Incidental Mutation 'R7512:Smarca2'
ID 582185
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 045585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7512 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 26582578-26755721 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 26661209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 935 (V935L)
Ref Sequence ENSEMBL: ENSMUSP00000135784 (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: V935L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025862
Gene: ENSMUSG00000024921
AA Change: V935L

DomainStartEndE-ValueType
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: V935L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097135
Gene: ENSMUSG00000024921
AA Change: V935L

DomainStartEndE-ValueType
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: V935L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135784
Gene: ENSMUSG00000024921
AA Change: V935L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000176769
AA Change: V877L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135017
Gene: ENSMUSG00000024921
AA Change: V877L

DomainStartEndE-ValueType
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: 99.1%
Validation Efficiency 100% (59/59)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,829,275 (GRCm39) A1395T probably benign Het
Ank3 A G 10: 69,826,691 (GRCm39) K1787E Het
Atg2a C T 19: 6,310,106 (GRCm39) A1763V probably damaging Het
Bdp1 T C 13: 100,187,457 (GRCm39) I1637V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Ccnt2 T A 1: 127,730,031 (GRCm39) S303T possibly damaging Het
Cdh3 C T 8: 107,265,640 (GRCm39) Q228* probably null Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dock2 A C 11: 34,262,542 (GRCm39) C938G possibly damaging Het
Dync1i1 G T 6: 5,969,410 (GRCm39) V412L possibly damaging Het
Eif1ad6 G T 12: 87,668,751 (GRCm39) E128* probably null Het
Entrep2 C T 7: 64,805,918 (GRCm39) A52T probably benign Het
Fam185a G A 5: 21,652,356 (GRCm39) probably null Het
Fcho1 A G 8: 72,169,507 (GRCm39) L133P possibly damaging Het
Galnt12 G A 4: 47,108,406 (GRCm39) R181H possibly damaging Het
Gen1 A G 12: 11,310,977 (GRCm39) V85A possibly damaging Het
Gm12185 A T 11: 48,806,717 (GRCm39) I158K probably benign Het
Gm5624 T C 14: 44,799,312 (GRCm39) R82G Het
Grap2 A C 15: 80,532,754 (GRCm39) N307T probably benign Het
H6pd A G 4: 150,080,405 (GRCm39) F147L probably benign Het
Haspin A T 11: 73,027,418 (GRCm39) I557N probably damaging Het
Hectd4 A T 5: 121,435,172 (GRCm39) K961N possibly damaging Het
Helz2 A G 2: 180,872,647 (GRCm39) M2495T probably benign Het
Helz2 A T 2: 180,877,393 (GRCm39) probably null Het
Impdh1 T C 6: 29,207,168 (GRCm39) I59V probably benign Het
Kcnn1 A T 8: 71,307,293 (GRCm39) L200Q possibly damaging Het
Kif5c T A 2: 49,590,977 (GRCm39) H276Q probably damaging Het
Kntc1 T C 5: 123,929,001 (GRCm39) L1259P probably damaging Het
Krtap4-1 A T 11: 99,518,859 (GRCm39) C50* probably null Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lrrc41 A G 4: 115,950,191 (GRCm39) T535A possibly damaging Het
Ly75 A T 2: 60,164,907 (GRCm39) V757D probably damaging Het
Masp1 C A 16: 23,288,874 (GRCm39) R642L probably damaging Het
Morn3 A G 5: 123,175,343 (GRCm39) probably null Het
Mpl A T 4: 118,306,089 (GRCm39) I384N Het
Mtmr14 C T 6: 113,245,652 (GRCm39) Q409* probably null Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Oit3 T C 10: 59,274,716 (GRCm39) Y28C probably damaging Het
Or2z8 T A 8: 72,812,367 (GRCm39) I281N probably damaging Het
Or4x12-ps1 A G 2: 89,916,040 (GRCm39) I255T possibly damaging Het
Or5ac22 T A 16: 59,135,390 (GRCm39) N127Y probably damaging Het
Pcdh15 T C 10: 74,477,214 (GRCm39) Y186H possibly damaging Het
Pcdhgb1 T A 18: 37,815,418 (GRCm39) D636E probably damaging Het
Pdgfra A T 5: 75,355,675 (GRCm39) R1062* probably null Het
Pds5b T C 5: 150,711,807 (GRCm39) F922L probably damaging Het
Pip5k1c G A 10: 81,150,953 (GRCm39) probably null Het
Ppp2r3d T C 9: 101,052,532 (GRCm39) T226A possibly damaging Het
Ptprh G A 7: 4,574,780 (GRCm39) T413I possibly damaging Het
Rora C A 9: 69,281,367 (GRCm39) D382E probably benign Het
Sacs T A 14: 61,441,879 (GRCm39) N1308K probably benign Het
Sgce C T 6: 4,707,192 (GRCm39) D218N possibly damaging Het
Slc34a3 A T 2: 25,122,253 (GRCm39) probably null Het
Slit1 T C 19: 41,589,074 (GRCm39) Y1471C probably damaging Het
Smchd1 T C 17: 71,688,364 (GRCm39) N1298S possibly damaging Het
Sort1 T A 3: 108,233,323 (GRCm39) probably null Het
Spata13 T C 14: 60,989,226 (GRCm39) L964P probably damaging Het
Spata31h1 G A 10: 82,128,469 (GRCm39) L1514F probably benign Het
Trav7-6 C A 14: 53,954,552 (GRCm39) D47E probably benign Het
Ubap2l A G 3: 89,917,803 (GRCm39) F864L unknown Het
Vmn2r102 C T 17: 19,914,363 (GRCm39) P643S probably damaging Het
Zfp112 T A 7: 23,824,604 (GRCm39) C195S possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Smarca2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8527:Smarca2 UTSW 19 26,654,187 (GRCm39) missense probably damaging 0.98
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'- GATCTAGGAGCTGAGACATAGACAC -3'
(R):5'- TATTTCCGACACGCAACCTC -3'

Sequencing Primer
(F):5'- GCTGAGACATAGACACTTATTTGGAG -3'
(R):5'- GCAACCTCACAGAAAAGTACTGG -3'
Posted On 2019-10-17