Mutagenetix > Incidental Mutation

Incidental Mutation 'R5184:Barhl2'

397743

Institutional Source

Beutler Lab

Gene Symbol

Barhl2

Ensembl Gene

ENSMUSG00000034384

Gene Name

BarH like homeobox 2

Synonyms

MBH1, E130309B19Rik

MMRRC Submission

042763-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106600389-106606032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106605506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 68 (S68P)

Ref Sequence

ENSEMBL: ENSMUSP00000084005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086795]

AlphaFold

Q8VIB5

Predicted Effect

unknown
Transcript: ENSMUST00000086795
AA Change: S68P

SMART Domains

Protein: ENSMUSP00000084005
Gene: ENSMUSG00000034384
AA Change: S68P

Domain	Start	End	E-Value	Type
low complexity region	83	138	N/A	INTRINSIC
HOX	229	291	4.6e-26	SMART

Meta Mutation Damage Score

0.1589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (63/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display postnatal lethality with slow weight gain, impaired coordination, decreased numbers of retinal ganglion cells and retinal amacrine cells, and abnormal eye electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aph1a	T	A	3: 95,803,051 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,786,603 (GRCm39)	E452G	possibly damaging	Het
Carf	T	C	1: 60,147,333 (GRCm39)	S17P	probably damaging	Het
Ccdc90b	A	G	7: 92,224,019 (GRCm39)	D145G	probably damaging	Het
Cyp7a1	A	T	4: 6,271,207 (GRCm39)	N316K	probably benign	Het
Daam2	A	G	17: 49,801,419 (GRCm39)	I106T	possibly damaging	Het
Dmtf1	A	G	5: 9,176,641 (GRCm39)	V437A	probably benign	Het
E2f2	A	T	4: 135,911,751 (GRCm39)	Y254F	possibly damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Ern2	T	C	7: 121,779,182 (GRCm39)	T221A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fermt1	A	G	2: 132,783,883 (GRCm39)	V42A	possibly damaging	Het
Fgf3	A	G	7: 144,396,547 (GRCm39)	D187G	probably damaging	Het
Flnb	T	A	14: 7,901,945 (GRCm38)	V936E	probably damaging	Het
Herc2	T	C	7: 55,772,099 (GRCm39)	Y1093H	probably damaging	Het
Invs	A	G	4: 48,283,242 (GRCm39)		probably benign	Het
Katnb1	T	A	8: 95,824,608 (GRCm39)	I534N	possibly damaging	Het
Kcnq5	A	T	1: 21,472,711 (GRCm39)	D826E	probably damaging	Het
Klra9	A	T	6: 130,165,675 (GRCm39)	N113K	probably benign	Het
Knl1	A	G	2: 118,899,657 (GRCm39)	K453E	probably damaging	Het
Lgi4	C	T	7: 30,770,182 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,739,058 (GRCm39)	S289G	probably benign	Het
Mapre1	T	A	2: 153,599,987 (GRCm39)	V137E	possibly damaging	Het
Mark4	A	G	7: 19,181,168 (GRCm39)	F144L	possibly damaging	Het
Mogat2	G	T	7: 98,872,842 (GRCm39)	A114E	possibly damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nell2	A	G	15: 95,425,690 (GRCm39)	L19P	possibly damaging	Het
Nfia	A	T	4: 97,671,585 (GRCm39)	K98N	probably damaging	Het
Nutm1	T	A	2: 112,079,345 (GRCm39)	T857S	possibly damaging	Het
Or14a257	TG	T	7: 86,138,499 (GRCm39)		probably null	Het
Or52a5	T	C	7: 103,426,611 (GRCm39)	K314E	probably benign	Het
Or8g17	T	A	9: 38,929,998 (GRCm39)	I280F	probably damaging	Het
Pde10a	T	C	17: 9,195,987 (GRCm39)	L706P	probably damaging	Het
Penk	A	G	4: 4,134,296 (GRCm39)	L117P	probably damaging	Het
Pgap1	A	G	1: 54,521,015 (GRCm39)	S876P	probably damaging	Het
Pmfbp1	T	C	8: 110,254,399 (GRCm39)	I478T	possibly damaging	Het
Pole	G	A	5: 110,442,800 (GRCm39)	E318K	possibly damaging	Het
Prr12	C	A	7: 44,695,801 (GRCm39)	V1222L	unknown	Het
Prune2	T	C	19: 17,193,721 (GRCm39)	S3070P	possibly damaging	Het
Rnf19a	A	G	15: 36,244,342 (GRCm39)	C573R	probably benign	Het
Rp1l1	T	C	14: 64,267,629 (GRCm39)	S1072P	probably damaging	Het
Rskr	T	C	11: 78,183,573 (GRCm39)	F194L	probably benign	Het
Semp2l1	A	T	1: 32,584,729 (GRCm39)	C394S	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,850 (GRCm39)	N315S	possibly damaging	Het
Snph	T	C	2: 151,436,464 (GRCm39)	I86V	probably damaging	Het
Sox6	A	G	7: 115,376,463 (GRCm39)	Y90H	probably damaging	Het
Tbc1d13	T	A	2: 30,032,323 (GRCm39)	C145S	probably benign	Het
Tcp11l1	T	C	2: 104,530,289 (GRCm39)	E65G	probably damaging	Het
Thrb	G	T	14: 18,011,181 (GRCm38)	E186*	probably null	Het
Tmem101	A	G	11: 102,047,059 (GRCm39)	Y38H	possibly damaging	Het
Trarg1	T	A	11: 76,571,134 (GRCm39)	L50Q	probably damaging	Het
Urb1	A	T	16: 90,580,162 (GRCm39)		probably null	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Usp25	A	G	16: 76,906,115 (GRCm39)	E857G	probably benign	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr35	T	C	12: 9,068,142 (GRCm39)	L775P	probably damaging	Het
Xpnpep1	T	C	19: 53,001,845 (GRCm39)	T134A	probably benign	Het
Zbtb10	T	C	3: 9,329,731 (GRCm39)	V363A	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het

Other mutations in Barhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00332:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00339:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00418:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00421:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00425:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00428:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00432:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00471:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL02548:Barhl2	APN	5	106,603,391 (GRCm39)	missense	probably benign	0.22
BB001:Barhl2	UTSW	5	106,605,515 (GRCm39)	missense	unknown
BB011:Barhl2	UTSW	5	106,605,515 (GRCm39)	missense	unknown
R0310:Barhl2	UTSW	5	106,605,253 (GRCm39)	missense	possibly damaging	0.93
R1662:Barhl2	UTSW	5	106,601,365 (GRCm39)	missense	probably benign	0.02
R1749:Barhl2	UTSW	5	106,605,572 (GRCm39)	missense	unknown
R1974:Barhl2	UTSW	5	106,605,179 (GRCm39)	missense	probably benign	0.35
R5195:Barhl2	UTSW	5	106,601,305 (GRCm39)	missense	possibly damaging	0.96
R5604:Barhl2	UTSW	5	106,603,412 (GRCm39)	missense	probably benign	0.07
R6026:Barhl2	UTSW	5	106,603,474 (GRCm39)	missense	probably benign	0.04
R7924:Barhl2	UTSW	5	106,605,515 (GRCm39)	missense	unknown
R8906:Barhl2	UTSW	5	106,603,352 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCTGTCTCCCAAGATGTC -3'
(R):5'- GGTCGAGTTTTGGAATAGACAC -3'

Sequencing Primer
(F):5'- TCCCAAGATGTCCTTAATTAAAAAGG -3'
(R):5'- GAATAGACACTATTTTGTCCGGTGCC -3'

Posted On

2016-07-06