Incidental Mutation 'R1237:Skor2'
ID 152484
Institutional Source Beutler Lab
Gene Symbol Skor2
Ensembl Gene ENSMUSG00000091519
Gene Name SKI family transcriptional corepressor 2
Synonyms Corl2, Fussel18, Gm7348
MMRRC Submission 039304-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1237 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 76944100-76988037 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 76963827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 924 (K924*)
Ref Sequence ENSEMBL: ENSMUSP00000132338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166956]
AlphaFold A7M7C7
Predicted Effect probably null
Transcript: ENSMUST00000166956
AA Change: K924*
SMART Domains Protein: ENSMUSP00000132338
Gene: ENSMUSG00000091519
AA Change: K924*

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 0.9717 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,096,223 (GRCm39) T500A probably damaging Het
Amz1 A T 5: 140,727,039 (GRCm39) M1L probably damaging Het
Angptl1 T A 1: 156,686,154 (GRCm39) N413K probably damaging Het
Ankrd13b T C 11: 77,365,400 (GRCm39) T70A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc174 C T 6: 91,867,768 (GRCm39) probably benign Het
Ccnc T A 4: 21,730,457 (GRCm39) F31L probably benign Het
Celsr1 A C 15: 85,788,175 (GRCm39) S2692R probably benign Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Ddhd1 A T 14: 45,839,107 (GRCm39) D65E probably benign Het
Dync1h1 A G 12: 110,632,393 (GRCm39) N4504S probably benign Het
Enthd1 A G 15: 80,418,799 (GRCm39) S167P probably damaging Het
Fat1 A T 8: 45,497,316 (GRCm39) Y4267F probably damaging Het
Hectd4 C T 5: 121,459,570 (GRCm39) A813V possibly damaging Het
Ibtk T C 9: 85,602,801 (GRCm39) S735G probably benign Het
Itga4 A G 2: 79,109,490 (GRCm39) I230V probably null Het
Kcnh8 A T 17: 53,200,988 (GRCm39) Q474L probably damaging Het
Kcnh8 G T 17: 53,200,989 (GRCm39) Q474H probably damaging Het
Mib1 C T 18: 10,768,149 (GRCm39) T466I probably damaging Het
Or12d12 T A 17: 37,611,156 (GRCm39) R52S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or2l5 A C 16: 19,334,375 (GRCm39) Y4D probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Prdx6b A G 2: 80,123,520 (GRCm39) I110V probably benign Het
Prf1 A C 10: 61,139,428 (GRCm39) D462A probably benign Het
Rps6ka5 T C 12: 100,541,964 (GRCm39) D391G possibly damaging Het
Scn7a A T 2: 66,510,639 (GRCm39) N1254K probably damaging Het
Slc22a21 A G 11: 53,870,598 (GRCm39) I29T probably benign Het
Tas2r140 T C 6: 133,032,171 (GRCm39) T196A probably benign Het
Thrap3 A G 4: 126,073,862 (GRCm39) S295P probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Unc93b1 A G 19: 3,985,228 (GRCm39) E12G possibly damaging Het
Vgll3 T A 16: 65,636,459 (GRCm39) Y203* probably null Het
Vmn1r212 G A 13: 23,067,638 (GRCm39) Q232* probably null Het
Vmn2r107 T A 17: 20,576,947 (GRCm39) L315* probably null Het
Vmn2r84 T A 10: 130,223,725 (GRCm39) probably null Het
Washc5 A G 15: 59,210,757 (GRCm39) probably benign 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
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'- TCGAAGAAGTCGTACCTACCCATCC -3'
(R):5'- TCCTTACTGAAGACTGGGAAGGACG -3'

Sequencing Primer
(F):5'- AGGACATCACCGAGTCCTG -3'
(R):5'- AACCTTCTGAAGTTCCTCTAATGGG -3'
Posted On 2014-01-29