Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Actn2'

471714

Institutional Source

Beutler Lab

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R5975 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

12269426-12340760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12340497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 2 (N2D)

Ref Sequence

ENSEMBL: ENSMUSP00000129609 (fasta)

Gene Model

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

AlphaFold

Q9JI91

Predicted Effect

probably benign
Transcript: ENSMUST00000064204
AA Change: N2D

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: N2D

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

probably benign
Transcript: ENSMUST00000168193
AA Change: N2D

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: N2D

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

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221 (GRCm38)	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292 (GRCm38)		probably benign	Het
Abhd14a	A	T	9: 106,443,951 (GRCm38)		probably null	Het
Adcy9	T	C	16: 4,311,567 (GRCm38)	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783 (GRCm38)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749 (GRCm38)	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447 (GRCm38)		probably null	Het
Bpifa3	T	A	2: 154,136,321 (GRCm38)	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864 (GRCm38)		probably benign	Het
Cabin1	A	T	10: 75,657,839 (GRCm38)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235 (GRCm38)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478 (GRCm38)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619 (GRCm38)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240 (GRCm38)		probably benign	Het
Celsr1	G	T	15: 85,919,038 (GRCm38)		probably null	Het
Cenpj	A	T	14: 56,564,066 (GRCm38)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890 (GRCm38)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626 (GRCm38)	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793 (GRCm38)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209 (GRCm38)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009 (GRCm38)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282 (GRCm38)	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842 (GRCm38)	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406 (GRCm38)	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432 (GRCm38)		probably null	Het
Fbxw15	A	T	9: 109,555,252 (GRCm38)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103 (GRCm38)	V62I	probably benign	Het
Gart	A	G	16: 91,624,336 (GRCm38)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323 (GRCm38)	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174 (GRCm38)		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549 (GRCm38)		probably benign	Het
Gm8882	A	G	6: 132,362,073 (GRCm38)	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516 (GRCm38)		probably benign	Het
Gsdme	T	C	6: 50,227,359 (GRCm38)	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050 (GRCm38)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359 (GRCm38)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748 (GRCm38)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128 (GRCm38)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321 (GRCm38)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470 (GRCm38)	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508 (GRCm38)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115 (GRCm38)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788 (GRCm38)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619 (GRCm38)		probably null	Het
P4ha2	G	A	11: 54,126,412 (GRCm38)		probably null	Het
Pcdha9	T	A	18: 36,999,111 (GRCm38)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988 (GRCm38)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253 (GRCm38)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691 (GRCm38)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370 (GRCm38)		probably benign	Het
Prmt9	T	C	8: 77,561,018 (GRCm38)		probably benign	Het
Rab26	T	C	17: 24,530,399 (GRCm38)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580 (GRCm38)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225 (GRCm38)	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763 (GRCm38)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780 (GRCm38)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000 (GRCm38)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778 (GRCm38)	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773 (GRCm38)	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205 (GRCm38)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271 (GRCm38)		noncoding transcript	Het
Ttn	G	A	2: 76,761,235 (GRCm38)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626 (GRCm38)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351 (GRCm38)	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128 (GRCm38)	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589 (GRCm38)	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275 (GRCm38)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615 (GRCm38)	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441 (GRCm38)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163 (GRCm38)	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092 (GRCm38)	Y187N	possibly damaging	Het

Other mutations in Actn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Actn2	APN	13	12,310,910 (GRCm38)	missense	possibly damaging	0.50
IGL01909:Actn2	APN	13	12,309,593 (GRCm38)	critical splice donor site	probably null
IGL01994:Actn2	APN	13	12,290,677 (GRCm38)	missense	probably benign	0.26
IGL02118:Actn2	APN	13	12,276,547 (GRCm38)	intron	probably benign
IGL02480:Actn2	APN	13	12,276,478 (GRCm38)	missense	probably benign	0.02
IGL02827:Actn2	APN	13	12,275,199 (GRCm38)	missense	probably damaging	1.00
IGL03110:Actn2	APN	13	12,309,607 (GRCm38)	missense	probably benign	0.02
R0044:Actn2	UTSW	13	12,275,127 (GRCm38)	missense	possibly damaging	0.51
R0512:Actn2	UTSW	13	12,277,415 (GRCm38)	missense	probably damaging	1.00
R1623:Actn2	UTSW	13	12,340,439 (GRCm38)	missense	probably benign
R1983:Actn2	UTSW	13	12,278,810 (GRCm38)	missense	probably benign	0.00
R1989:Actn2	UTSW	13	12,340,395 (GRCm38)	missense	probably benign	0.38
R2148:Actn2	UTSW	13	12,300,949 (GRCm38)	missense	probably damaging	0.99
R2196:Actn2	UTSW	13	12,275,179 (GRCm38)	missense	probably damaging	0.99
R2254:Actn2	UTSW	13	12,296,479 (GRCm38)	missense	probably benign	0.20
R2850:Actn2	UTSW	13	12,275,179 (GRCm38)	missense	probably damaging	0.99
R4391:Actn2	UTSW	13	12,290,748 (GRCm38)	missense	probably damaging	0.99
R4396:Actn2	UTSW	13	12,310,879 (GRCm38)	missense	probably damaging	1.00
R4758:Actn2	UTSW	13	12,288,586 (GRCm38)	nonsense	probably null
R5068:Actn2	UTSW	13	12,288,522 (GRCm38)	missense	possibly damaging	0.78
R5069:Actn2	UTSW	13	12,288,522 (GRCm38)	missense	possibly damaging	0.78
R5070:Actn2	UTSW	13	12,288,522 (GRCm38)	missense	possibly damaging	0.78
R5228:Actn2	UTSW	13	12,288,659 (GRCm38)	critical splice acceptor site	probably null
R5382:Actn2	UTSW	13	12,308,951 (GRCm38)	missense	probably benign	0.37
R5408:Actn2	UTSW	13	12,270,795 (GRCm38)	missense	probably benign	0.41
R6189:Actn2	UTSW	13	12,276,440 (GRCm38)	missense	probably damaging	1.00
R6226:Actn2	UTSW	13	12,278,967 (GRCm38)	missense	probably benign
R6498:Actn2	UTSW	13	12,276,473 (GRCm38)	missense	probably damaging	1.00
R7094:Actn2	UTSW	13	12,309,657 (GRCm38)	missense	probably damaging	1.00
R7164:Actn2	UTSW	13	12,278,961 (GRCm38)	missense	probably damaging	1.00
R7218:Actn2	UTSW	13	12,278,913 (GRCm38)	missense	probably benign	0.33
R7260:Actn2	UTSW	13	12,276,490 (GRCm38)	missense	probably benign	0.00
R7768:Actn2	UTSW	13	12,282,594 (GRCm38)	missense	possibly damaging	0.72
R7896:Actn2	UTSW	13	12,294,317 (GRCm38)	missense	possibly damaging	0.76
R8141:Actn2	UTSW	13	12,288,630 (GRCm38)	missense	probably damaging	1.00
R8702:Actn2	UTSW	13	12,282,529 (GRCm38)	missense	probably damaging	1.00
R8785:Actn2	UTSW	13	12,277,431 (GRCm38)	missense	probably benign	0.02
R9028:Actn2	UTSW	13	12,300,978 (GRCm38)	missense	possibly damaging	0.90
R9099:Actn2	UTSW	13	12,288,630 (GRCm38)	missense	probably damaging	1.00
R9517:Actn2	UTSW	13	12,280,431 (GRCm38)	missense	probably damaging	0.97
X0018:Actn2	UTSW	13	12,269,645 (GRCm38)	missense	probably damaging	1.00
Z1177:Actn2	UTSW	13	12,288,562 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTCTAGTGGTCACAGCC -3'
(R):5'- TCAGCGGGCTATTAATCCG -3'

Sequencing Primer
(F):5'- TAGTGGTCACAGCCGGAGAC -3'
(R):5'- TGGTACTTCGCCGGAGACTC -3'

Posted On

2017-03-31