Mutagenetix > Incidental Mutation

Incidental Mutation 'R3795:Lhx2'

272711

Institutional Source

Beutler Lab

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 #

R3795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38229293-38259745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38243359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 12 (C12R)

Ref Sequence

ENSEMBL: ENSMUSP00000114797 (fasta)

Gene Model

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

AlphaFold

Q9Z0S2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000253
AA Change: C53R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000253
Gene: ENSMUSG00000000247
AA Change: C53R

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 damaging
Transcript: ENSMUST00000133661
AA Change: C12R

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

SMART Domains

Protein: ENSMUSP00000115179
Gene: ENSMUSG00000000247
AA Change: C12R

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

probably damaging
Transcript: ENSMUST00000143783
AA Change: C12R

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

SMART Domains

Protein: ENSMUSP00000114797
Gene: ENSMUSG00000000247
AA Change: C12R

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

possibly damaging
Transcript: ENSMUST00000155964
AA Change: C12R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121462
Gene: ENSMUSG00000000247
AA Change: C12R

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

Meta Mutation Damage Score

0.9710

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (32/33)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,212 (GRCm39)	T10A	probably benign	Het
Adh1	T	A	3: 137,985,526 (GRCm39)	L18H	possibly damaging	Het
Bltp1	A	G	3: 37,084,714 (GRCm39)	T426A	probably benign	Het
Capn13	C	A	17: 73,644,387 (GRCm39)	V381L	probably benign	Het
Cfap54	T	C	10: 92,778,735 (GRCm39)		probably benign	Het
Cmas	T	A	6: 142,713,594 (GRCm39)	D206E	probably benign	Het
Cntnap1	A	G	11: 101,077,590 (GRCm39)	E1084G	probably damaging	Het
Cpz	A	G	5: 35,669,093 (GRCm39)	V346A	probably benign	Het
Dhrs3	A	G	4: 144,645,962 (GRCm39)	D116G	probably damaging	Het
Efcab3	A	G	11: 104,624,501 (GRCm39)	E844G	possibly damaging	Het
Inpp4b	T	C	8: 82,759,845 (GRCm39)	V445A	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Map3k2	T	C	18: 32,359,701 (GRCm39)	M518T	probably benign	Het
Mrc1	T	A	2: 14,293,793 (GRCm39)		probably benign	Het
Nlrp4e	T	A	7: 23,020,228 (GRCm39)	D238E	probably benign	Het
Obscn	A	G	11: 58,922,667 (GRCm39)	Y6543H	probably damaging	Het
Pigv	A	G	4: 133,392,502 (GRCm39)	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,531,382 (GRCm39)	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,193 (GRCm39)	I18V	probably damaging	Het
Psg20	A	G	7: 18,418,374 (GRCm39)	V131A	probably benign	Het
Ptpro	T	C	6: 137,357,307 (GRCm39)	F266S	probably benign	Het
S100a7l2	T	C	3: 90,995,730 (GRCm39)	I57M	possibly damaging	Het
Sdk2	G	A	11: 113,747,522 (GRCm39)	R663*	probably null	Het
Szt2	G	T	4: 118,248,927 (GRCm39)	L586I	probably damaging	Het
Tln2	T	C	9: 67,163,197 (GRCm39)	I1113V	probably damaging	Het
Ube2ql1	G	T	13: 69,852,231 (GRCm39)	A282E	possibly damaging	Het
Vmn2r50	T	A	7: 9,771,851 (GRCm39)	M617L	probably benign	Het
Wdfy3	A	G	5: 102,085,466 (GRCm39)	V676A	probably damaging	Het
Wdr47	T	C	3: 108,532,053 (GRCm39)		probably null	Het
Zbp1	T	C	2: 173,053,972 (GRCm39)	H183R	probably benign	Het
Zfp352	C	T	4: 90,113,386 (GRCm39)	H509Y	probably damaging	Het
Zfp988	G	A	4: 147,416,040 (GRCm39)	R158Q	possibly damaging	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
IGL02250:Lhx2	APN	2	38,244,845 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTAGACCGTCCTCTAGGC -3'
(R):5'- ATTCTTTCCAAGGGTGCCCC -3'

Sequencing Primer
(F):5'- GTCCTCTAGGCGGATTCAGATATAAC -3'
(R):5'- GTGCCCCGAATTGCTAATTTAG -3'

Posted On

2015-03-25