Mutagenetix > Incidental Mutation

Incidental Mutation 'R6042:Barx2'

483616

Institutional Source

Beutler Lab

Gene Symbol

Barx2

Ensembl Gene

ENSMUSG00000032033

Gene Name

BarH-like homeobox 2

Synonyms

2310006E12Rik, Barx2b

MMRRC Submission

044210-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R6042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31757340-31824581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31758199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 246 (E246D)

Ref Sequence

ENSEMBL: ENSMUSP00000112314 (fasta)

Gene Model

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

AlphaFold

O08686

Predicted Effect

probably benign
Transcript: ENSMUST00000116615
AA Change: E246D

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: E246D

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,224,023 (GRCm39)	K478M	probably benign	Het
Ankar	G	T	1: 72,713,213 (GRCm39)	S474*	probably null	Het
Cdh20	A	T	1: 110,065,997 (GRCm39)	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751 (GRCm39)	F380L	probably damaging	Het
Cntnap5b	G	A	1: 100,318,317 (GRCm39)	A655T	probably benign	Het
Col2a1	T	A	15: 97,898,451 (GRCm39)		probably benign	Het
Crybg3	C	T	16: 59,370,838 (GRCm39)	R2340Q	possibly damaging	Het
Ctsb	G	T	14: 63,379,305 (GRCm39)	D306Y	probably damaging	Het
Cyp2a22	A	C	7: 26,633,664 (GRCm39)	Y349D	probably damaging	Het
Dcpp2	T	C	17: 24,117,886 (GRCm39)	L22S	probably damaging	Het
Dnah8	G	T	17: 30,966,239 (GRCm39)	M2476I	probably damaging	Het
Dst	A	G	1: 34,228,053 (GRCm39)	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580 (GRCm39)	K511E	possibly damaging	Het
Fat3	T	A	9: 16,289,113 (GRCm39)	T137S	probably benign	Het
Fbxw24	T	A	9: 109,436,079 (GRCm39)	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,333,477 (GRCm39)	T338S	probably benign	Het
Gcgr	T	C	11: 120,425,584 (GRCm39)	M1T	probably null	Het
Grifin	C	A	5: 140,549,311 (GRCm39)	R135L	possibly damaging	Het
Helz	T	C	11: 107,504,946 (GRCm39)		probably null	Het
Hivep3	C	G	4: 119,955,061 (GRCm39)	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,815,999 (GRCm39)	H146L	probably damaging	Het
Lama3	T	A	18: 12,707,311 (GRCm39)	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,387,636 (GRCm39)	C531S	probably damaging	Het
Mical2	A	G	7: 111,979,619 (GRCm39)	D106G	probably benign	Het
Nectin2	C	T	7: 19,472,063 (GRCm39)	A109T	probably benign	Het
Olig3	T	C	10: 19,232,503 (GRCm39)	S43P	probably damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Or8b39	T	A	9: 37,996,390 (GRCm39)	V86E	probably damaging	Het
Pcdh12	T	C	18: 38,414,558 (GRCm39)	R856G	probably damaging	Het
Phpt1	T	A	2: 25,464,851 (GRCm39)	M1L	probably benign	Het
Polr2m	T	C	9: 71,391,080 (GRCm39)	I41V	probably damaging	Het
Pramel28	G	T	4: 143,692,631 (GRCm39)	D123E	probably benign	Het
Pzp	A	G	6: 128,500,977 (GRCm39)	V127A	possibly damaging	Het
Rgs7	G	T	1: 174,977,226 (GRCm39)	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,542,571 (GRCm39)		noncoding transcript	Het
Rras	A	T	7: 44,669,820 (GRCm39)	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,424,646 (GRCm39)	Y5*	probably null	Het
Slc43a2	T	C	11: 75,461,433 (GRCm39)	F462L	probably damaging	Het
Smchd1	T	A	17: 71,684,052 (GRCm39)	K1436*	probably null	Het
Snrnp27	A	C	6: 86,659,902 (GRCm39)	S31A	unknown	Het
Sqstm1	A	C	11: 50,098,251 (GRCm39)	F172V	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Syt10	G	A	15: 89,725,824 (GRCm39)	T50I	probably benign	Het
Syt16	T	C	12: 74,313,504 (GRCm39)	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,638,153 (GRCm39)	T437S	probably benign	Het
Tg	G	A	15: 66,555,842 (GRCm39)	D845N	probably benign	Het
Uqcc1	G	T	2: 155,763,564 (GRCm39)	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,409,391 (GRCm39)	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,933,103 (GRCm39)	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,250,016 (GRCm39)	K572E	probably damaging	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	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
R6036:Barx2	UTSW	9	31,824,304 (GRCm39)	missense	probably damaging	1.00
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'- GAGACCAGAAGTGCTCCTCTAC -3'
(R):5'- ACATTGCTGTGTAAGGGTGGAC -3'

Sequencing Primer
(F):5'- ACCCACGTTACTAGTCTTTAGAGG -3'
(R):5'- AAGATGAACAGCCAGGCT -3'

Posted On

2017-07-14