Incidental Mutation 'R9085:Cbx2'
ID 690550
Institutional Source Beutler Lab
Gene Symbol Cbx2
Ensembl Gene ENSMUSG00000025577
Gene Name chromobox 2
Synonyms M33
MMRRC Submission 068904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9085 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118913845-118922101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118919914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 493 (T493M)
Ref Sequence ENSEMBL: ENSMUSP00000026662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026662]
AlphaFold P30658
Predicted Effect possibly damaging
Transcript: ENSMUST00000026662
AA Change: T493M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: T493M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l G A 10: 42,194,637 (GRCm39) T385M probably damaging Het
Arhgap29 T A 3: 121,808,249 (GRCm39) D1142E probably benign Het
Ash1l C T 3: 88,889,294 (GRCm39) A391V probably benign Het
Ash1l T C 3: 88,891,529 (GRCm39) V1136A probably benign Het
Cacna1c G T 6: 118,615,466 (GRCm39) Y1308* probably null Het
Cacna1g A T 11: 94,334,046 (GRCm39) V865E probably benign Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dlec1 G T 9: 118,953,252 (GRCm39) C572F probably damaging Het
Dmtn A G 14: 70,853,534 (GRCm39) S92P probably damaging Het
Dnah10 T C 5: 124,839,237 (GRCm39) L1225P Het
Dnah2 G T 11: 69,320,224 (GRCm39) H3954Q possibly damaging Het
Dntt C T 19: 41,044,220 (GRCm39) R462C probably damaging Het
Emc1 T C 4: 139,094,474 (GRCm39) Y676H possibly damaging Het
Epb41l4b A T 4: 57,041,064 (GRCm39) probably null Het
Fer T A 17: 64,228,767 (GRCm39) M214K probably damaging Het
Fgf17 A G 14: 70,874,436 (GRCm39) F129L probably damaging Het
Foxn3 C T 12: 99,355,095 (GRCm39) S23N probably damaging Het
Frmd4b A C 6: 97,269,334 (GRCm39) S993A probably benign Het
Gdap1l1 T C 2: 163,280,508 (GRCm39) W15R probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
Gucy2g A T 19: 55,221,597 (GRCm39) Y301* probably null Het
Il31ra T C 13: 112,660,628 (GRCm39) S654G Het
Lmnb2 T C 10: 80,740,091 (GRCm39) D442G probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrrc37 A G 11: 103,507,565 (GRCm39) Y1468H unknown Het
Mast3 A T 8: 71,249,361 (GRCm39) W53R unknown Het
Mettl2 T C 11: 105,021,274 (GRCm39) V180A possibly damaging Het
Mospd3 C T 5: 137,598,870 (GRCm39) probably benign Het
Mrpl18 A T 17: 13,134,582 (GRCm39) V61E probably damaging Het
Mrtfb A C 16: 13,230,092 (GRCm39) T926P probably damaging Het
Muc2 T A 7: 141,287,058 (GRCm39) C154S probably damaging Het
Mypn T G 10: 62,983,894 (GRCm39) probably null Het
Nelfb C T 2: 25,094,292 (GRCm39) C357Y probably damaging Het
Nes T G 3: 87,887,069 (GRCm39) V1776G possibly damaging Het
Nin T A 12: 70,076,786 (GRCm39) R1797* probably null Het
Nxpe2 A T 9: 48,250,872 (GRCm39) I25K probably benign Het
Or4a39 A G 2: 89,236,641 (GRCm39) S261P probably damaging Het
Or5ak24 T A 2: 85,260,619 (GRCm39) T185S probably benign Het
Osbpl1a T C 18: 13,062,093 (GRCm39) H60R probably damaging Het
Papss1 C A 3: 131,324,817 (GRCm39) H425N probably damaging Het
Pde4dip T C 3: 97,601,385 (GRCm39) N2344S probably benign Het
Pde6c G A 19: 38,166,569 (GRCm39) V704I probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Pla2r1 A T 2: 60,255,791 (GRCm39) V1251D probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plec A G 15: 76,057,275 (GRCm39) S4221P probably damaging Het
Psg23 T G 7: 18,348,660 (GRCm39) N49T possibly damaging Het
Qrfpr A G 3: 36,276,099 (GRCm39) F97S probably damaging Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rbm43 A G 2: 51,824,930 (GRCm39) probably benign Het
Rpgrip1l T C 8: 92,014,303 (GRCm39) N314D possibly damaging Het
Rpn2 C T 2: 157,125,567 (GRCm39) T26I possibly damaging Het
Rsph6a A T 7: 18,799,250 (GRCm39) N294Y probably damaging Het
Serpinb9h T C 13: 33,581,781 (GRCm39) Y113H probably damaging Het
Sesn1 C T 10: 41,686,835 (GRCm39) probably benign Het
Sh3d19 T C 3: 86,033,992 (GRCm39) Y782H probably damaging Het
Sh3rf1 C A 8: 61,802,493 (GRCm39) D275E probably benign Het
Siglecg T C 7: 43,061,049 (GRCm39) V374A probably benign Het
Slc6a11 A T 6: 114,202,808 (GRCm39) I301F probably damaging Het
Spock1 A T 13: 57,570,956 (GRCm39) F348I unknown Het
Sptlc2 T C 12: 87,382,839 (GRCm39) K422E probably benign Het
Tas2r115 A T 6: 132,714,327 (GRCm39) V208E probably benign Het
Tmem132a G T 19: 10,843,835 (GRCm39) Q174K probably damaging Het
Tmtc1 A T 6: 148,237,749 (GRCm39) Y338* probably null Het
Tnfaip1 G T 11: 78,420,965 (GRCm39) L32I probably damaging Het
Tox2 T C 2: 163,067,481 (GRCm39) C67R probably benign Het
Ube2o C T 11: 116,436,209 (GRCm39) G311S probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vav3 C T 3: 109,413,722 (GRCm39) A220V probably benign Het
Xaf1 A G 11: 72,197,419 (GRCm39) K132E probably benign Het
Zeb1 T C 18: 5,766,716 (GRCm39) L409S probably damaging Het
Zfp51 T A 17: 21,684,660 (GRCm39) L425H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTAAAAGCGTCGCTGCCTCC -3'
(R):5'- ATTTCCCAGCCCTGAGTCTCAG -3'

Sequencing Primer
(F):5'- ACACAGCCCCGGGAGAAG -3'
(R):5'- TGAGTCTCAGGACAGGGC -3'
Posted On 2021-12-30