Mutagenetix > Incidental Mutation

Incidental Mutation 'R1401:Barx2'

160138

Institutional Source

Beutler Lab

Gene Symbol

Barx2

Ensembl Gene

ENSMUSG00000032033

Gene Name

BarH-like homeobox 2

Synonyms

2310006E12Rik, Barx2b

MMRRC Submission

039463-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R1401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31757340-31824581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31770327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 67 (L67P)

Ref Sequence

ENSEMBL: ENSMUSP00000112314 (fasta)

Gene Model

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

AlphaFold

O08686

Predicted Effect

probably damaging
Transcript: ENSMUST00000116615
AA Change: L67P

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

SMART Domains

Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: L67P

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

Meta Mutation Damage Score

0.4790

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

98% (87/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abcg1	T	A	17: 31,333,132 (GRCm39)	I625N	possibly damaging	Het
Adam33	C	A	2: 130,893,391 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,528,617 (GRCm39)	I1185N	probably damaging	Het
Afp	A	T	5: 90,649,486 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,501,356 (GRCm39)	V342A	probably benign	Het
Ankrd11	A	T	8: 123,619,789 (GRCm39)	S1333R	probably benign	Het
Arhgef11	C	A	3: 87,640,776 (GRCm39)	S1311*	probably null	Het
Atp6v1g1	T	C	4: 63,466,878 (GRCm39)	Y47H	probably benign	Het
Atp8b4	T	C	2: 126,165,013 (GRCm39)		probably null	Het
Bbs7	G	A	3: 36,627,706 (GRCm39)	P694S	probably benign	Het
Btbd10	A	T	7: 112,946,266 (GRCm39)	V33E	probably benign	Het
C2	T	C	17: 35,091,457 (GRCm39)	T69A	possibly damaging	Het
C8b	T	G	4: 104,641,679 (GRCm39)	L205R	possibly damaging	Het
Cct4	T	G	11: 22,944,333 (GRCm39)	N72K	probably damaging	Het
Cd300lg	C	A	11: 101,944,981 (GRCm39)	P353H	possibly damaging	Het
Cdh20	A	T	1: 104,875,222 (GRCm39)	I335L	possibly damaging	Het
Cfhr2	T	A	1: 139,738,757 (GRCm39)	H268L	probably benign	Het
Chia1	T	A	3: 106,036,255 (GRCm39)	D278E	probably benign	Het
Cntn6	A	G	6: 104,781,359 (GRCm39)	T482A	possibly damaging	Het
Cst13	T	A	2: 148,665,016 (GRCm39)	F4I	probably benign	Het
Ctsc	T	A	7: 87,930,706 (GRCm39)	V95E	probably damaging	Het
Ddhd1	A	T	14: 45,842,508 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,322,712 (GRCm39)		probably null	Het
Dnah5	A	C	15: 28,402,059 (GRCm39)	T3407P	probably damaging	Het
Dock1	T	A	7: 134,735,665 (GRCm39)	Y1344*	probably null	Het
Eif4g3	T	C	4: 137,933,395 (GRCm39)	V1740A	probably damaging	Het
Epb41l5	A	G	1: 119,506,634 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fnbp1l	C	T	3: 122,339,955 (GRCm39)	R499Q	probably damaging	Het
Gm10033	T	C	8: 69,826,022 (GRCm39)		noncoding transcript	Het
Gm12790	A	G	4: 101,825,396 (GRCm39)	L6P	probably benign	Het
Gramd4	A	G	15: 86,009,397 (GRCm39)	D210G	probably damaging	Het
Hectd3	T	C	4: 116,859,466 (GRCm39)	S697P	possibly damaging	Het
Hsf4	T	C	8: 106,002,235 (GRCm39)	V399A	probably benign	Het
Hyal6	T	A	6: 24,743,434 (GRCm39)	C377S	probably damaging	Het
Myb	C	T	10: 21,028,844 (GRCm39)	V85M	probably damaging	Het
Mypn	A	G	10: 62,988,636 (GRCm39)	V463A	probably damaging	Het
Nav1	T	A	1: 135,388,163 (GRCm39)	I1144L	probably benign	Het
Nckap5	A	G	1: 125,942,398 (GRCm39)		probably benign	Het
Nipbl	A	T	15: 8,401,657 (GRCm39)	S30T	probably damaging	Het
Nmt1	T	C	11: 102,948,307 (GRCm39)	F277S	probably damaging	Het
Nploc4	A	C	11: 120,274,115 (GRCm39)		probably benign	Het
Nup54	C	A	5: 92,576,080 (GRCm39)	R137I	probably damaging	Het
Or52n2b	T	C	7: 104,565,963 (GRCm39)	Y180C	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pkd1l1	G	T	11: 8,804,487 (GRCm39)	Y1701*	probably null	Het
Plekhg6	T	C	6: 125,340,072 (GRCm39)	T763A	probably damaging	Het
Pmepa1	C	T	2: 173,070,368 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,666,518 (GRCm39)	E408G	possibly damaging	Het
Pramel13	G	A	4: 144,121,658 (GRCm39)	T122M	probably benign	Het
Prl8a2	G	A	13: 27,537,979 (GRCm39)	V218I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Shisal2b	A	T	13: 105,000,113 (GRCm39)	C37S	probably damaging	Het
Slc13a1	A	T	6: 24,118,082 (GRCm39)		probably null	Het
Slc17a8	T	A	10: 89,427,076 (GRCm39)	T342S	probably damaging	Het
Slc30a9	A	G	5: 67,510,005 (GRCm39)	E519G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc39a5	G	A	10: 128,233,610 (GRCm39)	L296F	probably damaging	Het
Slco6b1	A	C	1: 96,857,610 (GRCm39)		noncoding transcript	Het
Slco6d1	G	A	1: 98,418,341 (GRCm39)	G509D	probably damaging	Het
Spen	A	G	4: 141,199,132 (GRCm39)	V3142A	probably damaging	Het
Spta1	T	A	1: 174,050,250 (GRCm39)	H1763Q	probably damaging	Het
Srcap	T	C	7: 127,159,124 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,543,328 (GRCm39)		probably benign	Het
Stat4	A	G	1: 52,111,106 (GRCm39)		probably benign	Het
Svbp	T	A	4: 119,053,225 (GRCm39)		probably benign	Het
Tm2d1	A	T	4: 98,258,833 (GRCm39)		probably benign	Het
Trpv1	C	A	11: 73,130,952 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,794,232 (GRCm39)	D3713G	possibly damaging	Het
Ubr1	T	A	2: 120,786,125 (GRCm39)	D165V	probably benign	Het
Utrn	C	A	10: 12,524,897 (GRCm39)	M2195I	probably benign	Het
Vmn1r229	G	A	17: 21,034,904 (GRCm39)	V50I	possibly damaging	Het
Vmn1r44	A	T	6: 89,870,632 (GRCm39)	H126L	probably benign	Het
Vmn2r116	T	C	17: 23,605,570 (GRCm39)		probably benign	Het
Vmn2r27	A	C	6: 124,168,591 (GRCm39)	Y846*	probably null	Het
Vmn2r84	T	A	10: 130,227,859 (GRCm39)	S126C	possibly damaging	Het
Xylb	T	A	9: 119,197,133 (GRCm39)		probably benign	Het
Zfp282	A	T	6: 47,867,108 (GRCm39)	K232*	probably null	Het
Zfp39	C	A	11: 58,781,149 (GRCm39)	V538L	probably benign	Het
Zfp560	T	C	9: 20,263,149 (GRCm39)	N76D	possibly damaging	Het
Zmym4	C	T	4: 126,804,962 (GRCm39)	V433I	probably benign	Het
Zscan5b	A	G	7: 6,233,425 (GRCm39)	E83G	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
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
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'- TGAAGATGGTGCGACTTCTGCG -3'
(R):5'- GGTACAAATGGCCTCATGCCCAAG -3'

Sequencing Primer
(F):5'- GGCTGTTCTGTCTCTGACTCG -3'
(R):5'- AGGCTTAGTGTAGCCAGCTC -3'

Posted On

2014-03-14