Mutagenetix > Incidental Mutation

Incidental Mutation 'R7132:Cbx2'

552765

Institutional Source

Beutler Lab

Gene Symbol

Cbx2

Ensembl Gene

ENSMUSG00000025577

Gene Name

chromobox 2

Synonyms

M33

MMRRC Submission

045217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7132 (G1)

Quality Score

128.008

Status

Not validated

Chromosome

Chromosomal Location

118913845-118922101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118913947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 5 (S5G)

Ref Sequence

ENSEMBL: ENSMUSP00000026662 (fasta)

Gene Model

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

AlphaFold

P30658

Predicted Effect

probably benign
Transcript: ENSMUST00000026662
AA Change: S5G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: S5G

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: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,825,744 (GRCm39)	A1471V		Het
Ankrd12	C	A	17: 66,290,242 (GRCm39)	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,199,478 (GRCm39)	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,619,412 (GRCm39)	Y277*	probably null	Het
App	T	C	16: 84,853,370 (GRCm39)	D236G	unknown	Het
Arid2	A	T	15: 96,247,894 (GRCm39)	K102I	possibly damaging	Het
Asl	A	G	5: 130,043,543 (GRCm39)	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc183	A	G	2: 25,506,542 (GRCm39)		probably null	Het
Cd72	T	C	4: 43,452,444 (GRCm39)	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,128,555 (GRCm39)	D702E	possibly damaging	Het
Cfap61	A	T	2: 145,951,870 (GRCm39)	N784I	probably damaging	Het
Cgrrf1	G	A	14: 47,091,321 (GRCm39)	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cobll1	T	G	2: 64,964,112 (GRCm39)	K170Q	probably damaging	Het
Copg2	A	T	6: 30,792,931 (GRCm39)	V468D	probably benign	Het
Cracr2b	C	T	7: 141,043,651 (GRCm39)	A84V	probably benign	Het
Cyp2f2	A	T	7: 26,831,993 (GRCm39)	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391 (GRCm39)	F75S	probably benign	Het
Eml3	G	T	19: 8,918,392 (GRCm39)	A829S	probably benign	Het
Entpd3	A	G	9: 120,390,086 (GRCm39)	T402A	probably benign	Het
Fer1l4	A	T	2: 155,887,546 (GRCm39)	V550E	probably damaging	Het
Fgb	G	A	3: 82,954,053 (GRCm39)	R62*	probably null	Het
Fubp1	T	A	3: 151,937,661 (GRCm39)		probably null	Het
Gdf3	A	C	6: 122,583,283 (GRCm39)	D361E	probably damaging	Het
Gm6685	A	T	11: 28,289,330 (GRCm39)	I162N	probably damaging	Het
Hmx2	A	G	7: 131,157,645 (GRCm39)	Y253C	probably damaging	Het
Ints2	G	T	11: 86,108,580 (GRCm39)	N922K	probably benign	Het
Ipo7	C	T	7: 109,653,254 (GRCm39)	L984F	probably benign	Het
Itgae	A	T	11: 73,002,184 (GRCm39)	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,076,597 (GRCm39)	V697A	unknown	Het
Kctd18	G	A	1: 58,006,737 (GRCm39)	R38*	probably null	Het
Kdm5b	A	G	1: 134,526,844 (GRCm39)	D322G	probably damaging	Het
Ldb3	A	G	14: 34,298,992 (GRCm39)	Y211H	probably benign	Het
Limch1	T	C	5: 67,111,028 (GRCm39)	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,721,613 (GRCm39)	L68*	probably null	Het
Lrwd1	A	G	5: 136,152,129 (GRCm39)	V616A	possibly damaging	Het
Nars1	A	G	18: 64,640,841 (GRCm39)		probably null	Het
Nradd	T	C	9: 110,451,329 (GRCm39)	D13G	probably benign	Het
Oacyl	A	T	18: 65,831,480 (GRCm39)	N39I	probably damaging	Het
Onecut2	A	T	18: 64,473,983 (GRCm39)	H178L	possibly damaging	Het
Or9i14	T	A	19: 13,792,786 (GRCm39)	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,820,430 (GRCm39)	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,942,102 (GRCm39)	I902F	possibly damaging	Het
Plod3	T	C	5: 137,023,971 (GRCm39)	L180S		Het
Prrc2c	A	T	1: 162,508,850 (GRCm39)	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,361,225 (GRCm39)	E58G	probably benign	Het
Rev1	G	T	1: 38,110,530 (GRCm39)	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,605,963 (GRCm39)	L696*	probably null	Het
Serpinb3c	A	G	1: 107,204,681 (GRCm39)	S22P	probably damaging	Het
St18	A	T	1: 6,929,351 (GRCm39)	H81L		Het
Stard9	A	T	2: 120,509,859 (GRCm39)	K266*	probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,612,351 (GRCm39)	T381I	probably benign	Het
Tecpr2	T	A	12: 110,881,806 (GRCm39)	V125D	probably damaging	Het
Tmc2	T	C	2: 130,074,329 (GRCm39)	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,787,224 (GRCm39)	V143I	probably benign	Het
Trap1	A	G	16: 3,873,693 (GRCm39)	Y288H	probably benign	Het
Trim39	T	C	17: 36,571,547 (GRCm39)	T404A	probably benign	Het
Ttn	T	A	2: 76,576,043 (GRCm39)	K24950I	probably damaging	Het
Ttn	G	T	2: 76,774,696 (GRCm39)	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757 (GRCm39)	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,778,536 (GRCm39)	I471N	probably damaging	Het
Wbp11	T	C	6: 136,798,540 (GRCm39)	T170A	probably benign	Het
Wnk4	A	G	11: 101,152,026 (GRCm39)	I177V	probably benign	Het
Zfp455	C	A	13: 67,347,230 (GRCm39)	P51T	probably damaging	Het
Zfp946	T	C	17: 22,673,644 (GRCm39)	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,460,589 (GRCm39)	Y514*	probably null	Het
Zzef1	T	C	11: 72,808,697 (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
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'- GGCCAAACAATAGCTTTCCG -3'
(R):5'- GCTCGTAAACAAAGGGCAGC -3'

Sequencing Primer
(F):5'- TCCCGACACAGTGCAGAGAG -3'
(R):5'- GCACCGGAGACTCACTTG -3'

Posted On

2019-05-15