Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Cbx2'

172687

Institutional Source

Beutler Lab

Gene Symbol

Cbx2

Ensembl Gene

ENSMUSG00000025577

Gene Name

chromobox 2

Synonyms

M33

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118913845-118922101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118919806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 457 (D457G)

Ref Sequence

ENSEMBL: ENSMUSP00000026662 (fasta)

Gene Model

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

AlphaFold

P30658

Predicted Effect

probably damaging
Transcript: ENSMUST00000026662
AA Change: D457G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: D457G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139746

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	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
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
R9085:Cbx2	UTSW	11	118,919,914 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCCAAGGCTATTCCTGCTACCAAC -3'
(R):5'- GACTCCTTCACGGTGACAGTGATG -3'

Sequencing Primer
(F):5'- CCAGCCACAGGGAAAGGTC -3'
(R):5'- ATGAGGTTGGCTGTGACATCC -3'

Posted On

2014-04-24