Incidental Mutation 'R6240:Smarcc2'
ID 505187
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 044364-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R6240 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 128323893 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] [ENSMUST00000220307] [ENSMUST00000218228] [ENSMUST00000218127] [ENSMUST00000219236] [ENSMUST00000217969] [ENSMUST00000220427]
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: A1077V
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: A1077V

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 probably benign
Transcript: ENSMUST00000220307
Predicted Effect probably benign
Transcript: ENSMUST00000218228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218813
Predicted Effect probably benign
Transcript: ENSMUST00000218127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218713
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Predicted Effect probably benign
Transcript: ENSMUST00000217969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C A 14: 64,223,701 (GRCm39) R25L probably damaging Het
Adamts1 G A 16: 85,599,045 (GRCm39) S185L probably benign Het
Adamts12 A T 15: 11,286,044 (GRCm39) D751V probably benign Het
Adgrg3 A G 8: 95,766,544 (GRCm39) D405G probably benign Het
Ahi1 A G 10: 20,852,980 (GRCm39) D516G probably damaging Het
Ahnak A T 19: 8,990,947 (GRCm39) D4077V probably damaging Het
Arhgef18 G A 8: 3,489,658 (GRCm39) R330Q probably damaging Het
Arid1a A G 4: 133,407,997 (GRCm39) V2170A unknown Het
Asxl3 C T 18: 22,598,565 (GRCm39) L227F probably damaging Het
B3glct A G 5: 149,650,253 (GRCm39) I119V probably benign Het
Brd10 A T 19: 29,694,640 (GRCm39) S1618T probably benign Het
Cad T A 5: 31,230,322 (GRCm39) M1512K probably benign Het
Cdc25a A G 9: 109,713,226 (GRCm39) T172A probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Clmp A G 9: 40,693,707 (GRCm39) N308S probably damaging Het
Dlg5 A T 14: 24,199,596 (GRCm39) probably null Het
Dscam G A 16: 96,420,702 (GRCm39) T1728M probably damaging Het
E4f1 A G 17: 24,663,556 (GRCm39) S524P possibly damaging Het
Epha5 G C 5: 84,265,438 (GRCm39) A452G probably benign Het
Fzd3 T C 14: 65,447,304 (GRCm39) T542A probably damaging Het
Glyctk A T 9: 106,033,461 (GRCm39) probably null Het
Gm10382 G A 5: 125,466,660 (GRCm39) probably benign Het
Hnmt T A 2: 23,904,281 (GRCm39) M127L probably benign Het
Hoxc10 T A 15: 102,879,265 (GRCm39) W262R probably damaging Het
Icam5 T A 9: 20,944,454 (GRCm39) W52R possibly damaging Het
Jazf1 A T 6: 52,754,537 (GRCm39) C180S probably damaging Het
Kcnk2 A G 1: 188,975,179 (GRCm39) W286R probably damaging Het
Kcnmb2 C T 3: 32,236,045 (GRCm39) S98F probably damaging Het
Mob3a C G 10: 80,525,698 (GRCm39) E204D possibly damaging Het
Morc3 C G 16: 93,659,572 (GRCm39) H459D probably damaging Het
Mroh2b A T 15: 4,964,126 (GRCm39) N876I probably benign Het
Myo16 A T 8: 10,420,930 (GRCm39) T257S probably damaging Het
Nat1 A T 8: 67,944,354 (GRCm39) R243S possibly damaging Het
Nudt9 T C 5: 104,194,955 (GRCm39) V17A probably benign Het
Or13p8 A G 4: 118,583,668 (GRCm39) S75G probably benign Het
Or4c111 A G 2: 88,843,970 (GRCm39) I146T probably benign Het
Or4c11c A G 2: 88,661,707 (GRCm39) D82G probably benign Het
Or4m1 A G 14: 50,558,043 (GRCm39) V83A probably benign Het
Or6c70 C A 10: 129,710,546 (GRCm39) V27L probably benign Het
Pcdh7 T C 5: 57,878,704 (GRCm39) L753P probably damaging Het
Pcf11 T A 7: 92,295,710 (GRCm39) E1446D probably damaging Het
Pepd A G 7: 34,721,176 (GRCm39) I267V probably benign Het
Plk2 T A 13: 110,536,008 (GRCm39) Y571N probably damaging Het
Plk2 T A 13: 110,536,568 (GRCm39) V620E probably damaging Het
Prag1 T C 8: 36,570,506 (GRCm39) L363P probably benign Het
Psmd3 A G 11: 98,584,479 (GRCm39) T387A probably damaging Het
Ptgs1 G A 2: 36,127,297 (GRCm39) C61Y probably damaging Het
Rab18 T C 18: 6,784,635 (GRCm39) Y109H probably benign Het
Robo2 G A 16: 73,779,027 (GRCm39) P358L probably damaging Het
Spata31e4 G A 13: 50,855,453 (GRCm39) D364N probably damaging Het
Srgap1 A G 10: 121,883,061 (GRCm39) I13T probably benign Het
Tcf12 T A 9: 71,851,298 (GRCm39) K110* probably null Het
Tdrd1 T C 19: 56,829,767 (GRCm39) S214P probably benign Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Tmem255b A G 8: 13,504,216 (GRCm39) Y136C probably damaging Het
Tmem63c A T 12: 87,123,179 (GRCm39) I448F possibly damaging Het
Tnpo1 T C 13: 99,000,337 (GRCm39) I335M probably damaging Het
Vmn1r1 T C 1: 181,985,186 (GRCm39) T160A probably damaging Het
Vmn1r203 A G 13: 22,708,899 (GRCm39) N227D possibly damaging Het
Vmn2r6 T A 3: 64,464,226 (GRCm39) S203C probably damaging Het
Zfp628 A G 7: 4,922,848 (GRCm39) T357A possibly damaging Het
Zfp872 A G 9: 22,111,180 (GRCm39) K220E 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
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'- CAGCTTATTCTAGTGCCAGGAG -3'
(R):5'- GATGTAGAGGGTTCGCCATG -3'

Sequencing Primer
(F):5'- CTTATTCTAGTGCCAGGAGAAAGG -3'
(R):5'- TAGAGGGTTCGCCATGGACAC -3'
Posted On 2018-02-28