Mutagenetix > Incidental Mutation

Incidental Mutation 'R8374:Cbx2'

646587

Institutional Source

Beutler Lab

Gene Symbol

Cbx2

Ensembl Gene

ENSMUSG00000025577

Gene Name

chromobox 2

Synonyms

M33

MMRRC Submission

067742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118913845-118922101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118918969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 178 (R178L)

Ref Sequence

ENSEMBL: ENSMUSP00000026662 (fasta)

Gene Model

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

AlphaFold

P30658

Predicted Effect

probably damaging
Transcript: ENSMUST00000026662
AA Change: R178L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: R178L

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: 99.8%
20x: 99.5%

Validation Efficiency

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
Adamts15	C	T	9: 30,814,002 (GRCm39)	G721E	probably benign	Het
Aip	A	T	19: 4,165,456 (GRCm39)	M170K	probably damaging	Het
Alms1	T	C	6: 85,585,973 (GRCm39)	I276T	probably benign	Het
Arid1b	C	T	17: 5,392,919 (GRCm39)	P2097S	possibly damaging	Het
Astn1	T	G	1: 158,329,803 (GRCm39)	N219K	probably damaging	Het
Clptm1	G	A	7: 19,372,081 (GRCm39)	P252S	probably benign	Het
Crebbp	A	G	16: 3,902,175 (GRCm39)	S2355P	probably damaging	Het
D130043K22Rik	C	A	13: 25,041,962 (GRCm39)	T297K	probably benign	Het
Ddx60	A	G	8: 62,427,205 (GRCm39)	D760G	probably benign	Het
Dgka	T	C	10: 128,557,112 (GRCm39)	N621S	probably benign	Het
Ear10	A	T	14: 44,160,645 (GRCm39)	C61S	probably damaging	Het
F12	A	T	13: 55,569,144 (GRCm39)	C238S	probably damaging	Het
Fen1	A	G	19: 10,177,824 (GRCm39)	F207L	probably benign	Het
Fzr1	A	G	10: 81,203,368 (GRCm39)	L486P	probably damaging	Het
Gdnf	A	G	15: 7,864,176 (GRCm39)	R196G	probably benign	Het
Gldc	A	C	19: 30,114,594 (GRCm39)	F439V	probably damaging	Het
Gm3138	T	C	14: 4,251,688 (GRCm38)	M120T	probably damaging	Het
Gpi1	G	A	7: 33,920,082 (GRCm39)	A197V	probably benign	Het
Ighv1-4	T	A	12: 114,450,899 (GRCm39)	I70F	probably benign	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Kank1	A	T	19: 25,389,005 (GRCm39)	I893F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif13b	T	C	14: 65,025,884 (GRCm39)	S1414P	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mosmo	T	A	7: 120,329,715 (GRCm39)	M112K	probably benign	Het
Ntmt2	A	T	1: 163,530,617 (GRCm39)	M274K	probably damaging	Het
Or2d2b	A	G	7: 106,706,033 (GRCm39)	F12L	probably damaging	Het
Or2h1b	C	A	17: 37,462,636 (GRCm39)	V76F	probably damaging	Het
Or2w3b	T	A	11: 58,623,724 (GRCm39)	D89V	probably damaging	Het
Pak6	G	A	2: 118,524,477 (GRCm39)	V497I	probably benign	Het
Ppargc1b	G	A	18: 61,443,564 (GRCm39)	S549F	probably damaging	Het
Rassf8	T	A	6: 145,760,863 (GRCm39)	L63*	probably null	Het
Rptn	G	T	3: 93,303,602 (GRCm39)	G312*	probably null	Het
Rsph14	T	C	10: 74,797,481 (GRCm39)	I169V	probably benign	Het
Sltm	A	G	9: 70,469,227 (GRCm39)	D162G	probably null	Het
Tatdn1	C	T	15: 58,788,000 (GRCm39)		probably null	Het
Tbx4	A	C	11: 85,805,102 (GRCm39)	E397A	probably benign	Het
Tdrd12	T	C	7: 35,177,486 (GRCm39)	D956G	unknown	Het
Tnr	G	A	1: 159,685,953 (GRCm39)	V395I	probably benign	Het
Ugt1a2	A	T	1: 88,129,107 (GRCm39)	H250L	possibly damaging	Het
Vmn1r173	C	T	7: 23,401,920 (GRCm39)	H52Y	probably damaging	Het
Vps11	T	C	9: 44,267,706 (GRCm39)	D302G	probably benign	Het
Zfp398	T	C	6: 47,836,468 (GRCm39)		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
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'- TTTCAGGAACCAGATGCGC -3'
(R):5'- TCATCAGACTGGCCAGGTTC -3'

Sequencing Primer
(F):5'- TCCAAATCCAGCAGTTCGTC -3'
(R):5'- TCTCTGGGGTCGCCATAG -3'

Posted On

2020-09-02