Mutagenetix > Incidental Mutation

Incidental Mutation 'R8685:Cbx2'

662001

Institutional Source

Beutler Lab

Gene Symbol

Cbx2

Ensembl Gene

ENSMUSG00000025577

Gene Name

chromobox 2

Synonyms

M33

MMRRC Submission

068540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118913845-118922101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118918746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 104 (S104T)

Ref Sequence

ENSEMBL: ENSMUSP00000026662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026662]

AlphaFold

P30658

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026662
AA Change: S104T

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: S104T

Domain	Start	End	E-Value	Type
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: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,862,140 (GRCm39)	Y50C	probably damaging	Het
Adgrl3	G	T	5: 81,874,708 (GRCm39)	D1002Y	possibly damaging	Het
Aoc3	G	A	11: 101,223,042 (GRCm39)	R426H	probably benign	Het
Atf6b	A	G	17: 34,869,320 (GRCm39)	H179R	probably benign	Het
Bbs4	T	C	9: 59,247,138 (GRCm39)	T121A	probably benign	Het
Brca1	T	C	11: 101,380,672 (GRCm39)	Y1787C	probably benign	Het
Cdh10	T	A	15: 18,899,851 (GRCm39)	N59K	possibly damaging	Het
Clstn3	C	T	6: 124,433,867 (GRCm39)	R431H	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dcpp3	T	C	17: 24,138,096 (GRCm39)	S85P	probably benign	Het
Dip2c	A	G	13: 9,687,161 (GRCm39)	T1262A	probably benign	Het
Dlgap2	A	G	8: 14,881,628 (GRCm39)	E900G	possibly damaging	Het
Dtx4	C	T	19: 12,446,995 (GRCm39)	D566N	probably benign	Het
Elmo1	T	A	13: 20,474,594 (GRCm39)	N339K	possibly damaging	Het
Gm11596	C	A	11: 99,683,816 (GRCm39)	R101S	unknown	Het
Hk1	T	C	10: 62,132,453 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,205 (GRCm39)	S148T	unknown	Het
Hyls1	A	G	9: 35,472,724 (GRCm39)	Y231H	probably damaging	Het
Il17rb	T	A	14: 29,726,297 (GRCm39)	Y97F	probably benign	Het
Lamc1	G	T	1: 153,109,288 (GRCm39)	T1168K	probably benign	Het
Larp6	A	T	9: 60,631,495 (GRCm39)	D89V	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Myo18a	A	G	11: 77,745,520 (GRCm39)	T1953A	probably benign	Het
Myo5c	A	G	9: 75,192,229 (GRCm39)	D1127G	possibly damaging	Het
Myo7a	T	C	7: 97,746,334 (GRCm39)	D266G	probably benign	Het
Naa35	T	A	13: 59,734,036 (GRCm39)	M22K	probably benign	Het
Niban2	T	G	2: 32,809,101 (GRCm39)	L229R	probably benign	Het
Or1f19	A	T	16: 3,410,904 (GRCm39)	I215F	probably damaging	Het
Pcdha8	T	A	18: 37,127,003 (GRCm39)	V495E	probably damaging	Het
Per2	T	G	1: 91,378,402 (GRCm39)	D49A	possibly damaging	Het
Plau	G	A	14: 20,889,627 (GRCm39)		probably benign	Het
Plekhg6	T	A	6: 125,352,755 (GRCm39)	I131L	possibly damaging	Het
Pnma8b	T	A	7: 16,679,965 (GRCm39)	D316E	unknown	Het
Ppp4r3b	T	C	11: 29,159,436 (GRCm39)	Y597H	possibly damaging	Het
Psmd2	T	C	16: 20,474,161 (GRCm39)	V288A	probably benign	Het
Slc6a15	T	C	10: 103,245,556 (GRCm39)	V513A	possibly damaging	Het
Smarcd3	G	A	5: 24,800,988 (GRCm39)	R140W	probably damaging	Het
Srrm4	T	C	5: 116,585,380 (GRCm39)	R440G	unknown	Het
Tpsg1	A	T	17: 25,592,241 (GRCm39)	Y105F	possibly damaging	Het
Trbv26	C	A	6: 41,204,693 (GRCm39)	A38E	probably damaging	Het
Ush2a	T	A	1: 188,198,401 (GRCm39)	N1488K	probably damaging	Het
Vill	A	T	9: 118,895,795 (GRCm39)	R502S	probably benign	Het
Zbed6	A	T	1: 133,584,754 (GRCm39)	L861*	probably null	Het

Other mutations in Cbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R9085:Cbx2	UTSW	11	118,919,914 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TACCACTGAACGGGTTTCG -3'
(R):5'- TGGTCTTTAGCACCTTGGC -3'

Sequencing Primer
(F):5'- GCCCTTCTCCACAAGCATGG -3'
(R):5'- GTTTCTTTCTAATGGGATCCTTCAG -3'

Posted On

2021-03-08