Incidental Mutation 'R2229:Smarcc2'
ID 239617
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 040230-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R2229 (G1)
Quality Score 176
Status Validated
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 128324210 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] [ENSMUST00000217969] [ENSMUST00000219236] [ENSMUST00000220427] [ENSMUST00000218127] [ENSMUST00000218228] [ENSMUST00000220307]
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: S1183G
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: S1183G

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: ENSMUST00000217969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218713
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Predicted Effect probably benign
Transcript: ENSMUST00000218127
Predicted Effect probably benign
Transcript: ENSMUST00000218228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218813
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Adgb A T 10: 10,311,795 (GRCm39) V212E probably damaging Het
Adgrg7 C T 16: 56,572,766 (GRCm39) S350N probably benign Het
Agbl1 A G 7: 76,083,126 (GRCm39) T448A probably benign Het
Aldh1l1 C G 6: 90,560,168 (GRCm39) T605R probably damaging Het
Arfip1 A T 3: 84,455,280 (GRCm39) N18K probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Banp G A 8: 122,705,424 (GRCm39) S98N probably damaging Het
Btnl9 T C 11: 49,059,945 (GRCm39) D601G probably damaging Het
C9 T C 15: 6,474,901 (GRCm39) I20T possibly damaging Het
Cacna1b A G 2: 24,575,816 (GRCm39) V744A probably damaging Het
Catsper3 A G 13: 55,955,867 (GRCm39) E311G probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cdc5l A G 17: 45,718,772 (GRCm39) Y615H probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Eml4 C T 17: 83,758,485 (GRCm39) P502S probably benign Het
Fsip1 T C 2: 118,052,925 (GRCm39) E367G probably benign Het
Gja3 T C 14: 57,274,171 (GRCm39) D67G probably damaging Het
Gm4894 T C 9: 49,185,490 (GRCm39) probably benign Het
Gm7853 A G 14: 35,811,484 (GRCm39) noncoding transcript Het
Gmps T G 3: 63,921,684 (GRCm39) Y562* probably null Het
Golga2 C A 2: 32,196,477 (GRCm39) P976T probably benign Het
Gpr182 T A 10: 127,586,010 (GRCm39) I314F possibly damaging Het
Gprc6a A G 10: 51,502,891 (GRCm39) V324A possibly damaging Het
Gykl1 A G 18: 52,828,339 (GRCm39) T516A probably benign Het
H2ac21 T C 3: 96,127,422 (GRCm39) L64P possibly damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Kif3c T A 12: 3,416,671 (GRCm39) S231T probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lmnb2 T C 10: 80,740,226 (GRCm39) probably benign Het
Lrrc69 T C 4: 14,773,694 (GRCm39) S121G probably benign Het
Mppe1 A G 18: 67,361,082 (GRCm39) probably null Het
Muc5b T A 7: 141,415,381 (GRCm39) C2776S possibly damaging Het
Myh8 T G 11: 67,199,174 (GRCm39) N1893K probably damaging Het
Myo7a T C 7: 97,704,117 (GRCm39) T1932A probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Nek5 A T 8: 22,603,648 (GRCm39) N151K possibly damaging Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Oca2 T A 7: 56,006,903 (GRCm39) H663Q probably benign Het
Optn T A 2: 5,028,928 (GRCm39) H525L probably damaging Het
Pdzph1 A G 17: 59,239,407 (GRCm39) probably benign Het
Pikfyve A G 1: 65,307,014 (GRCm39) K1801E probably damaging Het
Pkd2l2 G A 18: 34,563,382 (GRCm39) V478M probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Prpf19 A G 19: 10,874,962 (GRCm39) T39A probably benign Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Rcan3 T C 4: 135,152,688 (GRCm39) D11G probably benign Het
Rgsl1 C A 1: 153,698,104 (GRCm39) W482L possibly damaging Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Slc4a8 T C 15: 100,707,180 (GRCm39) I848T probably damaging Het
Slc7a13 T C 4: 19,839,399 (GRCm39) V334A probably benign Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Spats2 T C 15: 99,072,334 (GRCm39) probably null Het
Tas2r104 G A 6: 131,662,095 (GRCm39) H205Y probably damaging Het
Tcof1 A G 18: 60,965,249 (GRCm39) probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Trim25 T A 11: 88,907,447 (GRCm39) V602E probably damaging Het
Ttll9 A G 2: 152,824,983 (GRCm39) E54G probably damaging Het
Ttn T C 2: 76,559,668 (GRCm39) T29578A probably damaging Het
Tubgcp5 A G 7: 55,480,629 (GRCm39) Q960R probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp13 A G 3: 32,971,700 (GRCm39) I727V probably benign Het
Vmn2r67 T A 7: 84,801,250 (GRCm39) I229F probably benign Het
Vmn2r92 A C 17: 18,387,654 (GRCm39) I220L probably benign Het
Wnk4 T A 11: 101,166,467 (GRCm39) probably benign Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc5 A G 2: 84,520,557 (GRCm39) I540T probably damaging Het
Zfp729b T C 13: 67,743,384 (GRCm39) I60M 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
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
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'- ATGGGCATCACCACCATCTC -3'
(R):5'- GTCCTCTGAACCACTGGATTCC -3'

Sequencing Primer
(F):5'- ATCACCACCATCTCCCGTTTG -3'
(R):5'- GATTCCTCCATGACCCACCAGTG -3'
Posted On 2014-10-15