Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Armc2'

616275

Institutional Source

Beutler Lab

Gene Symbol

Armc2

Ensembl Gene

ENSMUSG00000071324

Gene Name

armadillo repeat containing 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41914990-42018442 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42011958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 10 (E10K)

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: E10K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: E10K

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: E10K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: E10K

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: E10K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125719
Gene: ENSMUSG00000071324
AA Change: E10K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161927
AA Change: E10K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324
AA Change: E10K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162405
AA Change: E10K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125583
Gene: ENSMUSG00000071324
AA Change: E10K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,737,452	V753L	probably benign	Het
Ahi1	A	G	10: 20,965,681	E289G	probably benign	Het
AI481877	G	C	4: 59,094,162	F187L	probably benign	Het
Aspscr1	T	C	11: 120,678,522		probably null	Het
B3galnt1	A	G	3: 69,575,215	C238R	probably damaging	Het
Bak1	A	G	17: 27,021,306	L129P	probably damaging	Het
Bdp1	A	G	13: 100,058,896	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,459,889		probably null	Het
Cacna1b	A	T	2: 24,650,626	V1363E	probably damaging	Het
Capn11	T	C	17: 45,639,206	N344S	probably damaging	Het
Ces1f	A	T	8: 93,262,995	V431E	possibly damaging	Het
Cog3	G	T	14: 75,747,093	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,326,843	S45T	probably benign	Het
Dnah10	A	G	5: 124,725,258	D32G	probably benign	Het
Dnajc24	T	A	2: 105,981,020	N70I	probably damaging	Het
Duox2	C	T	2: 122,283,467	V1195I	probably benign	Het
E430018J23Rik	T	A	7: 127,392,428	S117C	probably damaging	Het
Enam	A	T	5: 88,503,702	R1023S	probably benign	Het
Ephx4	A	T	5: 107,419,833	Q219L	probably damaging	Het
Eppk1	T	C	15: 76,109,004	T1226A	probably benign	Het
Eppk1	T	C	15: 76,109,135	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,008,998	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,029,645	R63C	probably benign	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gsdmd	T	A	15: 75,863,446	I13N	probably damaging	Het
Gtpbp4	T	C	13: 8,987,286	D292G	probably damaging	Het
Hnf1a	A	T	5: 114,960,174	L123*	probably null	Het
Ints11	A	G	4: 155,886,956	D309G	probably benign	Het
Ints5	T	C	19: 8,897,043	S789P	probably benign	Het
Jakmip2	G	A	18: 43,563,333	A517V	probably benign	Het
Kat7	A	G	11: 95,284,109	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,576,774	S1767P	probably damaging	Het
Lonp2	A	G	8: 86,634,909	D238G	probably benign	Het
Lrfn3	A	G	7: 30,360,024	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,397,922	D250N	probably benign	Het
Mre11a	A	T	9: 14,799,669	R49*	probably null	Het
Mug1	T	C	6: 121,880,896	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,418,203	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,385,489	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,948,999	V85A	probably damaging	Het
Olfr1252	A	G	2: 89,722,000	I37T	probably benign	Het
Prl3d2	A	G	13: 27,123,966	T77A	probably benign	Het
Prpsap1	A	T	11: 116,490,216	M1K	probably null	Het
Prrc2b	C	T	2: 32,194,414	T297M	probably damaging	Het
Rasa3	A	G	8: 13,631,805	F48S	probably benign	Het
Rbm24	A	T	13: 46,419,031	M1L	possibly damaging	Het
Ren1	C	A	1: 133,354,866	T103K	probably damaging	Het
Rpf2	C	T	10: 40,223,884	G260S	probably damaging	Het
Sall4	C	T	2: 168,752,641	G862D	probably damaging	Het
Samd4	G	T	14: 47,064,247	R336L	probably damaging	Het
Siglec1	T	C	2: 131,071,163	N1611S	probably benign	Het
Skil	A	G	3: 31,097,602	H91R	possibly damaging	Het
Snip1	T	C	4: 125,071,381	V193A	probably benign	Het
Sp2	A	T	11: 96,961,837	I87N	probably damaging	Het
Syna	T	C	5: 134,559,192	H301R	probably benign	Het
Tdg	A	G	10: 82,641,382	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902		probably null	Het
Trak1	G	A	9: 121,460,425	R601H	probably damaging	Het
Triobp	T	C	15: 78,959,944	L120P	probably damaging	Het
Utp20	A	T	10: 88,770,388	N1697K	probably benign	Het
Uts2r	G	A	11: 121,160,669	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,832	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,461,823	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,417,211	C90*	probably null	Het
Zfp605	T	A	5: 110,128,434	C473S	probably damaging	Het
Zfp975	A	T	7: 42,662,932	Y86N	probably benign	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
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
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'- GGGAACATGTAACCTGGTGG -3'
(R):5'- CTCCTGGCTGTATGTATAGAGTAG -3'

Sequencing Primer
(F):5'- ACAGCCAGGCGTAAGTACCTG -3'
(R):5'- AGTAGTAGCTTAGTATACGGATGGG -3'

Posted On

2020-01-23