Incidental Mutation 'R6545:Smarcc2'
ID 521124
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 044671-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128319997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 790 (I790T)
Ref Sequence ENSEMBL: ENSMUSP00000100868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]
AlphaFold Q6PDG5
Predicted Effect probably benign
Transcript: ENSMUST00000026433
AA Change: I790T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: I790T

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
AA Change: I821T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: I821T

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 benign
Transcript: ENSMUST00000105235
AA Change: I790T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: I790T

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 noncoding transcript
Transcript: ENSMUST00000217751
Predicted Effect probably benign
Transcript: ENSMUST00000218228
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign 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
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'- GGCAGACCAACATCTTGTCC -3'
(R):5'- AACTGTGTCAGGTCGAAGGTTG -3'

Sequencing Primer
(F):5'- GCTTTGGCATGTGCACAC -3'
(R):5'- TCAGGTCGAAGGTTGAATTAGCC -3'
Posted On 2018-06-06