Incidental Mutation 'R9023:Smarcc2'
ID 686381
Institutional Source Beutler Lab
Gene Symbol Smarcc2
Ensembl Gene ENSMUSG00000025369
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Synonyms 5930405J04Rik
MMRRC Submission 068853-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R9023 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128301093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 187 (E187G)
Ref Sequence ENSEMBL: ENSMUSP00000100868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]
AlphaFold Q6PDG5
Predicted Effect probably damaging
Transcript: ENSMUST00000026433
AA Change: E187G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: E187G

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 424 512 4.9e-38 PFAM
low complexity region 545 557 N/A INTRINSIC
SANT 597 645 9.04e-12 SMART
low complexity region 768 816 N/A INTRINSIC
low complexity region 861 879 N/A INTRINSIC
coiled coil region 906 921 N/A INTRINSIC
low complexity region 948 982 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1012 1062 N/A INTRINSIC
low complexity region 1074 1098 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000099131
AA Change: E187G

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: E187G

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 424 512 3.9e-38 PFAM
SANT 628 676 9.04e-12 SMART
low complexity region 799 847 N/A INTRINSIC
low complexity region 892 910 N/A INTRINSIC
coiled coil region 937 952 N/A INTRINSIC
low complexity region 979 1013 N/A INTRINSIC
low complexity region 1016 1041 N/A INTRINSIC
low complexity region 1043 1093 N/A INTRINSIC
low complexity region 1105 1129 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105235
AA Change: E187G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: E187G

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 426 512 4.5e-35 PFAM
low complexity region 545 557 N/A INTRINSIC
SANT 597 645 9.04e-12 SMART
Pfam:SWIRM-assoc_3 684 750 4.1e-34 PFAM
low complexity region 768 816 N/A INTRINSIC
Pfam:SWIRM-assoc_1 863 946 1.5e-34 PFAM
low complexity region 948 982 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1012 1062 N/A INTRINSIC
low complexity region 1077 1093 N/A INTRINSIC
low complexity region 1108 1123 N/A INTRINSIC
low complexity region 1153 1177 N/A INTRINSIC
low complexity region 1184 1212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218228
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (66/66)
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, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,636,917 (GRCm39) D760G possibly damaging Het
Adamts14 C T 10: 61,038,780 (GRCm39) S907N probably damaging Het
Adgrf1 A T 17: 43,614,651 (GRCm39) Y245F possibly damaging Het
Adgrl3 C T 5: 81,613,065 (GRCm39) A98V probably damaging Het
Afmid A T 11: 117,726,349 (GRCm39) I186F probably damaging Het
Ago4 A G 4: 126,400,596 (GRCm39) Y706H probably damaging Het
Appl1 A T 14: 26,685,652 (GRCm39) S55R possibly damaging Het
Ash1l A G 3: 88,892,576 (GRCm39) H1485R probably damaging Het
Atp6v0a2 C T 5: 124,796,138 (GRCm39) T734M possibly damaging Het
B3gat1 T C 9: 26,663,069 (GRCm39) probably benign Het
Bcl7c T C 7: 127,306,504 (GRCm39) N96D probably benign Het
Brca2 T C 5: 150,465,360 (GRCm39) L1708P probably benign Het
Ccl8 C T 11: 82,006,873 (GRCm39) P29S possibly damaging Het
Clpx T A 9: 65,234,115 (GRCm39) C587S probably null Het
Coro2b T C 9: 62,332,978 (GRCm39) D168G Het
Dst T C 1: 34,153,105 (GRCm39) probably null Het
Eps8l1 C T 7: 4,477,042 (GRCm39) Q443* probably null Het
Fam131b G T 6: 42,298,946 (GRCm39) N11K possibly damaging Het
Firrm A T 1: 163,818,300 (GRCm39) I47N possibly damaging Het
Fry T C 5: 150,360,768 (GRCm39) V125A probably benign Het
Ftcd T C 10: 76,417,413 (GRCm39) F284S probably damaging Het
Glg1 A G 8: 111,904,380 (GRCm39) I617T probably damaging Het
Gm4847 C T 1: 166,469,332 (GRCm39) V111M probably damaging Het
Hcrtr2 C T 9: 76,161,854 (GRCm39) V179I probably damaging Het
Herc6 A G 6: 57,595,612 (GRCm39) N430S probably benign Het
Knl1 T C 2: 118,900,761 (GRCm39) S821P probably benign Het
Letm2 C T 8: 26,077,236 (GRCm39) V285I Het
Map3k14 T C 11: 103,129,835 (GRCm39) T361A possibly damaging Het
Mmp10 A T 9: 7,504,913 (GRCm39) M236L probably damaging Het
Mmp16 A G 4: 17,996,202 (GRCm39) K97R probably benign Het
Muc6 T A 7: 141,237,432 (GRCm39) K194* probably null Het
Myo18a A G 11: 77,718,477 (GRCm39) Y949C probably damaging Het
Nat8f1 A G 6: 85,887,369 (GRCm39) L197P probably damaging Het
Nlrp9a T G 7: 26,273,291 (GRCm39) N976K possibly damaging Het
Or2aa1 A T 11: 59,480,367 (GRCm39) C183S probably damaging Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Or8g24 T C 9: 38,989,307 (GRCm39) I245V probably benign Het
Parp3 T C 9: 106,348,490 (GRCm39) Y515C probably damaging Het
Pde11a C G 2: 75,966,803 (GRCm39) A549P probably damaging Het
Pdlim4 T C 11: 53,959,662 (GRCm39) probably benign Het
Pla2g4e T C 2: 120,001,718 (GRCm39) T644A probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Poglut2 T C 1: 44,153,925 (GRCm39) I175V possibly damaging Het
Prb1b GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT G 6: 132,289,174 (GRCm39) probably null Het
Prr7 A G 13: 55,620,234 (GRCm39) S133G possibly damaging Het
Pten C A 19: 32,795,412 (GRCm39) D326E possibly damaging Het
Ranbp2 T A 10: 58,315,343 (GRCm39) L2021* probably null Het
Rassf5 T C 1: 131,140,077 (GRCm39) I161V probably benign Het
Ric1 C A 19: 29,548,143 (GRCm39) probably benign Het
Samd9l A G 6: 3,373,791 (GRCm39) S1157P probably damaging Het
Serpinb1a A G 13: 33,029,763 (GRCm39) V153A probably damaging Het
Shank1 T C 7: 43,968,531 (GRCm39) Y275H unknown Het
Slc6a18 C T 13: 73,823,889 (GRCm39) G84R probably damaging Het
Stxbp4 A G 11: 90,426,249 (GRCm39) S520P unknown Het
Taar8b C T 10: 23,967,205 (GRCm39) E330K probably benign Het
Tdpoz6 A G 3: 93,599,742 (GRCm39) F209S probably damaging Het
Tex14 T A 11: 87,365,239 (GRCm39) V61D Het
Tg T C 15: 66,555,522 (GRCm39) F738S probably damaging Het
Trpc4 T C 3: 54,102,254 (GRCm39) S51P possibly damaging Het
Ttn T C 2: 76,626,231 (GRCm39) S14975G probably benign Het
Usp15 C T 10: 122,961,498 (GRCm39) G685R possibly damaging Het
Usp17lc C T 7: 103,067,539 (GRCm39) P278L possibly damaging Het
Wasf1 T C 10: 40,810,571 (GRCm39) V271A possibly damaging Het
Zbtb46 C T 2: 181,065,935 (GRCm39) V72I possibly damaging Het
Zfp462 A G 4: 55,007,563 (GRCm39) M1V probably null Het
Zfp648 T C 1: 154,080,914 (GRCm39) F358L probably damaging Het
Other mutations in Smarcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Smarcc2 APN 10 128,298,924 (GRCm39) missense probably damaging 0.97
IGL01450:Smarcc2 APN 10 128,305,189 (GRCm39) missense probably damaging 1.00
IGL01638:Smarcc2 APN 10 128,323,943 (GRCm39) unclassified probably benign
IGL01663:Smarcc2 APN 10 128,324,846 (GRCm39) unclassified probably benign
IGL02308:Smarcc2 APN 10 128,318,641 (GRCm39) missense probably damaging 1.00
IGL02511:Smarcc2 APN 10 128,297,251 (GRCm39) missense probably damaging 1.00
IGL02633:Smarcc2 APN 10 128,305,556 (GRCm39) missense probably damaging 1.00
IGL03375:Smarcc2 APN 10 128,318,781 (GRCm39) missense probably damaging 0.99
IGL03493:Smarcc2 APN 10 128,297,226 (GRCm39) missense probably damaging 1.00
PIT4403001:Smarcc2 UTSW 10 128,298,893 (GRCm39) missense probably damaging 1.00
R0220:Smarcc2 UTSW 10 128,319,505 (GRCm39) missense probably benign 0.32
R0281:Smarcc2 UTSW 10 128,310,591 (GRCm39) missense probably benign 0.20
R1299:Smarcc2 UTSW 10 128,297,247 (GRCm39) missense probably damaging 1.00
R1447:Smarcc2 UTSW 10 128,305,660 (GRCm39) critical splice donor site probably null
R1466:Smarcc2 UTSW 10 128,310,114 (GRCm39) missense probably damaging 0.98
R1466:Smarcc2 UTSW 10 128,310,114 (GRCm39) missense probably damaging 0.98
R1498:Smarcc2 UTSW 10 128,318,061 (GRCm39) missense probably benign 0.02
R1499:Smarcc2 UTSW 10 128,299,741 (GRCm39) missense probably damaging 0.99
R1616:Smarcc2 UTSW 10 128,318,662 (GRCm39) missense probably damaging 1.00
R1718:Smarcc2 UTSW 10 128,304,867 (GRCm39) intron probably benign
R1767:Smarcc2 UTSW 10 128,304,951 (GRCm39) missense possibly damaging 0.92
R1792:Smarcc2 UTSW 10 128,299,740 (GRCm39) missense probably damaging 1.00
R1965:Smarcc2 UTSW 10 128,310,627 (GRCm39) missense probably damaging 1.00
R2229:Smarcc2 UTSW 10 128,324,210 (GRCm39) unclassified probably benign
R2286:Smarcc2 UTSW 10 128,299,612 (GRCm39) missense possibly damaging 0.58
R2367:Smarcc2 UTSW 10 128,318,036 (GRCm39) missense possibly damaging 0.86
R2398:Smarcc2 UTSW 10 128,305,551 (GRCm39) missense possibly damaging 0.92
R3084:Smarcc2 UTSW 10 128,324,028 (GRCm39) unclassified probably benign
R3085:Smarcc2 UTSW 10 128,324,028 (GRCm39) unclassified probably benign
R3777:Smarcc2 UTSW 10 128,318,812 (GRCm39) critical splice donor site probably null
R4346:Smarcc2 UTSW 10 128,304,692 (GRCm39) missense probably benign 0.02
R4967:Smarcc2 UTSW 10 128,319,049 (GRCm39) missense probably damaging 0.99
R4992:Smarcc2 UTSW 10 128,310,579 (GRCm39) missense probably damaging 0.99
R5028:Smarcc2 UTSW 10 128,297,314 (GRCm39) missense probably damaging 0.99
R5071:Smarcc2 UTSW 10 128,299,809 (GRCm39) missense probably damaging 1.00
R5095:Smarcc2 UTSW 10 128,305,169 (GRCm39) missense probably damaging 0.99
R5133:Smarcc2 UTSW 10 128,297,342 (GRCm39) critical splice donor site probably null
R5180:Smarcc2 UTSW 10 128,323,231 (GRCm39) unclassified probably benign
R5231:Smarcc2 UTSW 10 128,297,221 (GRCm39) missense probably damaging 1.00
R5240:Smarcc2 UTSW 10 128,316,875 (GRCm39) critical splice donor site probably null
R5401:Smarcc2 UTSW 10 128,301,373 (GRCm39) missense probably damaging 1.00
R5445:Smarcc2 UTSW 10 128,323,943 (GRCm39) unclassified probably benign
R5690:Smarcc2 UTSW 10 128,320,276 (GRCm39) missense probably damaging 1.00
R5694:Smarcc2 UTSW 10 128,319,996 (GRCm39) missense probably benign
R6240:Smarcc2 UTSW 10 128,323,893 (GRCm39) unclassified probably benign
R6545:Smarcc2 UTSW 10 128,319,997 (GRCm39) missense probably benign 0.00
R6713:Smarcc2 UTSW 10 128,323,638 (GRCm39) splice site probably null
R6934:Smarcc2 UTSW 10 128,305,541 (GRCm39) missense probably benign 0.27
R7016:Smarcc2 UTSW 10 128,321,198 (GRCm39) splice site probably null
R7149:Smarcc2 UTSW 10 128,318,598 (GRCm39) missense probably damaging 1.00
R7229:Smarcc2 UTSW 10 128,323,917 (GRCm39) missense unknown
R7395:Smarcc2 UTSW 10 128,321,475 (GRCm39) missense probably damaging 1.00
R7596:Smarcc2 UTSW 10 128,318,662 (GRCm39) missense probably damaging 1.00
R7722:Smarcc2 UTSW 10 128,317,597 (GRCm39) missense possibly damaging 0.72
R8407:Smarcc2 UTSW 10 128,318,190 (GRCm39) missense probably damaging 1.00
R8468:Smarcc2 UTSW 10 128,320,262 (GRCm39) missense probably benign 0.00
R8753:Smarcc2 UTSW 10 128,319,070 (GRCm39) missense probably damaging 1.00
R9325:Smarcc2 UTSW 10 128,324,076 (GRCm39) missense unknown
R9327:Smarcc2 UTSW 10 128,321,486 (GRCm39) missense probably damaging 1.00
R9331:Smarcc2 UTSW 10 128,323,310 (GRCm39) missense unknown
R9686:Smarcc2 UTSW 10 128,316,775 (GRCm39) missense probably damaging 1.00
R9742:Smarcc2 UTSW 10 128,297,222 (GRCm39) missense probably damaging 1.00
Z1088:Smarcc2 UTSW 10 128,297,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGGGTTAGTCTTTAGCTTTTCTCC -3'
(R):5'- TGGACACAGGCTCTAACTAAGC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCG -3'
(R):5'- AGGCTCTAACTAAGCATTCTGC -3'
Posted On 2021-10-11