat containing 2

Synonyms

2610018I05Rik

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41790986-41894438 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 41842696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125412 (fasta)

Gene Model

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

AlphaFold

Q3URY6

Predicted Effect

probably null
Transcript: ENSMUST00000095729

SMART Domains

Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324

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 null
Transcript: ENSMUST00000095729

SMART Domains

Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324

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 null
Transcript: ENSMUST00000160262

SMART Domains

Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324

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 null
Transcript: ENSMUST00000160262

SMART Domains

Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324

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

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mmp1b	A	T	9: 7,386,875 (GRCm39)		silent	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	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
R1130:Armc2	UTSW	10	41,887,830 (GRCm39)	missense	possibly damaging	0.85
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
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

PCR Primer
(F):5'- TGTCATTAGGTCCCACCACATC -3'
(R):5'- TACCCTGAGTGTGGAGGTCTTC -3'

Sequencing Primer
(F):5'- ACTGAGCTGGTCACAGTAGACTC -3'
(R):5'- AGGTCTTCAAGGTGCCAGG -3'

Posted On

2014-12-04