Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Actn2'

220199

Institutional Source

Beutler Lab

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

1110008F24Rik

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12284312-12355613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12293696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 608 (R608H)

Ref Sequence

ENSEMBL: ENSMUSP00000129609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064204] [ENSMUST00000168193] [ENSMUST00000221162]

AlphaFold

Q9JI91

Predicted Effect

probably benign
Transcript: ENSMUST00000064204
AA Change: R608H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: R608H

Domain	Start	End	E-Value	Type
CH	40	140	5.22e-23	SMART
CH	153	252	1.77e-25	SMART
low complexity region	255	266	N/A	INTRINSIC
Pfam:Spectrin	281	391	2e-16	PFAM
SPEC	404	505	5.81e-24	SMART
SPEC	519	626	6.75e-11	SMART
SPEC	640	739	1.26e0	SMART
EFh	757	785	8.16e-1	SMART
EFh	793	821	7.7e-3	SMART
efhand_Ca_insen	824	890	3.9e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168193
AA Change: R608H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: R608H

Domain	Start	End	E-Value	Type
CH	40	140	5.22e-23	SMART
CH	153	252	1.77e-25	SMART
low complexity region	255	266	N/A	INTRINSIC
Pfam:Spectrin	281	391	7e-18	PFAM
SPEC	404	505	5.81e-24	SMART
SPEC	519	626	6.75e-11	SMART
SPEC	640	739	1.26e0	SMART
EFh	757	785	8.16e-1	SMART
EFh	793	821	7.7e-3	SMART
efhand_Ca_insen	824	890	3.9e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221162
AA Change: R114H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222034

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Btbd3	T	G	2: 138,125,608 (GRCm39)	L264R	probably damaging	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,716,312 (GRCm39)	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai1	A	G	4: 41,603,232 (GRCm39)	K172E	probably benign	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Kif11	C	T	19: 37,379,224 (GRCm39)	T305I	possibly damaging	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Or8k27	T	A	2: 86,275,420 (GRCm39)	H302L	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Terf2	T	C	8: 107,809,640 (GRCm39)	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	possibly damaging	Het

Other mutations in Actn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Actn2	APN	13	12,325,796 (GRCm39)	missense	possibly damaging	0.50
IGL01909:Actn2	APN	13	12,324,479 (GRCm39)	critical splice donor site	probably null
IGL01994:Actn2	APN	13	12,305,563 (GRCm39)	missense	probably benign	0.26
IGL02118:Actn2	APN	13	12,291,433 (GRCm39)	intron	probably benign
IGL02480:Actn2	APN	13	12,291,364 (GRCm39)	missense	probably benign	0.02
IGL02827:Actn2	APN	13	12,290,085 (GRCm39)	missense	probably damaging	1.00
IGL03110:Actn2	APN	13	12,324,493 (GRCm39)	missense	probably benign	0.02
R0044:Actn2	UTSW	13	12,290,013 (GRCm39)	missense	possibly damaging	0.51
R0512:Actn2	UTSW	13	12,292,301 (GRCm39)	missense	probably damaging	1.00
R1623:Actn2	UTSW	13	12,355,320 (GRCm39)	missense	probably benign
R1989:Actn2	UTSW	13	12,355,276 (GRCm39)	missense	probably benign	0.38
R2148:Actn2	UTSW	13	12,315,835 (GRCm39)	missense	probably damaging	0.99
R2196:Actn2	UTSW	13	12,290,065 (GRCm39)	missense	probably damaging	0.99
R2254:Actn2	UTSW	13	12,311,365 (GRCm39)	missense	probably benign	0.20
R2850:Actn2	UTSW	13	12,290,065 (GRCm39)	missense	probably damaging	0.99
R4391:Actn2	UTSW	13	12,305,634 (GRCm39)	missense	probably damaging	0.99
R4396:Actn2	UTSW	13	12,325,765 (GRCm39)	missense	probably damaging	1.00
R4758:Actn2	UTSW	13	12,303,472 (GRCm39)	nonsense	probably null
R5068:Actn2	UTSW	13	12,303,408 (GRCm39)	missense	possibly damaging	0.78
R5069:Actn2	UTSW	13	12,303,408 (GRCm39)	missense	possibly damaging	0.78
R5070:Actn2	UTSW	13	12,303,408 (GRCm39)	missense	possibly damaging	0.78
R5228:Actn2	UTSW	13	12,303,545 (GRCm39)	critical splice acceptor site	probably null
R5382:Actn2	UTSW	13	12,323,837 (GRCm39)	missense	probably benign	0.37
R5408:Actn2	UTSW	13	12,285,681 (GRCm39)	missense	probably benign	0.41
R5975:Actn2	UTSW	13	12,355,378 (GRCm39)	missense	probably benign	0.43
R6189:Actn2	UTSW	13	12,291,326 (GRCm39)	missense	probably damaging	1.00
R6226:Actn2	UTSW	13	12,293,853 (GRCm39)	missense	probably benign
R6498:Actn2	UTSW	13	12,291,359 (GRCm39)	missense	probably damaging	1.00
R7094:Actn2	UTSW	13	12,324,543 (GRCm39)	missense	probably damaging	1.00
R7164:Actn2	UTSW	13	12,293,847 (GRCm39)	missense	probably damaging	1.00
R7218:Actn2	UTSW	13	12,293,799 (GRCm39)	missense	probably benign	0.33
R7260:Actn2	UTSW	13	12,291,376 (GRCm39)	missense	probably benign	0.00
R7768:Actn2	UTSW	13	12,297,480 (GRCm39)	missense	possibly damaging	0.72
R7896:Actn2	UTSW	13	12,309,203 (GRCm39)	missense	possibly damaging	0.76
R8141:Actn2	UTSW	13	12,303,516 (GRCm39)	missense	probably damaging	1.00
R8702:Actn2	UTSW	13	12,297,415 (GRCm39)	missense	probably damaging	1.00
R8785:Actn2	UTSW	13	12,292,317 (GRCm39)	missense	probably benign	0.02
R9028:Actn2	UTSW	13	12,315,864 (GRCm39)	missense	possibly damaging	0.90
R9099:Actn2	UTSW	13	12,303,516 (GRCm39)	missense	probably damaging	1.00
R9517:Actn2	UTSW	13	12,295,317 (GRCm39)	missense	probably damaging	0.97
X0018:Actn2	UTSW	13	12,284,531 (GRCm39)	missense	probably damaging	1.00
Z1177:Actn2	UTSW	13	12,303,448 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTCTAAGCCTATCTCAATCC -3'
(R):5'- AGAGTCTGATCACTGCACATG -3'

Sequencing Primer
(F):5'- GGATTAGATTTAGGTCCCCAGAC -3'
(R):5'- TGAGCAGTTCAAGGCCAC -3'

Posted On

2014-08-25