Incidental Mutation 'R3085:Smarcc2'
ID 265594
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 040574-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R3085 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 128324028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000218228] [ENSMUST00000218127] [ENSMUST00000220427] [ENSMUST00000220307] [ENSMUST00000217969] [ENSMUST00000219236]
AlphaFold Q6PDG5
Predicted Effect probably benign
Transcript: ENSMUST00000026433
SMART Domains Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369

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 probably benign
Transcript: ENSMUST00000099131
SMART Domains Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369

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 unknown
Transcript: ENSMUST00000105235
AA Change: L1122P
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: L1122P

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: ENSMUST00000164181
SMART Domains Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841

DomainStartEndE-ValueType
EFh 11 39 8.98e-4 SMART
EFh 88 116 3.64e1 SMART
EFh 123 151 6.63e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217733
Predicted Effect probably benign
Transcript: ENSMUST00000217776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217913
Predicted Effect probably benign
Transcript: ENSMUST00000218228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218813
Predicted Effect probably benign
Transcript: ENSMUST00000218127
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219100
Predicted Effect probably benign
Transcript: ENSMUST00000217969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218713
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Meta Mutation Damage Score 0.1972 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,270,536 (GRCm39) probably benign Het
Adrm1 T C 2: 179,816,094 (GRCm39) probably null Het
Aldh18a1 T C 19: 40,562,813 (GRCm39) I76V probably benign Het
Atp1b2 T C 11: 69,493,705 (GRCm39) K125E possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Cdh8 T C 8: 99,923,018 (GRCm39) T293A probably benign Het
Cenpc1 A T 5: 86,185,476 (GRCm39) V345D probably benign Het
Col4a3 A G 1: 82,628,979 (GRCm39) E131G unknown Het
Col4a4 C T 1: 82,507,285 (GRCm39) probably null Het
Creb3l1 G T 2: 91,825,789 (GRCm39) probably null Het
Dhx9 T C 1: 153,341,445 (GRCm39) D601G probably benign Het
Dipk1a G T 5: 108,062,290 (GRCm39) D28E probably damaging Het
Dnaaf4 T A 9: 72,879,688 (GRCm39) N289K probably benign Het
Eml6 T C 11: 29,759,332 (GRCm39) E807G probably damaging Het
Exog C A 9: 119,291,518 (GRCm39) T241K probably benign Het
Eya1 T C 1: 14,344,314 (GRCm39) D109G probably benign Het
Fat2 C T 11: 55,142,997 (GRCm39) R4284H possibly damaging Het
Fbxw13 C A 9: 109,013,299 (GRCm39) G130* probably null Het
Fcrl5 A G 3: 87,353,771 (GRCm39) Y372C probably damaging Het
Gli3 T C 13: 15,835,526 (GRCm39) S435P probably damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Havcr1 C T 11: 46,647,052 (GRCm39) T162I probably damaging Het
Igdcc4 T C 9: 65,039,340 (GRCm39) F947S probably damaging Het
Irx1 G T 13: 72,111,411 (GRCm39) A66E probably damaging Het
Klf11 T C 12: 24,705,490 (GRCm39) S315P probably benign Het
Kynu A G 2: 43,492,312 (GRCm39) M190V probably benign Het
Lrp2 T C 2: 69,297,479 (GRCm39) T3161A probably benign Het
Macrod1 G T 19: 7,173,859 (GRCm39) A208S probably damaging Het
Mamdc2 G A 19: 23,288,296 (GRCm39) H581Y possibly damaging Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
Mthfd1l G A 10: 4,040,007 (GRCm39) R806H probably benign Het
Nags T A 11: 102,036,810 (GRCm39) V133D probably damaging Het
Nrg3 C A 14: 38,092,906 (GRCm39) D560Y probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or4p23 A G 2: 88,576,488 (GRCm39) F248S probably damaging Het
Or5af2 T C 11: 58,708,553 (GRCm39) S240P probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pde6d T C 1: 86,475,248 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,001 (GRCm39) E189G probably benign Het
Ppm1b A T 17: 85,321,288 (GRCm39) I477L probably benign Het
Rad51ap2 C A 12: 11,506,758 (GRCm39) Q227K possibly damaging Het
Rnf125 T C 18: 21,110,787 (GRCm39) V15A probably benign Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Robo1 A G 16: 72,798,898 (GRCm39) I953V possibly damaging Het
Sash1 A T 10: 8,618,186 (GRCm39) probably null Het
Stx12 T A 4: 132,584,672 (GRCm39) E224V probably damaging Het
Sun1 T C 5: 139,221,356 (GRCm39) V357A probably benign Het
Synpo2l T C 14: 20,712,248 (GRCm39) D350G probably damaging Het
Tex15 A T 8: 34,064,913 (GRCm39) N1448Y probably benign Het
Tfpi A G 2: 84,273,227 (GRCm39) probably benign Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Tmem40 T C 6: 115,718,576 (GRCm39) D43G possibly damaging Het
Tshz2 T A 2: 169,725,871 (GRCm39) C156S probably benign Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Vmn2r85 T C 10: 130,261,081 (GRCm39) M419V probably benign Het
Wdr73 G A 7: 80,550,990 (GRCm39) probably benign Het
Zc3hc1 C T 6: 30,374,763 (GRCm39) probably null Het
Zfhx3 T C 8: 109,682,664 (GRCm39) Y3368H unknown Het
Zfp263 G A 16: 3,567,580 (GRCm39) E632K probably damaging Het
Zfp266 A G 9: 20,412,240 (GRCm39) L111P probably damaging Het
Zfp626 T A 7: 27,517,587 (GRCm39) S189R probably benign Het
Zfp772 T C 7: 7,206,699 (GRCm39) R331G possibly damaging Het
Zkscan5 G A 5: 145,157,889 (GRCm39) C797Y 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
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
R9023:Smarcc2 UTSW 10 128,301,093 (GRCm39) missense probably damaging 0.98
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'- TCCTCCCTCAATGATGCCAG -3'
(R):5'- ATAATGTAGAGCCCTCTCCCTCAC -3'

Sequencing Primer
(F):5'- GCGGGTAATGCTCCTTT -3'
(R):5'- CTTCTCACCTGGCAGTGG -3'
Posted On 2015-02-05