Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Barx2'

486583

Institutional Source

Beutler Lab

Gene Symbol

Barx2

Ensembl Gene

ENSMUSG00000032033

Gene Name

BarH-like homeobox 2

Synonyms

2310006E12Rik, Barx2b

MMRRC Submission

043257-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31757340-31824581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31824304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 28 (D28E)

Ref Sequence

ENSEMBL: ENSMUSP00000112314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116615]

AlphaFold

O08686

Predicted Effect

probably damaging
Transcript: ENSMUST00000116615
AA Change: D28E

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

SMART Domains

Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: D28E

Domain	Start	End	E-Value	Type
low complexity region	103	113	N/A	INTRINSIC
HOX	137	199	3.2e-25	SMART
low complexity region	230	246	N/A	INTRINSIC
low complexity region	268	283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216981

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted gene deletion exhibit short whiskers at birth, defective juvenile hair follicle remodeling, and short adult hair. Fifty percent of homozygotes are born with open eyelids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,723,684 (GRCm39)		probably benign	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Alpk3	G	A	7: 80,743,005 (GRCm39)	V941M	probably benign	Het
Ano4	A	G	10: 88,818,127 (GRCm39)	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 43,919,194 (GRCm39)	Y464H	probably benign	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Col10a1	A	G	10: 34,271,278 (GRCm39)	T417A	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif4enif1	T	C	11: 3,189,420 (GRCm39)	S227P	probably damaging	Het
Erv3	G	A	2: 131,697,925 (GRCm39)	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,251,779 (GRCm39)	T591A	possibly damaging	Het
F5	A	T	1: 164,012,565 (GRCm39)	E493V	probably damaging	Het
Gm8444	G	T	15: 81,727,794 (GRCm39)		probably benign	Het
Gria4	T	A	9: 4,537,646 (GRCm39)	I221L	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
H2bc13	A	T	13: 21,900,148 (GRCm39)	S56T	probably damaging	Het
Hc	T	C	2: 34,929,696 (GRCm39)	T249A	probably benign	Het
Herc2	A	G	7: 55,717,801 (GRCm39)	T48A	probably benign	Het
Hp	A	G	8: 110,303,406 (GRCm39)		probably null	Het
Ifna15	T	G	4: 88,476,310 (GRCm39)	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,308,421 (GRCm39)	M262L	probably benign	Het
Krt87	A	C	15: 101,385,412 (GRCm39)	I320S	possibly damaging	Het
Megf10	A	G	18: 57,375,799 (GRCm39)	N242D	probably damaging	Het
Nup155	A	G	15: 8,157,895 (GRCm39)	T451A	probably benign	Het
Or2ag2b	A	T	7: 106,417,667 (GRCm39)	I126F	probably damaging	Het
Or4g7	T	C	2: 111,309,333 (GRCm39)	L68P	probably damaging	Het
Or4k35	C	T	2: 111,099,957 (GRCm39)	G252R	probably damaging	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Or8d23	A	G	9: 38,842,216 (GRCm39)	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,293,641 (GRCm39)	P403S	probably damaging	Het
Piezo2	G	A	18: 63,248,019 (GRCm39)	Q494*	probably null	Het
Pik3c2b	T	C	1: 133,018,451 (GRCm39)	F966S	possibly damaging	Het
Plag1	T	C	4: 3,904,618 (GRCm39)	E191G	possibly damaging	Het
Pou4f2	A	T	8: 79,162,103 (GRCm39)	S167T	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scd4	G	A	19: 44,333,231 (GRCm39)	D319N	probably damaging	Het
Senp2	A	T	16: 21,847,308 (GRCm39)	R279*	probably null	Het
Sh3rf3	G	A	10: 58,649,806 (GRCm39)	G137D	probably benign	Het
Simc1	C	T	13: 54,672,434 (GRCm39)	P261S	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc26a1	T	A	5: 108,821,436 (GRCm39)	D151V	probably damaging	Het
Snx29	A	G	16: 11,556,301 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,530,556 (GRCm39)	A2271V	probably benign	Het
Stat6	A	G	10: 127,491,313 (GRCm39)	N485D	possibly damaging	Het
Tpcn2	T	C	7: 144,822,606 (GRCm39)	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,361,114 (GRCm39)	I378V	possibly damaging	Het
Ttc29	A	G	8: 79,052,205 (GRCm39)	D362G	probably benign	Het
Ttll7	A	G	3: 146,645,917 (GRCm39)	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,172 (GRCm39)	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,367,830 (GRCm39)	Q87R	probably damaging	Het
Vmn2r-ps129	T	C	17: 23,214,146 (GRCm39)		noncoding transcript	Het
Wdfy4	G	T	14: 32,868,947 (GRCm39)	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,662,993 (GRCm39)	Y521H	probably damaging	Het

Other mutations in Barx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Barx2	APN	9	31,758,141 (GRCm39)	missense	unknown
IGL02045:Barx2	APN	9	31,770,094 (GRCm39)	missense	probably damaging	1.00
IGL03341:Barx2	APN	9	31,770,090 (GRCm39)	missense	probably damaging	1.00
R1401:Barx2	UTSW	9	31,770,327 (GRCm39)	missense	probably damaging	1.00
R1982:Barx2	UTSW	9	31,824,308 (GRCm39)	missense	probably damaging	1.00
R2436:Barx2	UTSW	9	31,824,383 (GRCm39)	missense	probably damaging	0.99
R4543:Barx2	UTSW	9	31,758,092 (GRCm39)	missense	unknown
R4804:Barx2	UTSW	9	31,758,108 (GRCm39)	missense	unknown
R5399:Barx2	UTSW	9	31,765,407 (GRCm39)	critical splice donor site	probably null
R5436:Barx2	UTSW	9	31,824,285 (GRCm39)	missense	probably damaging	1.00
R5700:Barx2	UTSW	9	31,770,061 (GRCm39)	missense	probably damaging	1.00
R6036:Barx2	UTSW	9	31,824,304 (GRCm39)	missense	probably damaging	1.00
R6042:Barx2	UTSW	9	31,758,199 (GRCm39)	missense	probably benign	0.35
R6533:Barx2	UTSW	9	31,824,275 (GRCm39)	missense	probably damaging	1.00
R6618:Barx2	UTSW	9	31,758,168 (GRCm39)	missense	probably benign	0.01
R8242:Barx2	UTSW	9	31,824,227 (GRCm39)	missense	probably damaging	1.00
R8307:Barx2	UTSW	9	31,770,307 (GRCm39)	missense	probably damaging	1.00
R8507:Barx2	UTSW	9	31,770,309 (GRCm39)	missense	probably damaging	1.00
R8722:Barx2	UTSW	9	31,824,280 (GRCm39)	missense	probably damaging	1.00
R9089:Barx2	UTSW	9	31,765,443 (GRCm39)	missense	probably damaging	1.00
R9470:Barx2	UTSW	9	31,770,044 (GRCm39)	nonsense	probably null
R9720:Barx2	UTSW	9	31,765,407 (GRCm39)	critical splice donor site	probably null
Z1088:Barx2	UTSW	9	31,758,162 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- TCTCAGGTTGGAAAGCAGAG -3'
(R):5'- TAGTCAAAGATGCTGCTCGG -3'

Sequencing Primer
(F):5'- CAGAGGCGACCGCACAC -3'
(R):5'- GTGTAGACGCAGCAGGC -3'

Posted On

2017-08-16