Incidental Mutation 'R6610:Cbx2'
ID 525918
Institutional Source Beutler Lab
Gene Symbol Cbx2
Ensembl Gene ENSMUSG00000025577
Gene Name chromobox 2
Synonyms M33
MMRRC Submission 044733-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6610 (G1)
Quality Score 211.009
Status Validated
Chromosome 11
Chromosomal Location 118913845-118922101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118915036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 51 (D51G)
Ref Sequence ENSEMBL: ENSMUSP00000026662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026662]
AlphaFold P30658
Predicted Effect probably damaging
Transcript: ENSMUST00000026662
AA Change: D51G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: D51G

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 0.9584 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (42/42)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A T 9: 21,437,561 (GRCm39) M1L probably benign Het
Adam26b T C 8: 43,974,190 (GRCm39) K271E probably damaging Het
Ankrd44 A G 1: 54,694,246 (GRCm39) I914T probably benign Het
Atp12a A G 14: 56,612,013 (GRCm39) R396G probably damaging Het
C2cd3 A G 7: 100,104,505 (GRCm39) K2173E probably benign Het
Ccdc33 T A 9: 57,976,419 (GRCm39) T532S possibly damaging Het
Ccnt1 T C 15: 98,462,982 (GRCm39) I63M probably damaging Het
Cdc20b C T 13: 113,200,796 (GRCm39) T172I probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Ces2f T G 8: 105,676,738 (GRCm39) probably null Het
Cfh A T 1: 140,029,486 (GRCm39) C597* probably null Het
Cntnap2 A T 6: 45,992,191 (GRCm39) T373S probably benign Het
Cyb5r4 T G 9: 86,941,470 (GRCm39) C64G probably benign Het
Cyp2c23 A G 19: 43,995,520 (GRCm39) F416L probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Eif4e1b A G 13: 54,932,128 (GRCm39) probably benign Het
Elp1 A G 4: 56,758,236 (GRCm39) V1227A probably benign Het
Etl4 G A 2: 20,718,180 (GRCm39) R256K probably damaging Het
Fhad1 A G 4: 141,643,707 (GRCm39) L1054P possibly damaging Het
Grik1 A G 16: 87,831,200 (GRCm39) I190T probably damaging Het
Gsdmc2 T C 15: 63,696,857 (GRCm39) N438S probably benign Het
Igkv15-103 A T 6: 68,414,617 (GRCm39) R19* probably null Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lhcgr A T 17: 89,077,307 (GRCm39) I93K possibly damaging Het
Muc6 G C 7: 141,226,700 (GRCm39) probably benign Het
Mymk G T 2: 26,957,405 (GRCm39) S29R possibly damaging Het
Nab2 A T 10: 127,500,207 (GRCm39) I295N probably damaging Het
Neu2 A T 1: 87,524,407 (GRCm39) T131S probably benign Het
Pdcd7 T A 9: 65,261,965 (GRCm39) M129K possibly damaging Het
Ptar1 A G 19: 23,695,208 (GRCm39) H225R probably benign Het
Pygb T A 2: 150,665,886 (GRCm39) probably null Het
Rpap3 T C 15: 97,586,049 (GRCm39) D314G probably benign Het
Scara3 A G 14: 66,168,670 (GRCm39) S316P probably damaging Het
Sec24a C T 11: 51,587,483 (GRCm39) V1051I probably benign Het
Setdb1 G T 3: 95,235,888 (GRCm39) A841D probably damaging Het
Stk32b G A 5: 37,606,022 (GRCm39) T407I probably benign Het
Tcte2 G A 17: 13,948,250 (GRCm39) Q10* probably null Het
Tgm2 C A 2: 157,985,020 (GRCm39) E29* probably null Het
Trim32 G A 4: 65,533,308 (GRCm39) V622M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Vmn1r123 A G 7: 20,896,515 (GRCm39) N136D probably benign Het
Vmn2r31 A T 7: 7,387,588 (GRCm39) V661E probably damaging Het
Vmn2r85 A T 10: 130,261,838 (GRCm39) F166L probably damaging Het
Zfp426 T C 9: 20,384,389 (GRCm39) K98R probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K 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
R6550:Cbx2 UTSW 11 118,919,851 (GRCm39) missense possibly damaging 0.63
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'- TTGAGGCTGGGATGCTAACTAAC -3'
(R):5'- TCAAGTGCTATTAGTGCCGACC -3'

Sequencing Primer
(F):5'- GCTGGGATGCTAACTAACTTTAAGG -3'
(R):5'- GTGCTATTAGTGCCGACCAAAAGC -3'
Posted On 2018-06-22