Incidental Mutation 'R0265:Skor2'
ID 155854
Institutional Source Beutler Lab
Gene Symbol Skor2
Ensembl Gene ENSMUSG00000091519
Gene Name SKI family transcriptional corepressor 2
Synonyms Corl2, Fussel18, Gm7348
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0265 (G1)
Quality Score 72
Status Validated
Chromosome 18
Chromosomal Location 76944100-76988037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76964293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 952 (E952D)
Ref Sequence ENSEMBL: ENSMUSP00000132338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166956]
AlphaFold A7M7C7
Predicted Effect probably damaging
Transcript: ENSMUST00000166956
AA Change: E952D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: E952D

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 0.1053 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp11a A T 8: 12,906,930 (GRCm39) probably benign Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cdhr1 A T 14: 36,803,333 (GRCm39) V581D probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hif3a T C 7: 16,769,793 (GRCm39) *665W probably null Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itga1 A T 13: 115,128,995 (GRCm39) D554E probably benign Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Upf2 G A 2: 6,032,015 (GRCm39) probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L 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
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
R5729:Skor2 UTSW 18 76,946,578 (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'- AGAAACCAATTCACCTCATTCGCTCA -3'
(R):5'- TGCACATACACTGGCTGCTACTCATA -3'

Sequencing Primer
(F):5'- CCTCATTCGCTCAAAAAGGATGTAG -3'
(R):5'- AGCACAGATAAGAGATTATTAACGTG -3'
Posted On 2014-02-10