Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Actn2'

561610

Institutional Source

Beutler Lab

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

1110008F24Rik

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12284312-12355613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12293799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 574 (S574P)

Ref Sequence

ENSEMBL: ENSMUSP00000067708 (fasta)

Gene Model

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

AlphaFold

Q9JI91

Predicted Effect

probably benign
Transcript: ENSMUST00000064204
AA Change: S574P

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: S574P

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: S574P

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: S574P

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: S80P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,872,322 (GRCm39)	S83R	probably damaging	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Bmal1	A	T	7: 112,886,390 (GRCm39)	H149L	probably damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec1a	C	T	6: 129,413,918 (GRCm39)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or13p4	T	C	4: 118,547,215 (GRCm39)	I145V	probably benign	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Snip1	T	A	4: 124,966,712 (GRCm39)	S381T	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Yars2	C	T	16: 16,121,182 (GRCm39)	A112V	probably damaging	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	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
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
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
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'- TGCTGGATTAGGTCATCCTCC -3'
(R):5'- TGCCTTGTGGGTACAAAGTC -3'

Sequencing Primer
(F):5'- GGATTAGGTCATCCTCCATCCCAC -3'
(R):5'- TTGTGATCCCAGACTGGAAC -3'

Posted On

2019-06-26