Incidental Mutation 'R7548:Skor2'
ID 584352
Institutional Source Beutler Lab
Gene Symbol Skor2
Ensembl Gene ENSMUSG00000091519
Gene Name SKI family transcriptional corepressor 2
Synonyms Corl2, Fussel18, Gm7348
MMRRC Submission 045619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7548 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 76944100-76988037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76948600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 774 (S774F)
Ref Sequence ENSEMBL: ENSMUSP00000132338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166956]
AlphaFold A7M7C7
Predicted Effect possibly damaging
Transcript: ENSMUST00000166956
AA Change: S774F

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: S774F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,016,059 (GRCm39) S146N possibly damaging Het
Acr T C 15: 89,458,596 (GRCm39) S426P possibly damaging Het
Arl6ip1 A T 7: 117,725,733 (GRCm39) I59N probably damaging Het
Atp2b4 A T 1: 133,629,379 (GRCm39) *81K probably null Het
Atp8a1 T A 5: 67,973,071 (GRCm39) R26* probably null Het
Atp8b4 T A 2: 126,231,262 (GRCm39) Q453L probably benign Het
B4galt4 A G 16: 38,574,428 (GRCm39) E134G probably damaging Het
Bcl9 G A 3: 97,113,209 (GRCm39) T1082I probably damaging Het
Catsperg2 A G 7: 29,409,251 (GRCm39) F617L probably benign Het
Ccdc15 T C 9: 37,188,723 (GRCm39) N800S probably benign Het
Cd300ld T C 11: 114,878,248 (GRCm39) D88G probably benign Het
Ceacam2 A T 7: 25,229,958 (GRCm39) V216E probably benign Het
Cecr2 T A 6: 120,738,675 (GRCm39) M356K Het
Cenpm T C 15: 82,128,880 (GRCm39) M1V probably null Het
Ces2e A G 8: 105,658,538 (GRCm39) E401G probably benign Het
Cib3 C A 8: 72,961,041 (GRCm39) L65F probably damaging Het
Clip4 C G 17: 72,096,963 (GRCm39) T29R probably benign Het
Cnot7 A G 8: 40,953,874 (GRCm39) I131T probably damaging Het
Cntn5 A T 9: 9,673,415 (GRCm39) probably null Het
Col11a1 A C 3: 113,917,409 (GRCm39) H732P unknown Het
Coq4 A T 2: 29,685,420 (GRCm39) T145S possibly damaging Het
Cwf19l1 T C 19: 44,098,989 (GRCm39) D527G probably benign Het
Cyp3a25 T C 5: 145,923,735 (GRCm39) I303V probably damaging Het
Dab2 C T 15: 6,459,399 (GRCm39) T437I possibly damaging Het
Dlc1 A G 8: 37,051,809 (GRCm39) S190P probably benign Het
Dnah6 G A 6: 73,004,423 (GRCm39) L3847F probably damaging Het
Dnmbp T C 19: 43,877,838 (GRCm39) E411G probably benign Het
Dpp8 T C 9: 64,944,517 (GRCm39) Y95H probably damaging Het
Emb T A 13: 117,408,590 (GRCm39) D310E possibly damaging Het
Eml4 C A 17: 83,732,766 (GRCm39) Q140K probably benign Het
Epb41l3 T C 17: 69,517,271 (GRCm39) S100P probably damaging Het
Fat4 A T 3: 39,035,263 (GRCm39) T2972S probably benign Het
Fignl2 T C 15: 100,951,079 (GRCm39) E401G unknown Het
Fryl T A 5: 73,349,105 (GRCm39) D19V unknown Het
Gck C T 11: 5,852,040 (GRCm39) G16R Het
Gm3371 T C 14: 44,648,145 (GRCm39) M1V probably null Het
Hlcs T A 16: 93,933,876 (GRCm39) K661* probably null Het
Il17re C G 6: 113,443,348 (GRCm39) P363A probably damaging Het
Kif24 C T 4: 41,423,601 (GRCm39) E217K possibly damaging Het
Klhdc7b T C 15: 89,272,907 (GRCm39) I605T probably damaging Het
Krt31 T C 11: 99,940,346 (GRCm39) T170A probably damaging Het
Lgals3bp T C 11: 118,287,669 (GRCm39) D126G probably benign Het
Lig1 T A 7: 13,035,344 (GRCm39) F601Y possibly damaging Het
Lrp6 A G 6: 134,484,471 (GRCm39) I384T probably damaging Het
Mfap5 A T 6: 122,502,993 (GRCm39) T102S probably benign Het
Mfsd6 A G 1: 52,702,446 (GRCm39) F600S possibly damaging Het
Nlrp4a G A 7: 26,149,604 (GRCm39) E404K probably damaging Het
Nme3 T C 17: 25,115,522 (GRCm39) L12P probably damaging Het
Nxpe5 A T 5: 138,249,493 (GRCm39) T428S probably benign Het
Or1e26 G A 11: 73,479,802 (GRCm39) T254I possibly damaging Het
Or4c122 T C 2: 89,079,430 (GRCm39) T191A probably benign Het
Prr5 C A 15: 84,641,259 (GRCm39) P175Q possibly damaging Het
Psmc6 T C 14: 45,572,375 (GRCm39) Y110H probably benign Het
Pthlh T A 6: 147,158,653 (GRCm39) R102S possibly damaging Het
Ric8b G T 10: 84,783,736 (GRCm39) S198I probably damaging Het
Rrp7a C A 15: 83,001,871 (GRCm39) R212S possibly damaging Het
Rubcnl T C 14: 75,279,792 (GRCm39) Y392H probably benign Het
Sag G A 1: 87,772,638 (GRCm39) V369I probably benign Het
Sar1b A G 11: 51,680,094 (GRCm39) E140G probably benign Het
Sema3d T A 5: 12,627,783 (GRCm39) M658K unknown Het
Slc1a6 G T 10: 78,650,265 (GRCm39) R501L probably damaging Het
Spata31d1b A G 13: 59,864,468 (GRCm39) M539V probably benign Het
Spocd1 T C 4: 129,823,602 (GRCm39) L133P Het
Sptlc1 A T 13: 53,521,968 (GRCm39) N96K possibly damaging Het
Stox1 A T 10: 62,501,946 (GRCm39) S205T probably damaging Het
Tec T C 5: 72,917,693 (GRCm39) M509V probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Ttc34 T A 4: 154,940,816 (GRCm39) L499Q probably damaging Het
Uqcc1 A G 2: 155,751,309 (GRCm39) C120R probably damaging Het
Usp39 C T 6: 72,321,996 (GRCm39) S46N possibly damaging Het
Zbtb5 T C 4: 44,994,724 (GRCm39) E220G probably benign Het
Zfp287 A T 11: 62,604,701 (GRCm39) C735* probably null 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
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
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'- AGCTACCCCAGTGAGGACAG -3'
(R):5'- ACATCTTTGTACGAGGGCTCC -3'

Sequencing Primer
(F):5'- CCCAGTGAGGACAGCTCTGAAG -3'
(R):5'- TCCTCCTCCAGTGATGGATGG -3'
Posted On 2019-10-17