Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Actn2'

88195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

12269426-12340760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12310910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 60 (E60K)

Ref Sequence

ENSEMBL: ENSMUSP00000129609 (fasta)

Gene Model

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

AlphaFold

Q9JI91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064204
AA Change: E60K

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: E60K

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

noncoding transcript
Transcript: ENSMUST00000110616

SMART Domains

Protein: ENSMUSP00000106246
Gene: ENSMUSG00000052374

Domain	Start	End	E-Value	Type
CH	40	140	5.22e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168193
AA Change: E60K

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: E60K

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

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Actn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Actn2	APN	13	12309593	critical splice donor site	probably null
IGL01994:Actn2	APN	13	12290677	missense	probably benign	0.26
IGL02118:Actn2	APN	13	12276547	intron	probably benign
IGL02480:Actn2	APN	13	12276478	missense	probably benign	0.02
IGL02827:Actn2	APN	13	12275199	missense	probably damaging	1.00
IGL03110:Actn2	APN	13	12309607	missense	probably benign	0.02
R0044:Actn2	UTSW	13	12275127	missense	possibly damaging	0.51
R0512:Actn2	UTSW	13	12277415	missense	probably damaging	1.00
R1623:Actn2	UTSW	13	12340439	missense	probably benign
R1983:Actn2	UTSW	13	12278810	missense	probably benign	0.00
R1989:Actn2	UTSW	13	12340395	missense	probably benign	0.38
R2148:Actn2	UTSW	13	12300949	missense	probably damaging	0.99
R2196:Actn2	UTSW	13	12275179	missense	probably damaging	0.99
R2254:Actn2	UTSW	13	12296479	missense	probably benign	0.20
R2850:Actn2	UTSW	13	12275179	missense	probably damaging	0.99
R4391:Actn2	UTSW	13	12290748	missense	probably damaging	0.99
R4396:Actn2	UTSW	13	12310879	missense	probably damaging	1.00
R4758:Actn2	UTSW	13	12288586	nonsense	probably null
R5068:Actn2	UTSW	13	12288522	missense	possibly damaging	0.78
R5069:Actn2	UTSW	13	12288522	missense	possibly damaging	0.78
R5070:Actn2	UTSW	13	12288522	missense	possibly damaging	0.78
R5228:Actn2	UTSW	13	12288659	critical splice acceptor site	probably null
R5382:Actn2	UTSW	13	12308951	missense	probably benign	0.37
R5408:Actn2	UTSW	13	12270795	missense	probably benign	0.41
R5975:Actn2	UTSW	13	12340497	missense	probably benign	0.43
R6189:Actn2	UTSW	13	12276440	missense	probably damaging	1.00
R6226:Actn2	UTSW	13	12278967	missense	probably benign
R6498:Actn2	UTSW	13	12276473	missense	probably damaging	1.00
R7094:Actn2	UTSW	13	12309657	missense	probably damaging	1.00
R7164:Actn2	UTSW	13	12278961	missense	probably damaging	1.00
R7218:Actn2	UTSW	13	12278913	missense	probably benign	0.33
R7260:Actn2	UTSW	13	12276490	missense	probably benign	0.00
R7768:Actn2	UTSW	13	12282594	missense	possibly damaging	0.72
R7896:Actn2	UTSW	13	12294317	missense	possibly damaging	0.76
R8141:Actn2	UTSW	13	12288630	missense	probably damaging	1.00
R8702:Actn2	UTSW	13	12282529	missense	probably damaging	1.00
R8785:Actn2	UTSW	13	12277431	missense	probably benign	0.02
R9028:Actn2	UTSW	13	12300978	missense	possibly damaging	0.90
R9099:Actn2	UTSW	13	12288630	missense	probably damaging	1.00
X0018:Actn2	UTSW	13	12269645	missense	probably damaging	1.00
Z1177:Actn2	UTSW	13	12288562	missense	probably damaging	1.00

Posted On

2013-11-18