Mutagenetix > Incidental Mutation

Incidental Mutation 'R8527:Smarca2'

658874

Institutional Source

Beutler Lab

Gene Symbol

Smarca2

Ensembl Gene

ENSMUSG00000024921

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

Synonyms

Snf2l2, brm, 2610209L14Rik

MMRRC Submission

067952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26582578-26755721 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 26654187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 791 (V791L)

Ref Sequence

ENSEMBL: ENSMUSP00000135017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025862] [ENSMUST00000099537] [ENSMUST00000176030] [ENSMUST00000176769]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025862
AA Change: V791L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025862
Gene: ENSMUSG00000024921
AA Change: V791L

Domain	Start	End	E-Value	Type
low complexity region	11	58	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
low complexity region	135	154	N/A	INTRINSIC
QLQ	172	208	2.58e-13	SMART
low complexity region	216	264	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
HSA	447	519	1.44e-28	SMART
low complexity region	559	579	N/A	INTRINSIC
BRK	601	645	1.9e-19	SMART
DEXDc	731	923	1.34e-36	SMART
Blast:DEXDc	934	966	8e-10	BLAST
low complexity region	1005	1014	N/A	INTRINSIC
HELICc	1091	1175	3.84e-23	SMART
low complexity region	1233	1248	N/A	INTRINSIC
SnAC	1269	1337	7.29e-28	SMART
low complexity region	1344	1366	N/A	INTRINSIC
BROMO	1391	1501	3.13e-41	SMART
low complexity region	1502	1524	N/A	INTRINSIC
low complexity region	1526	1540	N/A	INTRINSIC
low complexity region	1564	1576	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099537
AA Change: V791L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097135
Gene: ENSMUSG00000024921
AA Change: V791L

Domain	Start	End	E-Value	Type
low complexity region	11	58	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
low complexity region	135	154	N/A	INTRINSIC
QLQ	172	208	2.58e-13	SMART
low complexity region	216	264	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
HSA	447	519	1.44e-28	SMART
low complexity region	559	579	N/A	INTRINSIC
BRK	601	645	1.9e-19	SMART
DEXDc	731	923	1.34e-36	SMART
Blast:DEXDc	934	966	7e-10	BLAST
low complexity region	1005	1014	N/A	INTRINSIC
HELICc	1091	1175	3.84e-23	SMART
low complexity region	1233	1248	N/A	INTRINSIC
SnAC	1269	1337	7.29e-28	SMART
low complexity region	1344	1366	N/A	INTRINSIC
PDB:2DAT\|A	1389	1410	1e-6	PDB
low complexity region	1480	1508	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176030
AA Change: V791L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135784
Gene: ENSMUSG00000024921
AA Change: V791L

Domain	Start	End	E-Value	Type
low complexity region	11	58	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
low complexity region	135	154	N/A	INTRINSIC
QLQ	172	208	2.58e-13	SMART
low complexity region	216	264	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
HSA	447	519	1.44e-28	SMART
low complexity region	559	579	N/A	INTRINSIC
BRK	601	645	1.9e-19	SMART
DEXDc	731	923	1.34e-36	SMART
Blast:DEXDc	934	966	8e-10	BLAST
low complexity region	1005	1014	N/A	INTRINSIC
HELICc	1091	1175	3.84e-23	SMART
low complexity region	1233	1248	N/A	INTRINSIC
SnAC	1269	1337	7.29e-28	SMART
low complexity region	1344	1366	N/A	INTRINSIC
BROMO	1391	1519	1.74e-39	SMART
low complexity region	1520	1542	N/A	INTRINSIC
low complexity region	1544	1558	N/A	INTRINSIC
low complexity region	1582	1594	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176769
AA Change: V791L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135017
Gene: ENSMUSG00000024921
AA Change: V791L

Domain	Start	End	E-Value	Type
low complexity region	11	58	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
low complexity region	135	154	N/A	INTRINSIC
QLQ	172	208	2.58e-13	SMART
low complexity region	216	264	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	394	405	N/A	INTRINSIC
HSA	447	519	1.44e-28	SMART
low complexity region	559	579	N/A	INTRINSIC
BRK	601	645	1.9e-19	SMART
DEXDc	731	908	4.18e-24	SMART
low complexity region	947	956	N/A	INTRINSIC
HELICc	1033	1117	3.84e-23	SMART
low complexity region	1175	1190	N/A	INTRINSIC
SnAC	1211	1279	7.29e-28	SMART
low complexity region	1286	1308	N/A	INTRINSIC
BROMO	1333	1443	3.13e-41	SMART
low complexity region	1444	1466	N/A	INTRINSIC
low complexity region	1468	1482	N/A	INTRINSIC
low complexity region	1506	1518	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Arhgef12	A	T	9: 42,908,944 (GRCm39)	L661Q	possibly damaging	Het
Atf7ip2	T	A	16: 10,055,129 (GRCm39)		probably benign	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Ceacam2	T	A	7: 25,238,155 (GRCm39)	I90L	probably benign	Het
Dgcr6	T	C	16: 17,887,390 (GRCm39)		probably null	Het
Efcab12	T	C	6: 115,791,535 (GRCm39)	I546V	probably benign	Het
Eya1	G	T	1: 14,322,672 (GRCm39)	A268E	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Gas6	T	C	8: 13,515,790 (GRCm39)	I661V	probably damaging	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm12689	A	G	4: 99,184,450 (GRCm39)	D101G	unknown	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Lca5l	C	A	16: 95,960,438 (GRCm39)	G675C	probably damaging	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Lonrf1	G	T	8: 36,686,986 (GRCm39)	N783K	possibly damaging	Het
Megf10	T	C	18: 57,425,790 (GRCm39)	S1059P	probably benign	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Myh11	T	C	16: 14,048,570 (GRCm39)	H586R	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Rasgrp1	A	T	2: 117,168,785 (GRCm39)	D64E	probably benign	Het
Rb1cc1	T	A	1: 6,315,099 (GRCm39)	N417K	probably damaging	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Scn3a	G	T	2: 65,327,863 (GRCm39)	H876N	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Smc4	T	A	3: 68,940,224 (GRCm39)		probably null	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tex52	G	A	6: 128,356,828 (GRCm39)	V174I	probably benign	Het
Tjp2	C	A	19: 24,088,937 (GRCm39)	G660W	probably damaging	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Tnxb	A	G	17: 34,907,634 (GRCm39)	E1226G	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zan	T	C	5: 137,433,971 (GRCm39)	E2254G	unknown	Het

Other mutations in Smarca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Smarca2	APN	19	26,751,694 (GRCm39)	missense	possibly damaging	0.82
IGL01907:Smarca2	APN	19	26,675,865 (GRCm39)	missense	possibly damaging	0.59
IGL02039:Smarca2	APN	19	26,693,537 (GRCm39)	missense	probably damaging	1.00
IGL02110:Smarca2	APN	19	26,650,140 (GRCm39)	missense	possibly damaging	0.96
IGL02561:Smarca2	APN	19	26,693,582 (GRCm39)	missense	possibly damaging	0.92
IGL02649:Smarca2	APN	19	26,617,986 (GRCm39)	missense	possibly damaging	0.73
IGL02880:Smarca2	APN	19	26,654,024 (GRCm39)	splice site	probably benign
IGL03028:Smarca2	APN	19	26,655,712 (GRCm39)	splice site	probably benign
IGL03187:Smarca2	APN	19	26,650,224 (GRCm39)	missense	probably damaging	0.98
IGL03213:Smarca2	APN	19	26,601,375 (GRCm39)	missense	probably damaging	1.00
IGL03354:Smarca2	APN	19	26,597,303 (GRCm39)	missense	probably benign	0.01
Genghis	UTSW	19	26,597,284 (GRCm39)	missense	possibly damaging	0.53
kraft	UTSW	19	26,655,763 (GRCm39)	missense	probably damaging	0.99
Kublai	UTSW	19	26,618,013 (GRCm39)	missense	probably damaging	1.00
Samarkand	UTSW	19	26,631,864 (GRCm39)	nonsense	probably null
tashkent	UTSW	19	26,698,273 (GRCm39)	missense	probably benign	0.06
Xanadu	UTSW	19	26,659,452 (GRCm39)	missense	possibly damaging	0.52
FR4737:Smarca2	UTSW	19	26,608,399 (GRCm39)	unclassified	probably benign
PIT1430001:Smarca2	UTSW	19	26,626,493 (GRCm39)	missense	probably benign	0.35
R0184:Smarca2	UTSW	19	26,669,649 (GRCm39)	nonsense	probably null
R0306:Smarca2	UTSW	19	26,618,013 (GRCm39)	missense	probably damaging	1.00
R0538:Smarca2	UTSW	19	26,668,762 (GRCm39)	missense	probably damaging	0.99
R0565:Smarca2	UTSW	19	26,659,275 (GRCm39)	missense	possibly damaging	0.71
R0610:Smarca2	UTSW	19	26,668,791 (GRCm39)	missense	probably damaging	1.00
R0669:Smarca2	UTSW	19	26,683,600 (GRCm39)	missense	possibly damaging	0.51
R0726:Smarca2	UTSW	19	26,675,803 (GRCm39)	missense	probably damaging	1.00
R1184:Smarca2	UTSW	19	26,748,333 (GRCm39)	splice site	probably benign
R1256:Smarca2	UTSW	19	26,659,373 (GRCm39)	missense	probably benign	0.06
R1299:Smarca2	UTSW	19	26,749,011 (GRCm39)	critical splice donor site	probably null
R1306:Smarca2	UTSW	19	26,748,388 (GRCm39)	missense	possibly damaging	0.81
R1381:Smarca2	UTSW	19	26,608,228 (GRCm39)	missense	probably damaging	1.00
R1400:Smarca2	UTSW	19	26,654,140 (GRCm39)	missense	probably damaging	0.98
R1415:Smarca2	UTSW	19	26,688,084 (GRCm39)	missense	probably null	0.72
R1496:Smarca2	UTSW	19	26,608,501 (GRCm39)	missense	possibly damaging	0.85
R1582:Smarca2	UTSW	19	26,729,305 (GRCm39)	missense	probably damaging	0.99
R1666:Smarca2	UTSW	19	26,624,434 (GRCm39)	missense	possibly damaging	0.65
R1668:Smarca2	UTSW	19	26,624,434 (GRCm39)	missense	possibly damaging	0.65
R1751:Smarca2	UTSW	19	26,617,780 (GRCm39)	splice site	probably benign
R1861:Smarca2	UTSW	19	26,601,284 (GRCm39)	missense	probably benign	0.03
R1962:Smarca2	UTSW	19	26,650,124 (GRCm39)	nonsense	probably null
R1964:Smarca2	UTSW	19	26,650,124 (GRCm39)	nonsense	probably null
R1998:Smarca2	UTSW	19	26,608,493 (GRCm39)	missense	probably benign	0.33
R2014:Smarca2	UTSW	19	26,661,305 (GRCm39)	missense	possibly damaging	0.86
R2255:Smarca2	UTSW	19	26,748,438 (GRCm39)	missense	probably benign	0.01
R2392:Smarca2	UTSW	19	26,618,050 (GRCm39)	critical splice donor site	probably null
R2439:Smarca2	UTSW	19	26,668,854 (GRCm39)	critical splice donor site	probably null
R3030:Smarca2	UTSW	19	26,729,429 (GRCm39)	missense	possibly damaging	0.84
R3195:Smarca2	UTSW	19	26,661,222 (GRCm39)	missense	possibly damaging	0.85
R3430:Smarca2	UTSW	19	26,668,749 (GRCm39)	missense	probably damaging	1.00
R3710:Smarca2	UTSW	19	26,646,290 (GRCm39)	unclassified	probably benign
R3845:Smarca2	UTSW	19	26,698,273 (GRCm39)	missense	probably benign	0.06
R4013:Smarca2	UTSW	19	26,661,327 (GRCm39)	splice site	probably null
R4014:Smarca2	UTSW	19	26,661,327 (GRCm39)	splice site	probably null
R4016:Smarca2	UTSW	19	26,661,327 (GRCm39)	splice site	probably null
R4271:Smarca2	UTSW	19	26,698,349 (GRCm39)	critical splice donor site	probably null
R4471:Smarca2	UTSW	19	26,597,277 (GRCm39)	missense	possibly damaging	0.86
R4612:Smarca2	UTSW	19	26,753,625 (GRCm39)	missense	possibly damaging	0.70
R4730:Smarca2	UTSW	19	26,608,073 (GRCm39)	missense	probably damaging	1.00
R4755:Smarca2	UTSW	19	26,631,883 (GRCm39)	missense	possibly damaging	0.86
R4999:Smarca2	UTSW	19	26,698,255 (GRCm39)	nonsense	probably null
R5015:Smarca2	UTSW	19	26,668,788 (GRCm39)	missense	possibly damaging	0.86
R5320:Smarca2	UTSW	19	26,668,772 (GRCm39)	missense	probably damaging	1.00
R5393:Smarca2	UTSW	19	26,617,829 (GRCm39)	missense	probably benign	0.18
R5503:Smarca2	UTSW	19	26,659,446 (GRCm39)	missense	possibly damaging	0.93
R5503:Smarca2	UTSW	19	26,601,336 (GRCm39)	missense	probably damaging	0.96
R5715:Smarca2	UTSW	19	26,626,522 (GRCm39)	missense	probably benign	0.16
R5790:Smarca2	UTSW	19	26,654,124 (GRCm39)	missense	probably damaging	1.00
R5874:Smarca2	UTSW	19	26,753,469 (GRCm39)	intron	probably benign
R6209:Smarca2	UTSW	19	26,748,404 (GRCm39)	nonsense	probably null
R6236:Smarca2	UTSW	19	26,673,613 (GRCm39)	missense	probably benign	0.33
R6291:Smarca2	UTSW	19	26,608,292 (GRCm39)	missense	probably damaging	1.00
R6292:Smarca2	UTSW	19	26,608,292 (GRCm39)	missense	probably damaging	1.00
R6325:Smarca2	UTSW	19	26,655,763 (GRCm39)	missense	probably damaging	0.99
R6544:Smarca2	UTSW	19	26,608,331 (GRCm39)	missense	probably damaging	1.00
R6572:Smarca2	UTSW	19	26,656,573 (GRCm39)	missense	possibly damaging	0.71
R6589:Smarca2	UTSW	19	26,597,284 (GRCm39)	missense	possibly damaging	0.53
R6601:Smarca2	UTSW	19	26,631,777 (GRCm39)	missense	probably benign	0.30
R6804:Smarca2	UTSW	19	26,729,286 (GRCm39)	missense	possibly damaging	0.93
R6922:Smarca2	UTSW	19	26,668,749 (GRCm39)	missense	probably damaging	1.00
R7047:Smarca2	UTSW	19	26,646,555 (GRCm39)	missense	possibly damaging	0.83
R7213:Smarca2	UTSW	19	26,624,531 (GRCm39)	missense	possibly damaging	0.96
R7257:Smarca2	UTSW	19	26,631,864 (GRCm39)	nonsense	probably null
R7259:Smarca2	UTSW	19	26,631,864 (GRCm39)	nonsense	probably null
R7479:Smarca2	UTSW	19	26,617,887 (GRCm39)	missense	probably benign	0.00
R7512:Smarca2	UTSW	19	26,661,209 (GRCm39)	missense	possibly damaging	0.51
R8158:Smarca2	UTSW	19	26,659,448 (GRCm39)	missense	probably benign	0.16
R8182:Smarca2	UTSW	19	26,608,120 (GRCm39)	missense	probably benign	0.39
R8207:Smarca2	UTSW	19	26,654,080 (GRCm39)	missense	possibly damaging	0.71
R8467:Smarca2	UTSW	19	26,597,121 (GRCm39)	start codon destroyed	probably null	0.02
R8784:Smarca2	UTSW	19	26,753,558 (GRCm39)	missense	probably benign	0.17
R8898:Smarca2	UTSW	19	26,608,358 (GRCm39)	unclassified	probably benign
R9076:Smarca2	UTSW	19	26,659,452 (GRCm39)	missense	possibly damaging	0.52
R9123:Smarca2	UTSW	19	26,693,583 (GRCm39)	missense	possibly damaging	0.84
R9125:Smarca2	UTSW	19	26,693,583 (GRCm39)	missense	possibly damaging	0.84
R9317:Smarca2	UTSW	19	26,737,279 (GRCm39)	missense	possibly damaging	0.75
R9501:Smarca2	UTSW	19	26,617,977 (GRCm39)	missense	probably benign	0.04
R9514:Smarca2	UTSW	19	26,659,452 (GRCm39)	missense	possibly damaging	0.71
R9641:Smarca2	UTSW	19	26,656,498 (GRCm39)	missense	possibly damaging	0.93
RF001:Smarca2	UTSW	19	26,608,421 (GRCm39)	unclassified	probably benign
RF001:Smarca2	UTSW	19	26,608,386 (GRCm39)	unclassified	probably benign
RF004:Smarca2	UTSW	19	26,608,420 (GRCm39)	unclassified	probably benign
RF019:Smarca2	UTSW	19	26,608,401 (GRCm39)	unclassified	probably benign
RF021:Smarca2	UTSW	19	26,608,397 (GRCm39)	unclassified	probably benign
RF024:Smarca2	UTSW	19	26,608,420 (GRCm39)	unclassified	probably benign
RF034:Smarca2	UTSW	19	26,608,411 (GRCm39)	unclassified	probably benign
RF040:Smarca2	UTSW	19	26,608,422 (GRCm39)	unclassified	probably benign
RF041:Smarca2	UTSW	19	26,608,421 (GRCm39)	unclassified	probably benign
RF047:Smarca2	UTSW	19	26,608,405 (GRCm39)	unclassified	probably benign
RF051:Smarca2	UTSW	19	26,608,388 (GRCm39)	unclassified	probably benign
X0061:Smarca2	UTSW	19	26,698,240 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTGTGCAGATCTTGGATAATTG -3'
(R):5'- CATGGCTGATCAGAATCGCTAC -3'

Sequencing Primer
(F):5'- GAAACAATTACTCTTCATTTCAGCTC -3'
(R):5'- CTTGCTAGTCAAAAGACTACAGTGG -3'

Posted On

2021-01-18