Incidental Mutation 'R4769:Lhx5'
ID 366324
Institutional Source Beutler Lab
Gene Symbol Lhx5
Ensembl Gene ENSMUSG00000029595
Gene Name LIM homeobox protein 5
Synonyms Lim2
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R4769 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 120431699-120441223 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120436438 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 269 (E269G)
Ref Sequence ENSEMBL: ENSMUSP00000031591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031591]
AlphaFold P61375
Predicted Effect probably benign
Transcript: ENSMUST00000031591
AA Change: E269G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: E269G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185026
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,660,217 S1264A probably benign Het
Adamts13 T G 2: 27,008,711 Y1361* probably null Het
Ahrr A T 13: 74,214,212 D389E probably damaging Het
Alx3 T C 3: 107,600,691 F172S probably damaging Het
Antxrl A G 14: 34,073,070 H485R possibly damaging Het
Aox4 A G 1: 58,259,148 D1091G probably null Het
Btbd1 T A 7: 81,805,810 Q271L probably benign Het
Cd209c A T 8: 3,944,953 N70K probably benign Het
Cdc14a C T 3: 116,294,750 probably null Het
Cenpe A G 3: 135,248,151 M1641V probably benign Het
Clec2e G A 6: 129,100,827 T16I probably benign Het
Clp1 T C 2: 84,725,875 D87G possibly damaging Het
Dpy19l1 A T 9: 24,426,148 F517I probably damaging Het
Dzip3 T C 16: 48,938,474 N646S probably damaging Het
Ephx1 T A 1: 180,995,978 Y188F possibly damaging Het
Etfa A T 9: 55,495,767 H81Q possibly damaging Het
Gigyf2 T A 1: 87,440,849 F1084I probably damaging Het
Heatr3 T C 8: 88,141,783 probably null Het
Ift81 G T 5: 122,594,593 H293N probably benign Het
Igkv9-120 G T 6: 68,050,367 R88S possibly damaging Het
Il6 T G 5: 30,018,078 L114* probably null Het
Ism2 A T 12: 87,299,581 M42K probably benign Het
Marveld1 T G 19: 42,147,995 M116R possibly damaging Het
Micall2 A G 5: 139,706,886 S911P probably damaging Het
Mier1 G A 4: 103,140,220 R195H probably benign Het
Muc2 T A 7: 141,699,691 probably null Het
Mybbp1a A G 11: 72,445,640 K486R probably damaging Het
Ncapd2 A C 6: 125,185,745 L179R probably damaging Het
Nos1 C T 5: 117,943,245 Q1171* probably null Het
Nrg1 T A 8: 31,917,972 I78F probably damaging Het
Olfr1163 T G 2: 88,070,729 T218P probably benign Het
Olfr220 T G 1: 174,448,958 F112V possibly damaging Het
Plek2 C T 12: 78,906,890 probably null Het
Plod2 A G 9: 92,595,272 H339R probably damaging Het
Pold1 C T 7: 44,535,071 C835Y probably damaging Het
Polr1a A G 6: 71,950,868 I868V probably benign Het
Prss54 C A 8: 95,559,375 V357L probably benign Het
Rbbp8 T A 18: 11,722,670 S625T probably damaging Het
Rgs1 A T 1: 144,247,929 L86Q probably damaging Het
Ripk4 T A 16: 97,744,062 N462Y probably damaging Het
Rsf1 C T 7: 97,676,222 L1011F probably damaging Het
Slc19a3 G A 1: 83,019,341 T382I probably damaging Het
Slc9a2 G A 1: 40,726,374 R308Q probably damaging Het
Top2b T A 14: 16,398,991 L537Q probably damaging Het
Trim45 C A 3: 100,931,734 probably benign Het
Umodl1 G T 17: 30,984,002 R443M possibly damaging Het
Vmn1r11 G A 6: 57,137,612 R87K probably damaging Het
Vmn1r78 T A 7: 12,152,798 I112N probably damaging Het
Zeb2 T G 2: 44,996,435 E825A probably damaging Het
Zfp930 A T 8: 69,226,692 I50F probably benign Het
Other mutations in Lhx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1793:Lhx5 UTSW 5 120434660 missense probably damaging 1.00
R2958:Lhx5 UTSW 5 120435477 missense probably benign 0.09
R3019:Lhx5 UTSW 5 120440005 missense probably benign 0.02
R4504:Lhx5 UTSW 5 120440008 missense possibly damaging 0.92
R4505:Lhx5 UTSW 5 120440008 missense possibly damaging 0.92
R4507:Lhx5 UTSW 5 120440008 missense possibly damaging 0.92
R4508:Lhx5 UTSW 5 120435434 missense probably damaging 0.99
R4671:Lhx5 UTSW 5 120439967 missense probably benign 0.01
R5547:Lhx5 UTSW 5 120434610 missense probably benign 0.32
R7122:Lhx5 UTSW 5 120436345 missense probably benign 0.35
R7439:Lhx5 UTSW 5 120440284 missense probably benign 0.01
R8911:Lhx5 UTSW 5 120436444 nonsense probably null
R9168:Lhx5 UTSW 5 120432345 missense probably benign 0.11
R9197:Lhx5 UTSW 5 120435381 missense possibly damaging 0.52
R9293:Lhx5 UTSW 5 120432386 missense probably benign 0.05
R9701:Lhx5 UTSW 5 120434598 missense possibly damaging 0.95
R9802:Lhx5 UTSW 5 120434598 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGTTCGCTGAAGCTTCTCTC -3'
(R):5'- GCCTGTGCTAATGAGTCTGTC -3'

Sequencing Primer
(F):5'- GACTAATCCGGCCCAGC -3'
(R):5'- GCTAATGAGTCTGTCGAGGAATG -3'
Posted On 2015-12-21