Mutagenetix > Incidental Mutation

Incidental Mutation 'R8242:Barx2'

637613

Institutional Source

Beutler Lab

Gene Symbol

Barx2

Ensembl Gene

ENSMUSG00000032033

Gene Name

BarH-like homeobox 2

Synonyms

2310006E12Rik, Barx2b

MMRRC Submission

067647-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R8242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31757340-31824581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31824227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 54 (R54L)

Ref Sequence

ENSEMBL: ENSMUSP00000112314 (fasta)

Gene Model

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

AlphaFold

O08686

Predicted Effect

probably damaging
Transcript: ENSMUST00000116615
AA Change: R54L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: R54L

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,374,118 (GRCm39)	Y736H	possibly damaging	Het
Akr1c12	G	A	13: 4,322,269 (GRCm39)	R258*	probably null	Het
Ankfn1	C	G	11: 89,417,271 (GRCm39)		probably null	Het
Arfgef3	T	C	10: 18,505,824 (GRCm39)	K947E	probably benign	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl11a	T	A	11: 24,113,208 (GRCm39)	F184I	probably benign	Het
Cfap251	T	A	5: 123,411,914 (GRCm39)	D515E	possibly damaging	Het
Cfap43	A	G	19: 47,885,808 (GRCm39)	L269P	probably damaging	Het
Col8a1	G	T	16: 57,452,721 (GRCm39)	P94Q	possibly damaging	Het
Coq5	T	C	5: 115,417,806 (GRCm39)	V12A	probably benign	Het
Csmd1	A	G	8: 16,760,670 (GRCm39)	V155A	probably benign	Het
Defb22	A	C	2: 152,328,007 (GRCm39)	C59W	probably damaging	Het
Dsg3	A	G	18: 20,669,980 (GRCm39)	T665A	possibly damaging	Het
Gm10542	A	G	18: 44,337,708 (GRCm39)	D62G	possibly damaging	Het
Gm45861	G	A	8: 28,038,821 (GRCm39)	S987N	unknown	Het
Gm5591	T	A	7: 38,219,746 (GRCm39)	T376S	probably benign	Het
Hps3	C	T	3: 20,068,290 (GRCm39)	R588H	possibly damaging	Het
Itpr1	A	T	6: 108,363,658 (GRCm39)	D760V	probably benign	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mroh2b	A	T	15: 4,938,522 (GRCm39)	R270S	probably benign	Het
Mroh4	G	T	15: 74,488,157 (GRCm39)	H350N	possibly damaging	Het
Nsd3	G	T	8: 26,196,567 (GRCm39)	E1183*	probably null	Het
Or13a19	T	A	7: 139,902,696 (GRCm39)	L28*	probably null	Het
Or4p7	A	G	2: 88,222,418 (GRCm39)	I276V	possibly damaging	Het
Or51f23b	T	C	7: 102,402,306 (GRCm39)	M277V	probably benign	Het
Or8k53	A	T	2: 86,177,426 (GRCm39)	M228K	probably damaging	Het
Pex5l	T	A	3: 33,060,184 (GRCm39)	T196S	probably benign	Het
Phlpp2	T	C	8: 110,666,834 (GRCm39)	V1121A	probably benign	Het
Rab3gap2	T	A	1: 184,954,050 (GRCm39)	S41T	probably benign	Het
Rad51c	A	T	11: 87,280,712 (GRCm39)	N293K	probably damaging	Het
Rgs3	C	A	4: 62,538,022 (GRCm39)	Q18K	probably benign	Het
Ripk2	C	T	4: 16,124,430 (GRCm39)	G426D	probably benign	Het
Rpl22l1	T	C	3: 28,860,914 (GRCm39)	V44A	possibly damaging	Het
Sntb1	C	T	15: 55,655,629 (GRCm39)	A196T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tdrd6	T	C	17: 43,939,821 (GRCm39)	E409G	probably damaging	Het
Timm50	A	T	7: 28,007,836 (GRCm39)	D105E	probably benign	Het
Tsga10	A	T	1: 37,846,182 (GRCm39)	S315T	probably benign	Het
Ttpa	G	A	4: 20,028,511 (GRCm39)	C256Y	probably damaging	Het
Vinac1	G	T	2: 128,881,313 (GRCm39)	C204*	probably null	Het
Vmn2r13	T	C	5: 109,322,872 (GRCm39)	Y139C	possibly damaging	Het
Washc5	A	G	15: 59,215,971 (GRCm39)	S803P	probably damaging	Het
Zfp985	A	C	4: 147,668,639 (GRCm39)	K502N	possibly 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
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
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'- TTTGAATGCCCACCACTGGC -3'
(R):5'- AGTCAAAGATGCTGCTCGGC -3'

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

Posted On

2020-07-13