Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Actn2'

388565

Institutional Source

Beutler Lab

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

1110008F24Rik

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12284312-12355613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12303408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 464 (I464T)

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: I464T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: I464T

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

possibly damaging
Transcript: ENSMUST00000168193
AA Change: I464T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: I464T

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

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	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
R1983:Actn2	UTSW	13	12,293,696 (GRCm39)	missense	probably benign	0.00
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
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'- AATCATCATCCCTAGGGGCAG -3'
(R):5'- TACATCCTAGGCAAGCCCTC -3'

Sequencing Primer
(F):5'- AGCAGCCTGACCCTTTGAG -3'
(R):5'- CCAGGCTGTCCTTGAACTGTAG -3'

Posted On

2016-06-06