Incidental Mutation 'R4299:Smc2'
ID 323466
Institutional Source Beutler Lab
Gene Symbol Smc2
Ensembl Gene ENSMUSG00000028312
Gene Name structural maintenance of chromosomes 2
Synonyms 5730502P04Rik, CAP-E, Fin16, Smc2l1
MMRRC Submission 041087-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R4299 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 52439243-52488260 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to T at 52440238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102915] [ENSMUST00000117280] [ENSMUST00000142227]
AlphaFold Q8CG48
Predicted Effect probably benign
Transcript: ENSMUST00000102915
SMART Domains Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312

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 benign
Transcript: ENSMUST00000117280
SMART Domains Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312

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 noncoding transcript
Transcript: ENSMUST00000141473
Predicted Effect probably benign
Transcript: ENSMUST00000142227
SMART Domains Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (76/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Akna A T 4: 63,316,269 (GRCm39) D31E possibly damaging Het
Apbb2 A T 5: 66,470,721 (GRCm39) H528Q probably damaging Het
Atp6v1g3 C A 1: 138,211,462 (GRCm39) Y47* probably null Het
AW551984 T C 9: 39,504,275 (GRCm39) T564A probably benign Het
C4b T C 17: 34,950,118 (GRCm39) D1384G possibly damaging Het
Cbfa2t2 G A 2: 154,365,848 (GRCm39) V353I probably damaging Het
Ccdc121 A G 5: 31,644,870 (GRCm39) R208G possibly damaging Het
Cdh20 T C 1: 109,988,731 (GRCm39) I211T probably damaging Het
Cep170b T C 12: 112,705,739 (GRCm39) S1166P probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs G A 16: 22,624,161 (GRCm39) Q149* probably null Het
Cyp2c70 T C 19: 40,172,372 (GRCm39) Q90R probably benign Het
Cyp3a41b T C 5: 145,510,487 (GRCm39) Y129C possibly damaging Het
Dnah10 A G 5: 124,896,989 (GRCm39) T3645A probably damaging Het
Dnai3 C T 3: 145,774,561 (GRCm39) D429N probably damaging Het
Dolk A T 2: 30,175,200 (GRCm39) W282R probably damaging Het
Dsg2 T A 18: 20,729,008 (GRCm39) probably null Het
Dysf A G 6: 84,045,059 (GRCm39) T297A possibly damaging Het
Flt1 G T 5: 147,620,717 (GRCm39) D142E probably benign Het
Frmd4a C A 2: 4,337,882 (GRCm39) N29K probably benign Het
Fxyd7 A T 7: 30,744,407 (GRCm39) M36K probably benign Het
Gabbr1 C T 17: 37,366,792 (GRCm39) R178* probably null Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Il1rapl1 A T X: 86,344,313 (GRCm39) I194N probably damaging Het
Kics2 C A 10: 121,581,351 (GRCm39) H117Q probably benign Het
Klhl24 T C 16: 19,925,754 (GRCm39) M94T probably damaging Het
Kmt2e T A 5: 23,669,912 (GRCm39) I133N probably damaging Het
Macf1 A G 4: 123,293,199 (GRCm39) I5381T probably damaging Het
Madd A G 2: 91,000,148 (GRCm39) L197P probably damaging Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Micall2 T C 5: 139,695,226 (GRCm39) probably benign Het
Myh9 T C 15: 77,654,164 (GRCm39) T1214A probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Neurl4 A C 11: 69,799,887 (GRCm39) D1055A probably damaging Het
Nrbp1 T C 5: 31,407,943 (GRCm39) probably null Het
Or13a20 T C 7: 140,232,156 (GRCm39) V88A probably benign Het
Or1e21 A T 11: 73,344,827 (GRCm39) D70E probably damaging Het
Or52z1 T A 7: 103,437,202 (GRCm39) H94L probably benign Het
Or5j3 A T 2: 86,128,585 (GRCm39) I142F possibly damaging Het
Or6k8-ps1 T A 1: 173,979,878 (GRCm39) Y265* probably null Het
Or8b42 T G 9: 38,342,108 (GRCm39) Y177D probably damaging Het
Or8d1b T A 9: 38,887,055 (GRCm39) F28I probably damaging Het
Or8g19 T C 9: 39,056,295 (GRCm39) S300P probably benign Het
Patj C A 4: 98,565,558 (GRCm39) N1090K possibly damaging Het
Pde8a A G 7: 80,977,783 (GRCm39) D692G probably benign Het
Ppa2 G T 3: 133,073,603 (GRCm39) K220N probably damaging Het
Pramel32 T C 4: 88,546,419 (GRCm39) K137E probably damaging Het
Ptgr3 A T 18: 84,112,626 (GRCm39) I101F possibly damaging Het
Rad54b A G 4: 11,597,865 (GRCm39) H250R probably damaging Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rgs14 A G 13: 55,531,566 (GRCm39) T497A probably damaging Het
Rpl13-ps3 T A 14: 59,130,972 (GRCm39) noncoding transcript Het
Scn11a T G 9: 119,594,572 (GRCm39) I1274L probably damaging Het
Sco1 A T 11: 66,946,626 (GRCm39) H133L possibly damaging Het
Slc4a8 T C 15: 100,694,521 (GRCm39) probably null Het
Spata18 T C 5: 73,824,245 (GRCm39) I156T probably benign Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stt3a A G 9: 36,674,640 (GRCm39) F48L probably damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Telo2 A T 17: 25,334,230 (GRCm39) S6T possibly damaging Het
Tnfrsf11b T C 15: 54,115,491 (GRCm39) M369V probably benign Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Vmn1r234 A T 17: 21,449,283 (GRCm39) M66L probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Wdfy2 T A 14: 63,162,589 (GRCm39) L97* probably null Het
Xrcc5 T C 1: 72,433,879 (GRCm39) *733Q probably null Het
Zfp1004 G A 2: 150,032,653 (GRCm39) D17N probably damaging Het
Zfp516 G A 18: 83,005,622 (GRCm39) G842D possibly damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) probably null 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
R2318:Smc2 UTSW 4 52,446,030 (GRCm39) missense probably damaging 1.00
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
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'- TGGATGTTTTAAAATCTGAGCCAGC -3'
(R):5'- ACAGGTTGGAGATGCCTAGG -3'

Sequencing Primer
(F):5'- AAATCTGAGCCAGCTGTTTTTAGGAG -3'
(R):5'- CCTAGGAGAAAGCATATGGAGTCC -3'
Posted On 2015-06-20