Incidental Mutation 'R4992:Smarcc2'
ID 386276
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 042586-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R4992 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128310579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 403 (K403E)
Ref Sequence ENSEMBL: ENSMUSP00000096734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]
AlphaFold Q6PDG5
Predicted Effect probably damaging
Transcript: ENSMUST00000026433
AA Change: K403E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: K403E

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 damaging
Transcript: ENSMUST00000099131
AA Change: K403E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: K403E

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: K403E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: K403E

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
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (84/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,948,203 (GRCm39) R700Q possibly damaging Het
4930444P10Rik T A 1: 16,151,101 (GRCm39) E27V probably damaging Het
Acsm4 T A 7: 119,310,640 (GRCm39) I509N probably benign Het
Asb18 T C 1: 89,880,585 (GRCm39) M143V probably benign Het
Birc6 A G 17: 74,996,251 (GRCm39) D4475G probably benign Het
Bsn A T 9: 107,992,747 (GRCm39) S1002T probably damaging Het
Bub3 T C 7: 131,162,535 (GRCm39) S33P probably damaging Het
Ccna1 T A 3: 54,957,311 (GRCm39) R35S probably damaging Het
Cdc23 T A 18: 34,779,972 (GRCm39) M119L probably benign Het
Ces1a A G 8: 93,771,650 (GRCm39) V49A probably benign Het
Chi3l1 A T 1: 134,116,364 (GRCm39) E282D probably benign Het
Crocc G A 4: 140,773,977 (GRCm39) A220V probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dennd5a A G 7: 109,493,919 (GRCm39) S1262P probably damaging Het
Dnajb5 G A 4: 42,953,386 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,357,064 (GRCm39) K200R unknown Het
Ect2l A G 10: 18,048,477 (GRCm39) F156S probably benign Het
Egf T C 3: 129,505,179 (GRCm39) probably null Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Elmo3 T A 8: 106,036,133 (GRCm39) Y607* probably null Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Ephb2 A G 4: 136,388,150 (GRCm39) V651A probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gcn1 T C 5: 115,737,225 (GRCm39) V1321A probably benign Het
Gimd1 A T 3: 132,340,718 (GRCm39) Y78F probably benign Het
Glmn T G 5: 107,705,167 (GRCm39) D483A probably damaging Het
Gsr C T 8: 34,183,941 (GRCm39) T401I probably damaging Het
Htr3b G A 9: 48,870,518 (GRCm39) H62Y possibly damaging Het
Ifna6 T C 4: 88,745,777 (GRCm39) V42A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4b A T 8: 82,759,837 (GRCm39) R627S probably damaging Het
Kif13a C T 13: 46,930,639 (GRCm39) V142M probably damaging Het
Lims1 A C 10: 58,246,063 (GRCm39) probably benign Het
Ltn1 T C 16: 87,202,475 (GRCm39) T1059A possibly damaging Het
Lyst T C 13: 13,835,748 (GRCm39) L1810P probably damaging Het
Mboat1 T G 13: 30,386,343 (GRCm39) I119R possibly damaging Het
Mgat3 T A 15: 80,096,743 (GRCm39) D523E probably benign Het
Mphosph9 T C 5: 124,442,253 (GRCm39) E395G probably damaging Het
Mtcl1 G T 17: 66,649,834 (GRCm39) P1877Q probably damaging Het
Myo6 T C 9: 80,190,792 (GRCm39) V781A possibly damaging Het
Ncoa3 T A 2: 165,911,859 (GRCm39) M1395K probably benign Het
Nhlrc2 T A 19: 56,558,966 (GRCm39) D150E probably benign Het
Nlrp9a T C 7: 26,256,811 (GRCm39) V54A probably benign Het
Or1e32 G A 11: 73,705,146 (GRCm39) T254I probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Parp14 A T 16: 35,661,512 (GRCm39) C1479S probably benign Het
Pdcd1lg2 T C 19: 29,423,484 (GRCm39) V176A probably damaging Het
Pibf1 T A 14: 99,388,103 (GRCm39) N416K probably damaging Het
Pip4p1 A G 14: 51,166,690 (GRCm39) V179A probably damaging Het
Polb A T 8: 23,135,087 (GRCm39) V115E probably damaging Het
Polq T A 16: 36,881,524 (GRCm39) N1229K possibly damaging Het
Ppp1r21 A T 17: 88,876,508 (GRCm39) D440V probably benign Het
Ppp2ca T A 11: 52,004,033 (GRCm39) H63Q possibly damaging Het
Prl7a1 C T 13: 27,819,669 (GRCm39) probably null Het
Rgs1 C A 1: 144,122,060 (GRCm39) K77N probably damaging Het
Rnf112 T A 11: 61,343,537 (GRCm39) I100F possibly damaging Het
Rnf139 G T 15: 58,770,325 (GRCm39) E117* probably null Het
Robo1 G A 16: 72,776,756 (GRCm39) V743I probably damaging Het
Scarf1 T C 11: 75,413,056 (GRCm39) L434P probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sgsm1 A T 5: 113,430,486 (GRCm39) S300T possibly damaging Het
Slc26a7 T G 4: 14,565,508 (GRCm39) T192P probably damaging Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Sptlc3 G A 2: 139,437,923 (GRCm39) V406I probably benign Het
Tgds A C 14: 118,355,175 (GRCm39) Y197D probably damaging Het
Tll1 G T 8: 64,546,978 (GRCm39) R323S probably damaging Het
Trim14 A G 4: 46,507,110 (GRCm39) Y369H probably damaging Het
Ube2nl C T 7: 61,199,112 (GRCm39) noncoding transcript Het
Ube3a T A 7: 58,934,568 (GRCm39) D560E possibly damaging Het
Vmn2r10 A G 5: 109,145,592 (GRCm39) V505A possibly damaging Het
Vmn2r114 T G 17: 23,510,765 (GRCm39) I572L probably benign Het
Vmn2r26 A T 6: 124,003,070 (GRCm39) Q160L probably benign Het
Vmn2r75 A C 7: 85,815,375 (GRCm39) probably null Het
Vps8 A G 16: 21,280,158 (GRCm39) K336E possibly damaging Het
Zfp324 T C 7: 12,703,300 (GRCm39) S32P probably benign Het
Zfp366 T C 13: 99,366,003 (GRCm39) I388T possibly damaging Het
Zfp68 A T 5: 138,605,599 (GRCm39) N203K possibly damaging Het
Zhx2 A T 15: 57,686,983 (GRCm39) N784I 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
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'- TCCCGCCATAGCTGAATTG -3'
(R):5'- CAAGGGGCTCTAAGCTGTAG -3'

Sequencing Primer
(F):5'- CGCCATAGCTGAATTGTGCCTG -3'
(R):5'- TCTAAGCTGTAGAGGGGCAAC -3'
Posted On 2016-05-10