Mutagenetix > Incidental Mutation

Incidental Mutation 'R7478:Cbx2'

579624

Institutional Source

Beutler Lab

Gene Symbol

Cbx2

Ensembl Gene

ENSMUSG00000025577

Gene Name

chromobox 2

Synonyms

M33

MMRRC Submission

045552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118913845-118922101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118919941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 502 (V502A)

Ref Sequence

ENSEMBL: ENSMUSP00000026662 (fasta)

Gene Model

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

AlphaFold

P30658

Predicted Effect

probably damaging
Transcript: ENSMUST00000026662
AA Change: V502A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026662
Gene: ENSMUSG00000025577
AA Change: V502A

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

Meta Mutation Damage Score

0.4787

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,266 (GRCm39)	R516G	probably damaging	Het
Ak9	T	C	10: 41,265,087 (GRCm39)	F948S		Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Ankrd34a	T	C	3: 96,505,816 (GRCm39)	L340P	possibly damaging	Het
Arid1a	T	A	4: 133,412,482 (GRCm39)	R1186W	unknown	Het
Arpc4	T	A	6: 113,361,092 (GRCm39)	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,684,744 (GRCm39)	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,606,624 (GRCm39)	N103D	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap2	T	C	1: 136,198,678 (GRCm39)	T782A		Het
Catsperd	A	G	17: 56,971,055 (GRCm39)	I706M	probably benign	Het
Cd72	T	G	4: 43,454,515 (GRCm39)	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,720,777 (GRCm39)	Y2609C	probably benign	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Efcc1	T	C	6: 87,707,972 (GRCm39)	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,177,709 (GRCm39)	L367*	probably null	Het
Eml2	T	A	7: 18,940,066 (GRCm39)	L627*	probably null	Het
F13b	A	G	1: 139,435,433 (GRCm39)	T193A	probably benign	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Ifna7	T	A	4: 88,734,913 (GRCm39)	I150N	probably damaging	Het
Man2b2	G	A	5: 36,967,657 (GRCm39)	H904Y	probably damaging	Het
Midn	A	G	10: 79,991,156 (GRCm39)	T389A	possibly damaging	Het
Myo19	A	T	11: 84,776,626 (GRCm39)	H94L	probably benign	Het
Naglu	T	C	11: 100,962,725 (GRCm39)	Y177H	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nxn	A	T	11: 76,152,378 (GRCm39)	V372E	probably damaging	Het
Obscn	G	A	11: 58,984,242 (GRCm39)	R1738C	probably damaging	Het
Pcm1	A	G	8: 41,714,410 (GRCm39)	E266G	probably benign	Het
Pkd1l1	T	C	11: 8,879,441 (GRCm39)	N920S		Het
Pkd1l3	C	A	8: 110,359,947 (GRCm39)	T944K	probably damaging	Het
Prl7d1	C	A	13: 27,894,168 (GRCm39)	E133*	probably null	Het
Qser1	G	A	2: 104,619,859 (GRCm39)	L228F	probably damaging	Het
Rasa3	A	G	8: 13,664,605 (GRCm39)	I69T	possibly damaging	Het
Rb1	A	T	14: 73,506,577 (GRCm39)	S391T	probably damaging	Het
Rnf220	T	C	4: 117,153,333 (GRCm39)	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,851,442 (GRCm39)	K580E	probably damaging	Het
Stard4	T	C	18: 33,338,377 (GRCm39)	Y111C	unknown	Het
Tagap	C	A	17: 8,152,422 (GRCm39)	Q536K	possibly damaging	Het
Tank	T	C	2: 61,480,513 (GRCm39)	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,430,169 (GRCm39)	M144L	probably benign	Het
Tdrd9	T	C	12: 111,951,476 (GRCm39)	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,934,873 (GRCm39)	T1373K	probably benign	Het
Tle1	G	A	4: 72,055,349 (GRCm39)	P434L	probably damaging	Het
Tmed5	A	G	5: 108,272,495 (GRCm39)	V201A	probably benign	Het
Ust	A	G	10: 8,266,650 (GRCm39)		probably null	Het
Vmn2r94	T	C	17: 18,477,767 (GRCm39)	T215A	probably benign	Het
Zfp273	A	T	13: 67,973,251 (GRCm39)	Q126H	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	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
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'- GGACACCGTTAAAAGCGTCG -3'
(R):5'- CGGCTTTCCTGAGATGACAG -3'

Sequencing Primer
(F):5'- GTTAAAAGCGTCGCTGCCTC -3'
(R):5'- CAGACTGAAGTGGAGGCCC -3'

Posted On

2019-10-07