Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02250:Lhx2'

286343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lhx2

Ensembl Gene

ENSMUSG00000000247

Gene Name

LIM homeobox protein 2

Synonyms

LH2A, ap, apterous, Lh-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02250

Quality Score

Status

Chromosome

Chromosomal Location

38229293-38259745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38244845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 236 (D236E)

Ref Sequence

ENSEMBL: ENSMUSP00000000253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000253] [ENSMUST00000133661] [ENSMUST00000143783] [ENSMUST00000155964] [ENSMUST00000176229]

AlphaFold

Q9Z0S2

Predicted Effect

probably benign
Transcript: ENSMUST00000000253
AA Change: D236E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000000253
Gene: ENSMUSG00000000247
AA Change: D236E

Domain	Start	End	E-Value	Type
LIM	52	105	6e-18	SMART
LIM	114	168	1.18e-16	SMART
low complexity region	187	206	N/A	INTRINSIC
HOX	266	328	8.07e-22	SMART
low complexity region	357	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133661

SMART Domains

Protein: ENSMUSP00000115179
Gene: ENSMUSG00000000247

Domain	Start	End	E-Value	Type
LIM	11	64	6e-18	SMART
LIM	73	127	1.18e-16	SMART
low complexity region	146	165	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137134

Predicted Effect

probably benign
Transcript: ENSMUST00000143783
AA Change: D195E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114797
Gene: ENSMUSG00000000247
AA Change: D195E

Domain	Start	End	E-Value	Type
LIM	11	64	6e-18	SMART
LIM	73	127	1.18e-16	SMART
low complexity region	146	165	N/A	INTRINSIC
HOX	225	287	8.07e-22	SMART
low complexity region	316	345	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149664

Predicted Effect

probably benign
Transcript: ENSMUST00000155964

SMART Domains

Protein: ENSMUSP00000121462
Gene: ENSMUSG00000000247

Domain	Start	End	E-Value	Type
LIM	11	64	2.9e-20	SMART
LIM	73	107	9.9e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175896

Predicted Effect

probably benign
Transcript: ENSMUST00000176229

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during fetal development and the perinatal period with abnormal liver, telencephalon, olfactory bulb, basal ganglion, and eye morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	A	7: 28,329,135 (GRCm39)		probably benign	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Areg	T	A	5: 91,288,967 (GRCm39)	I91K	possibly damaging	Het
Arf1	G	A	11: 59,103,993 (GRCm39)	R79C	probably benign	Het
Bbs2	A	T	8: 94,819,054 (GRCm39)	I105N	probably benign	Het
Ccdc158	A	T	5: 92,756,337 (GRCm39)	I1090N	probably damaging	Het
Ccdc90b	T	A	7: 92,223,823 (GRCm39)		probably benign	Het
Cep57	A	T	9: 13,721,939 (GRCm39)	F221I	probably damaging	Het
Ckap5	C	T	2: 91,379,246 (GRCm39)	A62V	probably damaging	Het
Cntn5	G	A	9: 10,145,336 (GRCm39)	R125C	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cxxc1	T	A	18: 74,352,240 (GRCm39)	D321E	probably benign	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dnm1l	A	G	16: 16,139,550 (GRCm39)		probably benign	Het
Eif2d	T	A	1: 131,088,166 (GRCm39)	S184T	probably benign	Het
Emcn	T	A	3: 137,124,747 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,326,899 (GRCm39)		probably benign	Het
Gas2	T	A	7: 51,537,786 (GRCm39)	M37K	probably damaging	Het
Habp2	A	G	19: 56,297,361 (GRCm39)	S100G	probably benign	Het
Kcnj5	A	G	9: 32,229,052 (GRCm39)	C49R	probably damaging	Het
Megf8	T	A	7: 25,042,000 (GRCm39)	S1273T	probably benign	Het
Mrps2	T	C	2: 28,359,557 (GRCm39)	I138T	possibly damaging	Het
Mta1	T	C	12: 113,090,418 (GRCm39)	S175P	possibly damaging	Het
Npat	T	A	9: 53,460,251 (GRCm39)	Y66*	probably null	Het
Nup160	A	G	2: 90,539,214 (GRCm39)	R798G	probably damaging	Het
Or52n2c	T	C	7: 104,574,222 (GRCm39)	I250V	probably damaging	Het
Or8b54	C	A	9: 38,686,850 (GRCm39)	Q100K	probably damaging	Het
Plxnc1	C	T	10: 94,706,893 (GRCm39)	G548E	probably benign	Het
Radil	A	G	5: 142,529,529 (GRCm39)	S56P	probably damaging	Het
Rpgrip1l	A	T	8: 91,959,489 (GRCm39)	M1137K	probably benign	Het
Serpina1c	T	G	12: 103,863,487 (GRCm39)	M238L	probably benign	Het
Tbc1d14	A	G	5: 36,728,863 (GRCm39)	S168P	probably damaging	Het
Tmem209	A	G	6: 30,487,387 (GRCm39)	S498P	probably damaging	Het
Utrn	A	G	10: 12,312,135 (GRCm39)	Y607H	probably damaging	Het
Vipr1	A	G	9: 121,494,255 (GRCm39)	I279V	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Xirp2	C	T	2: 67,344,356 (GRCm39)	T2199I	probably benign	Het
Zfp423	A	G	8: 88,509,883 (GRCm39)	S86P	probably damaging	Het
Zfp831	A	G	2: 174,489,994 (GRCm39)	K1254E	possibly damaging	Het
Zfp873	T	A	10: 81,894,252 (GRCm39)	M1K	probably null	Het

Other mutations in Lhx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02087:Lhx2	APN	2	38,258,849 (GRCm39)	splice site	probably benign
IGL02243:Lhx2	APN	2	38,243,531 (GRCm39)	splice site	probably benign
IGL03306:Lhx2	APN	2	38,244,628 (GRCm39)	missense	probably damaging	1.00
R3700:Lhx2	UTSW	2	38,250,111 (GRCm39)	missense	probably damaging	1.00
R3795:Lhx2	UTSW	2	38,243,359 (GRCm39)	missense	probably damaging	1.00
R4650:Lhx2	UTSW	2	38,250,052 (GRCm39)	missense	probably damaging	1.00
R4732:Lhx2	UTSW	2	38,250,003 (GRCm39)	missense	probably damaging	1.00
R4733:Lhx2	UTSW	2	38,250,003 (GRCm39)	missense	probably damaging	1.00
R5853:Lhx2	UTSW	2	38,259,053 (GRCm39)	missense	probably damaging	0.99
R7463:Lhx2	UTSW	2	38,241,858 (GRCm39)	missense	possibly damaging	0.55
R9089:Lhx2	UTSW	2	38,250,045 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16