Mutagenetix > Incidental Mutation

Incidental Mutation 'R9168:Lhx5'

696175

Institutional Source

Beutler Lab

Gene Symbol

Lhx5

Ensembl Gene

ENSMUSG00000029595

Gene Name

LIM homeobox protein 5

Synonyms

Lim2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R9168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120569764-120579288 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120570410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000031591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031591]

AlphaFold

P61375

Predicted Effect

probably benign
Transcript: ENSMUST00000031591
AA Change: D22G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: D22G

Domain	Start	End	E-Value	Type
LIM	4	55	1.7e-17	SMART
LIM	63	118	3e-18	SMART
low complexity region	120	135	N/A	INTRINSIC
low complexity region	140	153	N/A	INTRINSIC
HOX	180	242	1.33e-22	SMART
low complexity region	276	287	N/A	INTRINSIC
low complexity region	300	311	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC
low complexity region	370	384	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

97% (67/69)

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 and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null mutation display defective hippocampal development and die within a few days after birth. Postmitotic hippocampal cells are unable to differentiate properly and migrate to correct positions, resulting in structural anomalies of the Ammon's horn and the dentate gyrus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alppl2	T	C	1: 87,015,050 (GRCm39)	Y437C	probably damaging	Het
Arhgef11	T	G	3: 87,633,790 (GRCm39)	L808R	probably damaging	Het
Armc7	G	A	11: 115,366,724 (GRCm39)		probably benign	Het
Ascl1	T	C	10: 87,328,361 (GRCm39)	N197S	probably benign	Het
Cdc42bpb	T	G	12: 111,286,517 (GRCm39)	E630D	possibly damaging	Het
Cep128	T	C	12: 91,233,794 (GRCm39)	I425V	probably damaging	Het
Ces4a	T	A	8: 105,876,050 (GRCm39)	D530E	probably benign	Het
Ch25h	T	C	19: 34,451,905 (GRCm39)	I208V	probably benign	Het
Cnpy3	A	C	17: 47,063,019 (GRCm39)	C11G	unknown	Het
Col12a1	A	C	9: 79,548,783 (GRCm39)	Y2187*	probably null	Het
Cyp2c40	C	T	19: 39,755,819 (GRCm39)	M498I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,113 (GRCm39)	Y233F	probably damaging	Het
Dffa	A	T	4: 149,192,226 (GRCm39)	D100V	probably damaging	Het
Dock7	A	T	4: 98,953,643 (GRCm39)	M363K		Het
Dscam	A	G	16: 96,420,768 (GRCm39)	V1706A	possibly damaging	Het
En1	A	G	1: 120,530,892 (GRCm39)	D44G	unknown	Het
Enpp4	T	A	17: 44,413,141 (GRCm39)	N131I	probably damaging	Het
Ezh1	T	C	11: 101,086,433 (GRCm39)	D587G	probably damaging	Het
Gm21149	G	T	5: 15,677,132 (GRCm39)	H241N	possibly damaging	Het
Gna15	T	C	10: 81,350,192 (GRCm39)	Y70C	probably damaging	Het
Gucy1a1	T	G	3: 82,009,353 (GRCm39)	M552L	probably damaging	Het
Herc2	G	A	7: 55,802,208 (GRCm39)	V2017M	probably damaging	Het
Hsf4	C	T	8: 105,999,373 (GRCm39)	A297V	probably benign	Het
Ighd	T	A	12: 113,379,203 (GRCm39)	T122S		Het
Iqca1	C	T	1: 90,065,937 (GRCm39)	R218Q	probably damaging	Het
Isl2	C	A	9: 55,452,227 (GRCm39)	S266R	probably benign	Het
Itpkb	A	C	1: 180,160,028 (GRCm39)	R51S	probably benign	Het
Jup	A	T	11: 100,274,219 (GRCm39)		probably null	Het
Kbtbd6	T	C	14: 79,690,553 (GRCm39)	V416A	possibly damaging	Het
Klhl22	T	A	16: 17,602,068 (GRCm39)	Y372N	probably damaging	Het
Klrc3	T	C	6: 129,616,142 (GRCm39)	E191G	probably damaging	Het
Marchf9	GGGCGGCGGCGGCGGCG	GGGCGGCGGCGGCG	10: 126,895,360 (GRCm39)		probably benign	Het
Mbtps1	A	G	8: 120,248,602 (GRCm39)	I707T	probably benign	Het
Nbeal1	T	A	1: 60,331,047 (GRCm39)	Y2219N	probably damaging	Het
Neb	A	G	2: 52,085,696 (GRCm39)	I5513T	probably damaging	Het
Nkx1-1	C	T	5: 33,591,131 (GRCm39)	V64M	unknown	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or2g25	T	C	17: 37,971,047 (GRCm39)	Y59C	probably damaging	Het
Or52e18	A	G	7: 104,609,001 (GRCm39)	*313R	probably null	Het
Or7e173	T	C	9: 19,938,818 (GRCm39)	M139V	probably benign	Het
Osbpl3	A	T	6: 50,329,762 (GRCm39)		probably null	Het
Phc3	T	A	3: 30,961,544 (GRCm39)	M963L	probably benign	Het
Phf20	C	T	2: 156,109,234 (GRCm39)	P194S	probably benign	Het
Pou1f1	C	T	16: 65,317,427 (GRCm39)		probably benign	Het
Pramel46	T	A	5: 95,418,133 (GRCm39)	M288L	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prelid1	A	G	13: 55,470,010 (GRCm39)	K3R	possibly damaging	Het
Psd	C	A	19: 46,309,233 (GRCm39)	D575Y	probably damaging	Het
Ptger3	C	A	3: 157,273,424 (GRCm39)	T257K	probably damaging	Het
Pth1r	T	C	9: 110,556,204 (GRCm39)	H223R	probably benign	Het
Ptk2b	C	T	14: 66,424,899 (GRCm39)	E182K	probably damaging	Het
Ptprj	T	C	2: 90,294,916 (GRCm39)	T431A	possibly damaging	Het
Rbbp5	T	A	1: 132,417,464 (GRCm39)	D119E	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rinl	T	G	7: 28,490,084 (GRCm39)	L41R	possibly damaging	Het
Rrp12	A	G	19: 41,865,603 (GRCm39)	V730A	probably benign	Het
Saraf	G	T	8: 34,632,343 (GRCm39)	V141L	possibly damaging	Het
Slc6a13	T	C	6: 121,302,042 (GRCm39)	L208P	probably damaging	Het
Slc9a9	C	A	9: 94,595,000 (GRCm39)	T170K	probably damaging	Het
Spata31f1e	T	C	4: 42,793,380 (GRCm39)	T251A	probably benign	Het
Stk33	T	C	7: 108,928,747 (GRCm39)	N255S	probably damaging	Het
Tenm2	C	T	11: 35,930,722 (GRCm39)	V1769M	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tmem116	T	C	5: 121,605,975 (GRCm39)	V109A		Het
Tnfaip2	T	A	12: 111,411,382 (GRCm39)	L2Q	probably damaging	Het
Trub1	T	C	19: 57,452,859 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,679,260 (GRCm39)	V10821I	unknown	Het
Ube2j1	C	A	4: 33,045,111 (GRCm39)	A197D	probably benign	Het
Vmn2r101	T	A	17: 19,809,138 (GRCm39)	I89N	probably damaging	Het
Wfikkn1	T	C	17: 26,097,145 (GRCm39)	Y393C	probably damaging	Het
Zfp729b	C	A	13: 67,741,942 (GRCm39)	E108*	probably null	Het
Zfp976	A	T	7: 42,263,011 (GRCm39)	C276*	probably null	Het

Other mutations in Lhx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1793:Lhx5	UTSW	5	120,572,725 (GRCm39)	missense	probably damaging	1.00
R2958:Lhx5	UTSW	5	120,573,542 (GRCm39)	missense	probably benign	0.09
R3019:Lhx5	UTSW	5	120,578,070 (GRCm39)	missense	probably benign	0.02
R4504:Lhx5	UTSW	5	120,578,073 (GRCm39)	missense	possibly damaging	0.92
R4505:Lhx5	UTSW	5	120,578,073 (GRCm39)	missense	possibly damaging	0.92
R4507:Lhx5	UTSW	5	120,578,073 (GRCm39)	missense	possibly damaging	0.92
R4508:Lhx5	UTSW	5	120,573,499 (GRCm39)	missense	probably damaging	0.99
R4671:Lhx5	UTSW	5	120,578,032 (GRCm39)	missense	probably benign	0.01
R4769:Lhx5	UTSW	5	120,574,503 (GRCm39)	missense	probably benign	0.22
R5547:Lhx5	UTSW	5	120,572,675 (GRCm39)	missense	probably benign	0.32
R7122:Lhx5	UTSW	5	120,574,410 (GRCm39)	missense	probably benign	0.35
R7439:Lhx5	UTSW	5	120,578,349 (GRCm39)	missense	probably benign	0.01
R8911:Lhx5	UTSW	5	120,574,509 (GRCm39)	nonsense	probably null
R9197:Lhx5	UTSW	5	120,573,446 (GRCm39)	missense	possibly damaging	0.52
R9293:Lhx5	UTSW	5	120,570,451 (GRCm39)	missense	probably benign	0.05
R9701:Lhx5	UTSW	5	120,572,663 (GRCm39)	missense	possibly damaging	0.95
R9802:Lhx5	UTSW	5	120,572,663 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCGAGAAGTCTTGGTTGATCCG -3'
(R):5'- TAATTCCCAAGGAGCCAGAGTAG -3'

Sequencing Primer
(F):5'- AGAAGTCTTGGTTGATCCGTAACG -3'
(R):5'- CCAAGGAGCCAGAGTAGAGCTC -3'

Posted On

2022-02-07