Incidental Mutation 'R2318:Smc2'
ID 245548
Institutional Source Beutler Lab
Gene Symbol Smc2
Ensembl Gene ENSMUSG00000028312
Gene Name structural maintenance of chromosomes 2
Synonyms 5730502P04Rik, CAP-E, Fin16, Smc2l1
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R2318 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 52439243-52488260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52446030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 133 (S133P)
Ref Sequence ENSEMBL: ENSMUSP00000114228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102915] [ENSMUST00000117280] [ENSMUST00000142227]
AlphaFold Q8CG48
Predicted Effect probably damaging
Transcript: ENSMUST00000102915
AA Change: S133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: S133P

DomainStartEndE-ValueType
internal_repeat_1 146 174 2.4e-6 PROSPERO
low complexity region 183 207 N/A INTRINSIC
coiled coil region 238 355 N/A INTRINSIC
coiled coil region 400 503 N/A INTRINSIC
SMC_hinge 520 640 3.8e-34 SMART
coiled coil region 676 880 N/A INTRINSIC
coiled coil region 984 1031 N/A INTRINSIC
PDB:4I99|B 1034 1186 3e-15 PDB
SCOP:d1e69a_ 1066 1144 2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117280
AA Change: S133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: S133P

DomainStartEndE-ValueType
Pfam:AAA_21 27 131 3.8e-6 PFAM
internal_repeat_1 146 174 2.4e-6 PROSPERO
low complexity region 183 207 N/A INTRINSIC
coiled coil region 238 355 N/A INTRINSIC
coiled coil region 400 503 N/A INTRINSIC
SMC_hinge 520 640 3.8e-34 SMART
coiled coil region 676 880 N/A INTRINSIC
coiled coil region 984 1031 N/A INTRINSIC
PDB:4I99|B 1034 1186 3e-15 PDB
SCOP:d1e69a_ 1066 1144 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131163
Predicted Effect probably damaging
Transcript: ENSMUST00000142227
AA Change: S133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312
AA Change: S133P

DomainStartEndE-ValueType
Pfam:SMC_N 2 351 2.3e-36 PFAM
Pfam:AAA_21 27 131 1.7e-8 PFAM
coiled coil region 400 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146787
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a component of both condensin I and condensin II complexes, and forms a heterodimer with structural maintenance of chromosome 4 (Smc4). This heterodimer is the catalytic subunit for both condensin complexes, and is involved in several processes, including chromosome condensation during mitosis and meiosis, cohesin removal during mitosis and meiosis, and single-strand break (SSB) repair. Reduced expression of this gene results in chromosome segregation defects during mitosis and meiosis, with a more severe defect observed in embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die embryonically. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 G A 8: 14,978,855 (GRCm39) A41T probably damaging Het
Car15 T C 16: 17,654,463 (GRCm39) M158V probably benign Het
Cinp C A 12: 110,840,443 (GRCm39) W113L probably damaging Het
Col4a3 T A 1: 82,626,290 (GRCm39) probably null Het
Csnk2b T C 17: 35,337,037 (GRCm39) Y101C possibly damaging Het
Ddb1 C T 19: 10,603,992 (GRCm39) R900C probably damaging Het
Eif4g2 A G 7: 110,673,065 (GRCm39) F876L possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
H4c4 A G 13: 23,765,739 (GRCm39) Y52C probably damaging Het
Mast1 T C 8: 85,647,754 (GRCm39) D540G probably damaging Het
Mis18bp1 C T 12: 65,187,617 (GRCm39) V829M possibly damaging Het
Mtus2 C T 5: 148,043,892 (GRCm39) R827* probably null Het
Nlrp9a G A 7: 26,273,277 (GRCm39) V860M probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prr14l T C 5: 32,987,422 (GRCm39) E691G probably benign Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Sanbr A G 11: 23,538,701 (GRCm39) Y66H probably damaging Het
Slc10a4-ps T C 5: 72,743,638 (GRCm39) T27A probably benign Het
Sstr1 T A 12: 58,259,562 (GRCm39) S62T possibly damaging Het
Thsd7a T C 6: 12,405,146 (GRCm39) Y766C probably damaging Het
Timm44 A G 8: 4,318,307 (GRCm39) V129A probably benign Het
Tinag T C 9: 76,952,693 (GRCm39) Y97C probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubap2 A G 4: 41,251,542 (GRCm39) V30A probably damaging Het
Other mutations in Smc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Smc2 APN 4 52,450,842 (GRCm39) missense probably damaging 1.00
IGL02045:Smc2 APN 4 52,462,914 (GRCm39) missense probably benign 0.01
IGL03013:Smc2 APN 4 52,442,280 (GRCm39) missense probably damaging 1.00
IGL03031:Smc2 APN 4 52,449,638 (GRCm39) missense probably benign 0.35
IGL03246:Smc2 APN 4 52,440,301 (GRCm39) nonsense probably null
Janitor UTSW 4 52,478,448 (GRCm39) missense probably damaging 1.00
R0539:Smc2 UTSW 4 52,458,558 (GRCm39) missense probably benign 0.01
R0782:Smc2 UTSW 4 52,469,799 (GRCm39) missense probably benign 0.30
R1908:Smc2 UTSW 4 52,450,863 (GRCm39) missense probably damaging 0.97
R2054:Smc2 UTSW 4 52,462,948 (GRCm39) missense probably benign 0.00
R2109:Smc2 UTSW 4 52,474,987 (GRCm39) missense probably benign 0.00
R2352:Smc2 UTSW 4 52,460,266 (GRCm39) missense probably benign
R3418:Smc2 UTSW 4 52,476,850 (GRCm39) splice site probably benign
R4003:Smc2 UTSW 4 52,462,897 (GRCm39) missense probably damaging 1.00
R4133:Smc2 UTSW 4 52,450,947 (GRCm39) missense probably damaging 0.99
R4299:Smc2 UTSW 4 52,440,238 (GRCm39) utr 5 prime probably benign
R4547:Smc2 UTSW 4 52,467,866 (GRCm39) missense probably benign 0.09
R4787:Smc2 UTSW 4 52,462,927 (GRCm39) missense probably damaging 0.98
R4816:Smc2 UTSW 4 52,451,231 (GRCm39) missense probably benign 0.00
R4829:Smc2 UTSW 4 52,449,612 (GRCm39) missense probably damaging 0.98
R4861:Smc2 UTSW 4 52,461,090 (GRCm39) missense probably benign 0.14
R4861:Smc2 UTSW 4 52,461,090 (GRCm39) missense probably benign 0.14
R4951:Smc2 UTSW 4 52,462,926 (GRCm39) missense possibly damaging 0.95
R4963:Smc2 UTSW 4 52,450,826 (GRCm39) missense probably damaging 1.00
R4996:Smc2 UTSW 4 52,461,042 (GRCm39) splice site probably null
R5028:Smc2 UTSW 4 52,458,447 (GRCm39) missense probably damaging 0.96
R5103:Smc2 UTSW 4 52,459,033 (GRCm39) missense probably damaging 1.00
R5159:Smc2 UTSW 4 52,460,181 (GRCm39) missense possibly damaging 0.65
R5387:Smc2 UTSW 4 52,475,096 (GRCm39) missense probably benign 0.16
R5697:Smc2 UTSW 4 52,459,045 (GRCm39) missense probably benign 0.01
R6006:Smc2 UTSW 4 52,459,024 (GRCm39) missense probably benign
R6246:Smc2 UTSW 4 52,460,289 (GRCm39) missense probably damaging 1.00
R6321:Smc2 UTSW 4 52,462,814 (GRCm39) missense probably benign
R6590:Smc2 UTSW 4 52,449,375 (GRCm39) missense probably benign 0.01
R6658:Smc2 UTSW 4 52,451,322 (GRCm39) missense probably benign 0.21
R6690:Smc2 UTSW 4 52,449,375 (GRCm39) missense probably benign 0.01
R7422:Smc2 UTSW 4 52,440,301 (GRCm39) missense probably benign 0.02
R7486:Smc2 UTSW 4 52,462,861 (GRCm39) missense possibly damaging 0.54
R7487:Smc2 UTSW 4 52,478,448 (GRCm39) missense probably damaging 1.00
R7532:Smc2 UTSW 4 52,451,013 (GRCm39) missense probably damaging 1.00
R7556:Smc2 UTSW 4 52,457,379 (GRCm39) missense probably benign 0.03
R7912:Smc2 UTSW 4 52,450,854 (GRCm39) missense probably benign 0.00
R7953:Smc2 UTSW 4 52,470,911 (GRCm39) critical splice donor site probably null
R7979:Smc2 UTSW 4 52,450,857 (GRCm39) missense probably damaging 1.00
R8343:Smc2 UTSW 4 52,450,965 (GRCm39) missense probably benign
R8344:Smc2 UTSW 4 52,449,376 (GRCm39) missense probably benign 0.01
R8495:Smc2 UTSW 4 52,450,992 (GRCm39) missense probably benign 0.00
R8880:Smc2 UTSW 4 52,462,856 (GRCm39) missense probably benign 0.00
R8988:Smc2 UTSW 4 52,475,100 (GRCm39) missense probably benign
R9201:Smc2 UTSW 4 52,446,044 (GRCm39) missense probably damaging 1.00
R9263:Smc2 UTSW 4 52,470,848 (GRCm39) missense possibly damaging 0.89
R9287:Smc2 UTSW 4 52,449,361 (GRCm39) missense probably damaging 1.00
R9534:Smc2 UTSW 4 52,462,870 (GRCm39) missense probably damaging 1.00
RF006:Smc2 UTSW 4 52,442,276 (GRCm39) missense probably benign 0.03
X0065:Smc2 UTSW 4 52,440,370 (GRCm39) missense probably damaging 1.00
Z1176:Smc2 UTSW 4 52,481,682 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGCTATTTATACAGAATAGCGC -3'
(R):5'- AGTCTGACATGTGACTTTTCCC -3'

Sequencing Primer
(F):5'- GGTTATTGGTGGCAGAAAT -3'
(R):5'- CCTAACTTAGTACATATTGGCTTCAC -3'
Posted On 2014-10-30