Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Barx2'

690831

Institutional Source

Beutler Lab

Gene Symbol

Barx2

Ensembl Gene

ENSMUSG00000032033

Gene Name

BarH-like homeobox 2

Synonyms

2310006E12Rik, Barx2b

MMRRC Submission

068907-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R9089 (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 31765443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 184 (W184L)

Ref Sequence

ENSEMBL: ENSMUSP00000112314 (fasta)

Gene Model

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

AlphaFold

O08686

Predicted Effect

probably damaging
Transcript: ENSMUST00000116615
AA Change: W184L

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

SMART Domains

Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: W184L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,951 (GRCm39)	R118*	probably null	Het
Acadsb	T	C	7: 131,027,504 (GRCm39)	V68A	probably damaging	Het
Adgb	T	C	10: 10,318,432 (GRCm39)	R137G	probably benign	Het
Adgrl3	C	A	5: 81,808,291 (GRCm39)	N622K	possibly damaging	Het
Ager	C	A	17: 34,819,579 (GRCm39)	P366T	probably benign	Het
Bckdha	A	C	7: 25,341,144 (GRCm39)	N72K	probably benign	Het
Blm	A	T	7: 80,162,867 (GRCm39)	D161E	probably damaging	Het
Ccdc121rt2	A	T	5: 112,598,757 (GRCm39)	R435W	probably damaging	Het
Cd96	G	T	16: 45,870,068 (GRCm39)	T467N	probably benign	Het
Cdk13	A	T	13: 17,978,444 (GRCm39)	S265T	unknown	Het
Col6a5	A	C	9: 105,766,142 (GRCm39)	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,097,983 (GRCm39)	V361D	probably damaging	Het
Cstf1	T	A	2: 172,217,807 (GRCm39)	M140K		Het
Ddx41	A	T	13: 55,683,424 (GRCm39)	S128T	probably benign	Het
Deaf1	A	T	7: 140,877,465 (GRCm39)	V554D	probably damaging	Het
Dido1	C	T	2: 180,303,293 (GRCm39)	S1537N	probably benign	Het
Dmwd	T	C	7: 18,811,980 (GRCm39)	S145P	probably damaging	Het
Eftud2	A	G	11: 102,759,971 (GRCm39)	S125P	probably benign	Het
Gga1	A	G	15: 78,773,952 (GRCm39)	D325G	probably damaging	Het
Gm43518	T	C	5: 124,072,329 (GRCm39)		probably null	Het
Got1l1	A	T	8: 27,690,889 (GRCm39)	V53E	probably damaging	Het
Helz2	A	T	2: 180,881,433 (GRCm39)	C350S	probably damaging	Het
Ipo7	T	A	7: 109,643,666 (GRCm39)	F398I	possibly damaging	Het
Itga11	A	G	9: 62,678,662 (GRCm39)	N943S	probably damaging	Het
Itpa	T	A	2: 130,509,857 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kbtbd4	A	T	2: 90,737,909 (GRCm39)	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,535,506 (GRCm39)	F594L	probably damaging	Het
Klhdc4	C	T	8: 122,524,684 (GRCm39)	V446I	probably benign	Het
Klk1b1	A	G	7: 43,620,668 (GRCm39)	I253V	possibly damaging	Het
Kynu	T	A	2: 43,489,620 (GRCm39)	M135K	probably damaging	Het
Lgi1	T	C	19: 38,294,095 (GRCm39)	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,250,045 (GRCm39)	N288S	probably damaging	Het
Lrp6	G	C	6: 134,488,169 (GRCm39)	A309G	probably damaging	Het
Map2	T	A	1: 66,452,098 (GRCm39)	N329K	probably benign	Het
Med15	G	A	16: 17,473,421 (GRCm39)	P476L	unknown	Het
Muc16	A	T	9: 18,555,846 (GRCm39)	N3482K	unknown	Het
Nemf	A	C	12: 69,400,628 (GRCm39)	V149G	probably damaging	Het
Notch3	T	C	17: 32,370,521 (GRCm39)	S706G	probably benign	Het
Nphp4	T	C	4: 152,645,673 (GRCm39)	V1227A	possibly damaging	Het
Or1e31	A	G	11: 73,690,052 (GRCm39)	F177S	probably damaging	Het
Or2a52	A	T	6: 43,144,917 (GRCm39)	R308S	probably benign	Het
Or6c70	A	G	10: 129,710,488 (GRCm39)	L46P	probably damaging	Het
Parp2	A	G	14: 51,052,327 (GRCm39)	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,264 (GRCm39)	V555A	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,723,351 (GRCm39)	L1725R	probably damaging	Het
Reln	G	T	5: 22,130,198 (GRCm39)	D2704E	probably benign	Het
Sart3	C	A	5: 113,891,756 (GRCm39)	E405D	possibly damaging	Het
Scin	A	T	12: 40,131,703 (GRCm39)	L277*	probably null	Het
Sec62	T	A	3: 30,868,383 (GRCm39)	V204E	probably benign	Het
Serpina3a	T	C	12: 104,085,956 (GRCm39)	I137T	possibly damaging	Het
Sh3rf1	T	C	8: 61,825,613 (GRCm39)	M536T	probably benign	Het
Slc45a4	T	C	15: 73,457,953 (GRCm39)	H532R	probably damaging	Het
Svs5	A	G	2: 164,079,341 (GRCm39)	F189L	probably benign	Het
Synm	T	C	7: 67,408,766 (GRCm39)	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,147,215 (GRCm39)	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,201,929 (GRCm39)	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847 (GRCm39)	I85S	probably damaging	Het
Ush2a	T	A	1: 188,487,374 (GRCm39)	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,614,453 (GRCm39)	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884 (GRCm39)	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,296,742 (GRCm39)	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,725,292 (GRCm39)	D208V	probably damaging	Het
Zfp422	A	C	6: 116,604,086 (GRCm39)		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
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
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'- GAGGTCAAGTTTAAACATCCTCCC -3'
(R):5'- CTCAGAAGGGAGACATGCTTC -3'

Sequencing Primer
(F):5'- GTTTAAACATCCTCCCTCCACAG -3'
(R):5'- GGAGACATGCTTCCTCTTGGC -3'

Posted On

2021-12-30