Incidental Mutation 'R5729:Skor2'
ID 452689
Institutional Source Beutler Lab
Gene Symbol Skor2
Ensembl Gene ENSMUSG00000091519
Gene Name SKI family transcriptional corepressor 2
Synonyms Corl2, Fussel18, Gm7348
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5729 (G1)
Quality Score 177
Status Validated
Chromosome 18
Chromosomal Location 76944100-76988037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76946578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 100 (E100G)
Ref Sequence ENSEMBL: ENSMUSP00000132338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166956]
AlphaFold A7M7C7
Predicted Effect unknown
Transcript: ENSMUST00000166956
AA Change: E100G
SMART Domains Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: E100G

DomainStartEndE-ValueType
Pfam:Ski_Sno 25 132 2.3e-41 PFAM
c-SKI_SMAD_bind 144 236 6.92e-55 SMART
low complexity region 261 305 N/A INTRINSIC
low complexity region 320 373 N/A INTRINSIC
low complexity region 426 452 N/A INTRINSIC
low complexity region 478 491 N/A INTRINSIC
low complexity region 513 551 N/A INTRINSIC
low complexity region 578 595 N/A INTRINSIC
low complexity region 645 680 N/A INTRINSIC
low complexity region 688 707 N/A INTRINSIC
low complexity region 722 741 N/A INTRINSIC
low complexity region 747 766 N/A INTRINSIC
low complexity region 817 838 N/A INTRINSIC
low complexity region 842 857 N/A INTRINSIC
Meta Mutation Damage Score 0.8085 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
MGI Phenotype PHENOTYPE: Mice homozygous for null mutations display neonatal and postnatal lethality, abnormal cerebellum development, and abnormal Purkinje cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably damaging Het
Other mutations in Skor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Skor2 APN 18 76,946,362 (GRCm39) missense unknown
IGL01604:Skor2 APN 18 76,947,646 (GRCm39) missense possibly damaging 0.93
IGL02306:Skor2 APN 18 76,950,374 (GRCm39) missense probably benign 0.01
IGL03287:Skor2 APN 18 76,963,830 (GRCm39) missense probably damaging 0.99
R0225:Skor2 UTSW 18 76,946,793 (GRCm39) missense unknown
R0265:Skor2 UTSW 18 76,964,293 (GRCm39) missense probably damaging 0.99
R0650:Skor2 UTSW 18 76,964,255 (GRCm39) missense probably benign 0.32
R1086:Skor2 UTSW 18 76,946,994 (GRCm39) missense unknown
R1237:Skor2 UTSW 18 76,963,827 (GRCm39) nonsense probably null
R1465:Skor2 UTSW 18 76,964,340 (GRCm39) splice site probably benign
R1625:Skor2 UTSW 18 76,946,499 (GRCm39) missense unknown
R1682:Skor2 UTSW 18 76,947,211 (GRCm39) missense unknown
R1918:Skor2 UTSW 18 76,947,051 (GRCm39) missense unknown
R2878:Skor2 UTSW 18 76,948,419 (GRCm39) nonsense probably null
R3103:Skor2 UTSW 18 76,946,973 (GRCm39) nonsense probably null
R3611:Skor2 UTSW 18 76,946,533 (GRCm39) missense unknown
R3882:Skor2 UTSW 18 76,950,384 (GRCm39) missense probably damaging 0.97
R3891:Skor2 UTSW 18 76,946,350 (GRCm39) missense unknown
R4473:Skor2 UTSW 18 76,947,156 (GRCm39) missense unknown
R4720:Skor2 UTSW 18 76,948,878 (GRCm39) critical splice donor site probably null
R4828:Skor2 UTSW 18 76,948,113 (GRCm39) missense probably damaging 1.00
R4906:Skor2 UTSW 18 76,947,990 (GRCm39) missense possibly damaging 0.73
R5074:Skor2 UTSW 18 76,946,649 (GRCm39) nonsense probably null
R5486:Skor2 UTSW 18 76,946,395 (GRCm39) missense unknown
R5886:Skor2 UTSW 18 76,947,124 (GRCm39) missense unknown
R6017:Skor2 UTSW 18 76,946,622 (GRCm39) missense unknown
R6514:Skor2 UTSW 18 76,950,389 (GRCm39) missense probably damaging 1.00
R6565:Skor2 UTSW 18 76,947,607 (GRCm39) missense possibly damaging 0.70
R6909:Skor2 UTSW 18 76,948,252 (GRCm39) missense possibly damaging 0.68
R7169:Skor2 UTSW 18 76,948,681 (GRCm39) missense probably benign 0.04
R7171:Skor2 UTSW 18 76,948,681 (GRCm39) missense probably benign 0.04
R7188:Skor2 UTSW 18 76,947,504 (GRCm39) missense possibly damaging 0.53
R7219:Skor2 UTSW 18 76,948,096 (GRCm39) missense possibly damaging 0.96
R7548:Skor2 UTSW 18 76,948,600 (GRCm39) missense possibly damaging 0.82
R7722:Skor2 UTSW 18 76,950,339 (GRCm39) missense probably benign 0.09
R7923:Skor2 UTSW 18 76,946,416 (GRCm39) missense unknown
R8125:Skor2 UTSW 18 76,947,373 (GRCm39) missense unknown
R8255:Skor2 UTSW 18 76,946,664 (GRCm39) missense unknown
R8531:Skor2 UTSW 18 76,946,569 (GRCm39) missense unknown
R8548:Skor2 UTSW 18 76,946,581 (GRCm39) missense unknown
R8917:Skor2 UTSW 18 76,948,504 (GRCm39) missense probably damaging 1.00
R9423:Skor2 UTSW 18 76,948,300 (GRCm39) missense probably damaging 0.99
R9445:Skor2 UTSW 18 76,948,811 (GRCm39) missense possibly damaging 0.94
R9562:Skor2 UTSW 18 76,946,376 (GRCm39) missense unknown
R9563:Skor2 UTSW 18 76,946,376 (GRCm39) missense unknown
R9564:Skor2 UTSW 18 76,946,376 (GRCm39) missense unknown
R9565:Skor2 UTSW 18 76,946,376 (GRCm39) missense unknown
R9673:Skor2 UTSW 18 76,946,376 (GRCm39) missense unknown
RF015:Skor2 UTSW 18 76,948,483 (GRCm39) missense probably damaging 0.99
Z1176:Skor2 UTSW 18 76,948,856 (GRCm39) missense probably damaging 0.99
Z1176:Skor2 UTSW 18 76,948,365 (GRCm39) missense possibly damaging 0.93
Z1176:Skor2 UTSW 18 76,947,819 (GRCm39) missense probably benign 0.15
Z1177:Skor2 UTSW 18 76,963,788 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGGTGATCCTCTATGGCATTCC -3'
(R):5'- TAGCTACACTTGATGCACTTGG -3'

Sequencing Primer
(F):5'- CCATCGTGTCCTTGGTGATCG -3'
(R):5'- TAGCGCGCCGGGATGAAG -3'
Posted On 2017-01-03