Mutagenetix > Incidental Mutation

Incidental Mutation 'R6189:Actn2'

502409

Institutional Source

Beutler Lab

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

1110008F24Rik

MMRRC Submission

044329-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12284312-12355613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12291326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 693 (D693N)

Ref Sequence

ENSEMBL: ENSMUSP00000129609 (fasta)

Gene Model

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

AlphaFold

Q9JI91

Predicted Effect

probably damaging
Transcript: ENSMUST00000064204
AA Change: D693N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: D693N

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 damaging
Transcript: ENSMUST00000168193
AA Change: D693N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: D693N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222034

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,474,222 (GRCm39)		probably benign	Het
Abca8a	T	C	11: 109,921,710 (GRCm39)	D1448G	probably damaging	Het
Adam3	A	C	8: 25,201,352 (GRCm39)	I267R	probably benign	Het
Aldh1l2	A	G	10: 83,343,877 (GRCm39)		probably null	Het
C4bp	T	C	1: 130,564,556 (GRCm39)	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,616,818 (GRCm39)	W101R	probably damaging	Het
Ccdc97	T	A	7: 25,415,523 (GRCm39)	T47S	probably benign	Het
Cenatac	G	A	9: 44,321,618 (GRCm39)	R328C	probably benign	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cntnap2	T	A	6: 47,248,232 (GRCm39)	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,495,972 (GRCm39)	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,607,966 (GRCm39)	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,710,849 (GRCm39)	V354A	probably damaging	Het
Dmxl1	C	T	18: 50,026,402 (GRCm39)	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,091,085 (GRCm39)	D665E	probably benign	Het
Dnmbp	T	C	19: 43,878,748 (GRCm39)	T108A	probably benign	Het
Dnmbp	T	A	19: 43,889,950 (GRCm39)	T606S	probably benign	Het
Dok5	T	A	2: 170,642,771 (GRCm39)	I23N	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha5	A	T	5: 84,385,399 (GRCm39)	F311I	probably damaging	Het
Erbb4	T	A	1: 68,083,075 (GRCm39)	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,786,526 (GRCm39)	I681T	probably benign	Het
Flg2	T	A	3: 93,127,381 (GRCm39)	C2098S	unknown	Het
Gpr87	T	A	3: 59,086,650 (GRCm39)	D285V	probably damaging	Het
Hrh1	T	A	6: 114,456,959 (GRCm39)	V80D	probably damaging	Het
Hunk	G	A	16: 90,284,769 (GRCm39)	R351K	probably benign	Het
Ifna12	A	G	4: 88,521,248 (GRCm39)	W100R	probably damaging	Het
Ift57	G	A	16: 49,584,176 (GRCm39)	G310S	probably damaging	Het
Igf1r	T	A	7: 67,857,084 (GRCm39)	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,768,432 (GRCm39)	I96T	probably damaging	Het
Il34	C	T	8: 111,469,350 (GRCm39)	S155N	probably benign	Het
Itga7	T	C	10: 128,786,272 (GRCm39)	S938P	possibly damaging	Het
Itgam	A	G	7: 127,711,676 (GRCm39)	M764V	probably benign	Het
Lao1	T	A	4: 118,825,077 (GRCm39)	M299K	probably benign	Het
Lnpep	A	T	17: 17,787,001 (GRCm39)	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,305,579 (GRCm39)	V283A	possibly damaging	Het
Magi3	G	T	3: 103,958,181 (GRCm39)	H635N	probably damaging	Het
Mecr	A	T	4: 131,592,565 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,728,674 (GRCm39)		probably null	Het
Mical2	A	C	7: 112,012,087 (GRCm39)	N646H	probably damaging	Het
Mymk	C	T	2: 26,957,377 (GRCm39)	V39I	possibly damaging	Het
Nav3	T	C	10: 109,555,880 (GRCm39)	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,342,644 (GRCm39)	D330V	probably benign	Het
Nup42	G	T	5: 24,380,452 (GRCm39)	G149V	probably damaging	Het
Nutm2	T	A	13: 50,623,774 (GRCm39)	V157D	possibly damaging	Het
Obscn	T	C	11: 58,960,760 (GRCm39)	I3460V	probably benign	Het
Or8u10	A	T	2: 85,915,257 (GRCm39)	M288K	possibly damaging	Het
Pakap	A	G	4: 57,855,928 (GRCm39)	E419G	probably benign	Het
Pcdh15	C	T	10: 74,178,483 (GRCm39)	A580V	probably null	Het
Pcdhb10	T	A	18: 37,545,456 (GRCm39)	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,012,118 (GRCm39)	Y130H	probably damaging	Het
Pmch	G	T	10: 87,927,248 (GRCm39)		probably null	Het
Pofut2	T	A	10: 77,104,420 (GRCm39)	I399N	probably damaging	Het
Prr36	C	A	8: 4,264,177 (GRCm39)		probably benign	Het
Ptprq	C	A	10: 107,353,748 (GRCm39)	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,172,716 (GRCm39)	A51V	probably damaging	Het
Retnla	A	G	16: 48,663,258 (GRCm39)	I54V	probably benign	Het
Rimbp2	A	G	5: 128,880,961 (GRCm39)	L142P	probably benign	Het
Ripk1	A	G	13: 34,216,484 (GRCm39)	T564A	probably benign	Het
Robo4	G	A	9: 37,314,829 (GRCm39)	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Rusc1	A	T	3: 88,996,319 (GRCm39)	L132Q	probably damaging	Het
Serpinb9h	A	T	13: 33,588,427 (GRCm39)	E337D	probably benign	Het
Setd1a	T	C	7: 127,377,455 (GRCm39)		probably null	Het
Slc38a6	A	T	12: 73,356,970 (GRCm39)	K122M	probably damaging	Het
Speer4a2	A	G	5: 26,290,691 (GRCm39)	I160T	probably benign	Het
Susd5	A	T	9: 113,924,726 (GRCm39)	D203V	probably damaging	Het
Trip4	G	A	9: 65,786,434 (GRCm39)	R110*	probably null	Het
Tuba4a	T	A	1: 75,193,518 (GRCm39)	I95F	probably benign	Het
Ube2q2	T	A	9: 55,070,267 (GRCm39)	S70T	probably benign	Het
Umodl1	A	G	17: 31,215,256 (GRCm39)	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,716,630 (GRCm39)	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,367,598 (GRCm39)	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,477,996 (GRCm39)	D138E	probably benign	Het
Wee2	C	T	6: 40,426,617 (GRCm39)	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp872	A	T	9: 22,108,427 (GRCm39)	D42V	probably benign	Het
Zic5	T	G	14: 122,702,386 (GRCm39)	D115A	unknown	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
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'- TAAATAGACTTAACTGTCCCCTGC -3'
(R):5'- TCTGCTAAGTGCCTCTCAGC -3'

Sequencing Primer
(F):5'- TTCACACCTACAGAATTCACTGG -3'
(R):5'- AAGTGCCTCTCAGCTGCCTG -3'

Posted On

2018-02-27