Incidental Mutation 'R6550:Cbx2'
ID 521527
Institutional Source Beutler Lab
Gene Symbol Cbx2
Ensembl Gene ENSMUSG00000025577
Gene Name chromobox 2
Synonyms M33
MMRRC Submission 044675-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6550 (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 C at 118919851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 472 (V472A)
Ref Sequence ENSEMBL: ENSMUSP00000026662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026662]
AlphaFold P30658
Predicted Effect possibly damaging
Transcript: ENSMUST00000026662
AA Change: V472A

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: V472A

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 0.0712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip A G 2: 22,748,245 (GRCm39) D355G probably damaging Het
Asz1 T C 6: 18,051,380 (GRCm39) D433G probably damaging Het
Atl3 A G 19: 7,499,503 (GRCm39) T256A probably benign Het
Atp8b4 T A 2: 126,266,113 (GRCm39) T183S probably damaging Het
Bahcc1 C T 11: 120,167,477 (GRCm39) H1293Y possibly damaging Het
Bin2 A G 15: 100,543,358 (GRCm39) V243A probably benign Het
Camta1 A C 4: 151,222,832 (GRCm39) F908L probably damaging Het
Cd22 T C 7: 30,576,977 (GRCm39) D110G probably benign Het
Cfap69 A T 5: 5,631,220 (GRCm39) D764E probably benign Het
Col2a1 A G 15: 97,874,674 (GRCm39) I1321T unknown Het
Cyp2c67 G T 19: 39,605,854 (GRCm39) Y347* probably null Het
D630044L22Rik A T 17: 26,180,628 (GRCm39) R66S possibly damaging Het
Defa27 A C 8: 21,806,340 (GRCm39) R46S possibly damaging Het
E330034G19Rik A G 14: 24,346,886 (GRCm39) M58V probably benign Het
Efhb G T 17: 53,728,968 (GRCm39) H574N probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin1 A T 19: 44,025,602 (GRCm39) probably null Het
Gm10912 C T 2: 103,896,996 (GRCm39) T45I possibly damaging Het
Hsh2d C A 8: 72,952,297 (GRCm39) T156K probably benign Het
Lrrc49 G T 9: 60,584,430 (GRCm39) Q139K probably benign Het
Map3k21 A G 8: 126,664,031 (GRCm39) S531G probably damaging Het
Mcm2 A G 6: 88,863,941 (GRCm39) probably null Het
Mtarc2 C A 1: 184,551,539 (GRCm39) R299L probably damaging Het
Myo9a T C 9: 59,775,482 (GRCm39) F1031S probably damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2n1d C T 17: 38,646,896 (GRCm39) P283S possibly damaging Het
Pmfbp1 T C 8: 110,246,839 (GRCm39) V237A possibly damaging Het
Polrmt C A 10: 79,575,514 (GRCm39) Q672H probably damaging Het
Pp2d1 T C 17: 53,822,604 (GRCm39) D154G probably damaging Het
Rars1 T C 11: 35,724,010 (GRCm39) I57V probably benign Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Slc8b1 A G 5: 120,662,082 (GRCm39) E257G probably damaging Het
Spata31e3 G A 13: 50,399,482 (GRCm39) P948L probably benign Het
Tasor2 A G 13: 3,640,519 (GRCm39) V206A possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem87b T A 2: 128,666,385 (GRCm39) H77Q possibly damaging Het
Tpr C T 1: 150,299,728 (GRCm39) L1200F probably damaging Het
Trir G T 8: 85,756,549 (GRCm39) V154L probably damaging Het
Wdfy3 A G 5: 102,101,032 (GRCm39) V195A probably benign Het
Zdhhc5 T C 2: 84,526,685 (GRCm39) I96V probably benign 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
R6446:Cbx2 UTSW 11 118,918,752 (GRCm39) missense probably benign 0.08
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'- GGACACCGTTAAAAGCGTCG -3'
(R):5'- ATTTCCCAGCCCTGAGTCTCAG -3'

Sequencing Primer
(F):5'- GTTAAAAGCGTCGCTGCCTC -3'
(R):5'- TGAGTCTCAGGACAGGGC -3'
Posted On 2018-06-06