Incidental Mutation 'R4720:Skor2'
ID 397222
Institutional Source Beutler Lab
Gene Symbol Skor2
Ensembl Gene ENSMUSG00000091519
Gene Name SKI family transcriptional corepressor 2
Synonyms Corl2, Fussel18, Gm7348
MMRRC Submission 041958-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 76944100-76988037 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 76948878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166956]
AlphaFold A7M7C7
Predicted Effect probably null
Transcript: ENSMUST00000166956
SMART Domains Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,018,248 (GRCm39) I1124T probably damaging Het
Acacb A G 5: 114,367,975 (GRCm39) T1658A possibly damaging Het
Acvrl1 C A 15: 101,033,654 (GRCm39) P112Q probably damaging Het
Ankar A T 1: 72,738,170 (GRCm39) I4K possibly damaging Het
Ankfn1 G C 11: 89,332,252 (GRCm39) D431E possibly damaging Het
Apobec4 T C 1: 152,632,425 (GRCm39) V151A possibly damaging Het
Atp10b A G 11: 43,093,949 (GRCm39) S498G probably benign Het
Azin1 A G 15: 38,493,744 (GRCm39) V293A probably benign Het
Ccdc88b T C 19: 6,835,083 (GRCm39) E46G probably damaging Het
Ccdc96 T C 5: 36,642,219 (GRCm39) probably benign Het
Ccnyl1 A G 1: 64,752,290 (GRCm39) D169G probably benign Het
Cdca3 T A 6: 124,809,127 (GRCm39) V89E probably damaging Het
Cdh19 A T 1: 110,823,111 (GRCm39) probably null Het
Chka G A 19: 3,936,375 (GRCm39) V238I probably damaging Het
Cntn3 T C 6: 102,218,983 (GRCm39) K546E possibly damaging Het
Crybg3 A G 16: 59,360,180 (GRCm39) V787A probably damaging Het
Dlgap3 T C 4: 127,089,508 (GRCm39) probably null Het
Dnah8 C T 17: 30,902,608 (GRCm39) L889F probably benign Het
Dnah9 T C 11: 65,967,184 (GRCm39) E1658G probably damaging Het
Dnajc11 A G 4: 152,052,996 (GRCm39) D102G probably damaging Het
Dync1i2 T G 2: 71,064,018 (GRCm39) S121A probably damaging Het
Ece1 G A 4: 137,684,486 (GRCm39) E591K probably damaging Het
Enthd1 G A 15: 80,444,510 (GRCm39) S15L probably damaging Het
Epb41l2 T A 10: 25,347,524 (GRCm39) H372Q probably damaging Het
Errfi1 T A 4: 150,951,204 (GRCm39) Y211N probably damaging Het
Fam193b G A 13: 55,691,250 (GRCm39) T208M probably benign Het
Flacc1 T C 1: 58,717,507 (GRCm39) I135V possibly damaging Het
Fmnl2 C T 2: 52,997,552 (GRCm39) T501M possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm4841 G T 18: 60,403,135 (GRCm39) D319E probably benign Het
Gucd1 A G 10: 75,345,494 (GRCm39) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 124,002,752 (GRCm39) probably null Het
Helz2 T C 2: 180,880,210 (GRCm39) D502G probably damaging Het
Hspa2 A G 12: 76,451,639 (GRCm39) E111G possibly damaging Het
Htr2a T A 14: 74,882,499 (GRCm39) S162T probably damaging Het
Ift80 A G 3: 68,869,623 (GRCm39) Y223H possibly damaging Het
Il1rl1 A G 1: 40,485,838 (GRCm39) K330E probably benign Het
Il23r A T 6: 67,400,645 (GRCm39) F562I probably damaging Het
Isx T C 8: 75,600,487 (GRCm39) probably null Het
Jcad G A 18: 4,674,055 (GRCm39) V606I probably benign Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Kcnq5 C T 1: 21,473,274 (GRCm39) A630T probably damaging Het
Kif2c T C 4: 117,028,946 (GRCm39) M188V probably benign Het
Kntc1 T C 5: 123,903,086 (GRCm39) V321A possibly damaging Het
Krtap4-8 A T 11: 99,671,271 (GRCm39) probably benign Het
Lcor G C 19: 41,574,334 (GRCm39) A1030P probably benign Het
Lgals3bp A C 11: 118,289,295 (GRCm39) L52R probably damaging Het
Lipk C A 19: 33,999,099 (GRCm39) H126Q probably damaging Het
Lpgat1 T C 1: 191,495,779 (GRCm39) Y323H probably damaging Het
Lrp2 T G 2: 69,311,517 (GRCm39) N2654H probably damaging Het
Lsm14b C T 2: 179,669,774 (GRCm39) Q6* probably null Het
Lysmd3 C T 13: 81,817,584 (GRCm39) A187V possibly damaging Het
Map2k5 A G 9: 63,201,001 (GRCm39) S211P probably damaging Het
Mlph A T 1: 90,869,419 (GRCm39) I474F probably damaging Het
Mpped2 T C 2: 106,614,091 (GRCm39) S142P probably damaging Het
Nemf A C 12: 69,371,062 (GRCm39) M678R probably benign Het
Nfe2l1 A T 11: 96,718,515 (GRCm39) Y7N probably damaging Het
Nfkbie T G 17: 45,867,232 (GRCm39) D122E probably benign Het
Noc3l C A 19: 38,778,066 (GRCm39) A783S probably benign Het
Nol8 T C 13: 49,816,229 (GRCm39) V761A probably damaging Het
Nvl A G 1: 180,929,152 (GRCm39) L743P probably damaging Het
Or1j1 T A 2: 36,702,484 (GRCm39) I207F probably benign Het
Plcb1 A G 2: 135,093,667 (GRCm39) K160R possibly damaging Het
Plekhg3 G T 12: 76,625,096 (GRCm39) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Popdc3 G A 10: 45,191,002 (GRCm39) V38I probably benign Het
Prdx3 A T 19: 60,858,551 (GRCm39) V114D possibly damaging Het
Prkdc T A 16: 15,485,579 (GRCm39) S469T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Rims1 A G 1: 22,497,731 (GRCm39) Y808H probably damaging Het
Rsbn1 C A 3: 103,836,336 (GRCm39) T458N possibly damaging Het
Serpina3b A G 12: 104,096,889 (GRCm39) S57G possibly damaging Het
Slc22a4 A T 11: 53,879,719 (GRCm39) Y447N probably damaging Het
Slco1a7 C A 6: 141,668,948 (GRCm39) A495S probably damaging Het
Stx19 G T 16: 62,642,682 (GRCm39) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm39) T170A possibly damaging Het
Sycp2 T G 2: 178,016,225 (GRCm39) S746R probably benign Het
Tchh G T 3: 93,355,189 (GRCm39) R1543L unknown Het
Tjp2 T C 19: 24,078,169 (GRCm39) D908G probably damaging Het
Ttc8 C A 12: 98,946,068 (GRCm39) A452E possibly damaging Het
Unc5a T A 13: 55,151,696 (GRCm39) W709R probably null Het
Unc80 T A 1: 66,549,951 (GRCm39) S736R possibly damaging Het
Vmn2r100 C A 17: 19,742,788 (GRCm39) H387Q probably benign Het
Vmn2r39 C T 7: 9,026,469 (GRCm39) probably null Het
Vmn2r88 T A 14: 51,650,702 (GRCm39) D138E probably benign Het
Vwce T C 19: 10,625,831 (GRCm39) F448L possibly damaging Het
Wdr75 C T 1: 45,861,645 (GRCm39) S695F probably benign Het
Zfand4 T C 6: 116,265,122 (GRCm39) probably null Het
Zfp511 T A 7: 139,617,424 (GRCm39) probably null Het
Zfyve9 T C 4: 108,501,565 (GRCm39) K584E possibly 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
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'- CAGGCTGCTACAAGAGGATG -3'
(R):5'- TGGTGTCTGTTTCAACTTCTACAG -3'

Sequencing Primer
(F):5'- TGGGAAACTGGGGGACTCTG -3'
(R):5'- CTCAGAAGGCTTTAGGACCG -3'
Posted On 2016-06-28