Incidental Mutation 'R6446:Cbx2'
ID 519199
Institutional Source Beutler Lab
Gene Symbol Cbx2
Ensembl Gene ENSMUSG00000025577
Gene Name chromobox 2
Synonyms M33
MMRRC Submission 044583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6446 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118913845-118922101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118918752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 106 (S106T)
Ref Sequence ENSEMBL: ENSMUSP00000026662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026662]
AlphaFold P30658
Predicted Effect probably benign
Transcript: ENSMUST00000026662
AA Change: S106T

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: S106T

DomainStartEndE-ValueType
CHROMO 11 63 5.74e-17 SMART
AT_hook 74 86 2.05e-1 SMART
low complexity region 102 132 N/A INTRINSIC
low complexity region 197 210 N/A INTRINSIC
low complexity region 301 318 N/A INTRINSIC
low complexity region 452 465 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139746
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in results in male-to-female gonadal sex reversal. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations cause malformations of the axial skeletal, reduced viability, poor growth and male to female sex reversal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a3 A G 16: 30,180,687 (GRCm39) L114P probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,905,992 (GRCm39) I196V probably benign Het
Ccar2 T A 14: 70,380,518 (GRCm39) E354V probably benign Het
Ccr1 A G 9: 123,764,143 (GRCm39) I129T probably damaging Het
Cdkl2 T A 5: 92,181,076 (GRCm39) I188F probably damaging Het
Cep350 T C 1: 155,737,900 (GRCm39) N2648D probably benign Het
Chtf18 A G 17: 25,940,218 (GRCm39) S658P probably benign Het
Csnka2ip G A 16: 64,299,744 (GRCm39) Q207* probably null Het
Dennd5a A G 7: 109,493,873 (GRCm39) L1253P probably damaging Het
Dennd6a T A 14: 26,350,689 (GRCm39) I374K probably damaging Het
Dut T C 2: 125,092,939 (GRCm39) probably null Het
Gcm1 T C 9: 77,967,065 (GRCm39) Y95H probably benign Het
Grid2 A T 6: 64,322,577 (GRCm39) I526F probably damaging Het
Hectd4 T A 5: 121,472,438 (GRCm39) Y2725N possibly damaging Het
Helq A T 5: 100,916,250 (GRCm39) N907K possibly damaging Het
Hpse G A 5: 100,843,435 (GRCm39) Q246* probably null Het
Iigp1c A G 18: 60,378,840 (GRCm39) D125G probably damaging Het
Kcnj15 C T 16: 95,097,118 (GRCm39) H247Y probably benign Het
Kif27 C A 13: 58,493,530 (GRCm39) V138F probably damaging Het
Map7 T G 10: 20,153,979 (GRCm39) D698E unknown Het
Mtmr11 A T 3: 96,078,504 (GRCm39) S687C probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nup210l G A 3: 90,079,375 (GRCm39) G953E probably damaging Het
Or14c45 T A 7: 86,176,310 (GRCm39) I115N possibly damaging Het
Piezo2 G T 18: 63,219,678 (GRCm39) P792T probably damaging Het
Pld3 T C 7: 27,237,156 (GRCm39) D241G probably damaging Het
Prss35 G T 9: 86,637,706 (GRCm39) V159F probably damaging Het
Rimbp3 A T 16: 17,030,793 (GRCm39) M1406L probably benign Het
Serpina3g T C 12: 104,205,341 (GRCm39) F27L probably damaging Het
Setd1b G A 5: 123,299,862 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,411,366 (GRCm39) K13E probably damaging Het
Slc29a1 A T 17: 45,900,171 (GRCm39) I217N possibly damaging Het
Spag17 A T 3: 100,010,448 (GRCm39) T1981S probably benign Het
Svil A C 18: 5,057,323 (GRCm39) E590D probably benign Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Vmn2r108 A T 17: 20,692,609 (GRCm39) Y82* probably null Het
Other mutations in Cbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1005:Cbx2 UTSW 11 118,919,400 (GRCm39) missense probably benign
R1629:Cbx2 UTSW 11 118,919,806 (GRCm39) missense probably damaging 0.99
R1954:Cbx2 UTSW 11 118,919,166 (GRCm39) missense probably damaging 0.99
R1962:Cbx2 UTSW 11 118,919,395 (GRCm39) missense possibly damaging 0.76
R4674:Cbx2 UTSW 11 118,919,935 (GRCm39) missense probably damaging 1.00
R4675:Cbx2 UTSW 11 118,919,935 (GRCm39) missense probably damaging 1.00
R5558:Cbx2 UTSW 11 118,919,775 (GRCm39) missense probably benign 0.01
R6550:Cbx2 UTSW 11 118,919,851 (GRCm39) missense possibly damaging 0.63
R6610:Cbx2 UTSW 11 118,915,036 (GRCm39) missense probably damaging 1.00
R6622:Cbx2 UTSW 11 118,919,961 (GRCm39) missense probably damaging 0.99
R7095:Cbx2 UTSW 11 118,918,885 (GRCm39) missense probably damaging 1.00
R7132:Cbx2 UTSW 11 118,913,947 (GRCm39) missense probably benign 0.08
R7478:Cbx2 UTSW 11 118,919,941 (GRCm39) missense probably damaging 1.00
R8296:Cbx2 UTSW 11 118,918,954 (GRCm39) missense probably damaging 1.00
R8374:Cbx2 UTSW 11 118,918,969 (GRCm39) missense probably damaging 1.00
R8685:Cbx2 UTSW 11 118,918,746 (GRCm39) missense possibly damaging 0.56
R9085:Cbx2 UTSW 11 118,919,914 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCTTACCACTGAACGGGTTTC -3'
(R):5'- TGGTCTTTAGCACCTTGGCC -3'

Sequencing Primer
(F):5'- CGCCCTTCTCCACAAGCATG -3'
(R):5'- TAGAGGCTTGCGTCCCC -3'
Posted On 2018-05-24