Mutagenetix > Incidental Mutation

Incidental Mutation 'R9099:Actn2'

691566

Institutional Source

Beutler Lab

Gene Symbol

Actn2

Ensembl Gene

ENSMUSG00000052374

Gene Name

actinin alpha 2

Synonyms

1110008F24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R9099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12284312-12355613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12303516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 428 (D428G)

Ref Sequence

ENSEMBL: ENSMUSP00000067708 (fasta)

Gene Model

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

AlphaFold

Q9JI91

Predicted Effect

probably damaging
Transcript: ENSMUST00000064204
AA Change: D428G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: D428G

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: D428G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: D428G

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

0.5404

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (61/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,871,708 (GRCm39)	M90K	probably damaging	Het
Arrb1	T	C	7: 99,243,836 (GRCm39)	V262A	probably damaging	Het
Bok	A	G	1: 93,622,661 (GRCm39)	I102V		Het
C87436	T	A	6: 86,439,567 (GRCm39)	F419L	probably damaging	Het
Capn15	A	G	17: 26,192,141 (GRCm39)	C34R	probably benign	Het
Ccdc8	T	A	7: 16,728,800 (GRCm39)	Y96*	probably null	Het
Cd274	T	A	19: 29,357,771 (GRCm39)	C154*	probably null	Het
Cfap251	A	G	5: 123,418,082 (GRCm39)		probably benign	Het
Ckap4	A	T	10: 84,369,402 (GRCm39)	L110Q	probably damaging	Het
Col26a1	A	T	5: 136,777,202 (GRCm39)	D335E	probably benign	Het
Crybg1	C	T	10: 43,874,844 (GRCm39)	V755I	probably benign	Het
Dhx38	A	T	8: 110,282,783 (GRCm39)	Y628N	probably damaging	Het
Dnah12	A	T	14: 26,492,325 (GRCm39)	K1155M	probably benign	Het
Ei24	A	G	9: 36,697,270 (GRCm39)	F153L	probably damaging	Het
Erg	T	A	16: 95,178,188 (GRCm39)	E246D	probably benign	Het
Exoc6b	T	C	6: 84,982,000 (GRCm39)	N99D	possibly damaging	Het
Fam222b	G	T	11: 78,046,020 (GRCm39)	R527L	probably damaging	Het
Fam83h	T	C	15: 75,875,135 (GRCm39)	Y734C	probably damaging	Het
Fbxo43	T	C	15: 36,162,619 (GRCm39)	E196G	possibly damaging	Het
Gata5	G	A	2: 179,976,131 (GRCm39)	P11L	possibly damaging	Het
Gbp3	A	T	3: 142,271,048 (GRCm39)	S151C	probably benign	Het
Gli3	T	C	13: 15,901,320 (GRCm39)	L1569P	probably damaging	Het
Helz	G	A	11: 107,523,041 (GRCm39)	V742M	probably damaging	Het
Ifi27l2b	A	T	12: 103,418,114 (GRCm39)	N175K	unknown	Het
Itga1	A	T	13: 115,185,856 (GRCm39)	Y49N	probably damaging	Het
Kcnk2	T	C	1: 188,991,072 (GRCm39)	T167A	probably damaging	Het
Kirrel2	T	A	7: 30,147,642 (GRCm39)	T669S	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrit2	A	T	14: 36,790,812 (GRCm39)	T164S	possibly damaging	Het
Lrriq1	A	G	10: 103,051,864 (GRCm39)	V296A	probably damaging	Het
Malsu1	C	T	6: 49,050,731 (GRCm39)		probably benign	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Nfs1	C	T	2: 155,968,934 (GRCm39)	G380E	probably damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Nup98	T	A	7: 101,844,173 (GRCm39)	N54I	probably damaging	Het
Or7g21	C	T	9: 19,032,890 (GRCm39)	P210L	probably benign	Het
Or8g22	A	T	9: 38,958,026 (GRCm39)	C230S	probably benign	Het
Or8g53	A	G	9: 39,683,514 (GRCm39)	I194T		Het
Otoa	T	A	7: 120,739,055 (GRCm39)	F755I	probably benign	Het
P4htm	A	T	9: 108,460,911 (GRCm39)	M187K	probably benign	Het
Phldb3	C	T	7: 24,323,727 (GRCm39)	R453C	probably benign	Het
Pkd1l1	C	T	11: 8,922,986 (GRCm39)	A94T		Het
Pkp1	A	G	1: 135,805,429 (GRCm39)	F669S	probably benign	Het
Prl8a2	C	G	13: 27,536,793 (GRCm39)	Y138*	probably null	Het
Prl8a2	T	A	13: 27,536,794 (GRCm39)	Y139N	probably benign	Het
Rtn4r	T	A	16: 17,969,068 (GRCm39)	N165K	probably benign	Het
Scaper	G	T	9: 55,669,616 (GRCm39)	D353E	probably damaging	Het
Scn4a	G	T	11: 106,211,000 (GRCm39)	D1672E	probably damaging	Het
She	A	G	3: 89,739,078 (GRCm39)	S90G	probably benign	Het
Shmt2	A	T	10: 127,355,962 (GRCm39)	D130E	possibly damaging	Het
Slc2a12	T	A	10: 22,569,923 (GRCm39)	I538K	possibly damaging	Het
Snx29	T	A	16: 11,478,435 (GRCm39)	W322R	probably damaging	Het
Spp1	A	G	5: 104,588,387 (GRCm39)	D263G	probably benign	Het
Srek1ip1	T	C	13: 104,973,964 (GRCm39)	S124P	possibly damaging	Het
Tcp10b	C	T	17: 13,280,656 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,364,600 (GRCm39)	F256S	probably damaging	Het
Tpte	T	C	8: 22,845,497 (GRCm39)	Y516H		Het
Trem1	C	A	17: 48,544,271 (GRCm39)	Q99K	possibly damaging	Het
Umodl1	C	T	17: 31,178,147 (GRCm39)	P41L	probably benign	Het
Upp2	T	C	2: 58,457,542 (GRCm39)		probably null	Het
Zfand1	A	T	3: 10,406,148 (GRCm39)	M181K	probably damaging	Het
Zfp292	T	C	4: 34,809,228 (GRCm39)	E1277G	possibly damaging	Het
Zfp458	G	T	13: 67,405,696 (GRCm39)	P248T	probably damaging	Het
Zfp667	T	A	7: 6,308,322 (GRCm39)	M330K	probably benign	Het
Zfp827	A	G	8: 79,917,107 (GRCm39)	T561A		Het
Zfp947	C	T	17: 22,364,855 (GRCm39)	G273D	probably benign	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
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
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'- TCTCTAGAGACCCTGCACAG -3'
(R):5'- TTTGTACATCCTAGGCAAGCCC -3'

Sequencing Primer
(F):5'- ATAGCCTGACACGGTCCAGAG -3'
(R):5'- TAGGCAAGCCCTCTACCACTG -3'

Posted On

2021-12-30