Incidental Mutation 'R4504:Lhx5'
ID 331924
Institutional Source Beutler Lab
Gene Symbol Lhx5
Ensembl Gene ENSMUSG00000029595
Gene Name LIM homeobox protein 5
Synonyms Lim2
MMRRC Submission 041755-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R4504 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120569764-120579288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120578073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 298 (H298N)
Ref Sequence ENSEMBL: ENSMUSP00000031591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031591]
AlphaFold P61375
Predicted Effect possibly damaging
Transcript: ENSMUST00000031591
AA Change: H298N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: H298N

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
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (45/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A G 14: 44,407,899 (GRCm39) S45P probably damaging Het
Adgrg4 C T X: 55,961,802 (GRCm39) R1124C possibly damaging Het
Anxa13 T C 15: 58,228,052 (GRCm39) noncoding transcript Het
Arhgap32 C A 9: 32,093,135 (GRCm39) probably null Het
Carm1 T C 9: 21,480,822 (GRCm39) F99L probably damaging Het
Dennd1b A G 1: 139,013,665 (GRCm39) E253G possibly damaging Het
Dsg4 A G 18: 20,594,493 (GRCm39) I541V probably benign Het
Dstyk A G 1: 132,362,127 (GRCm39) T186A possibly damaging Het
Ear1 A T 14: 44,056,721 (GRCm39) V49D probably benign Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fndc8 T A 11: 82,783,226 (GRCm39) M69K probably benign Het
Golga1 T C 2: 38,913,466 (GRCm39) I482V probably benign Het
Hivep3 G A 4: 119,590,990 (GRCm39) probably benign Het
Igkv13-85 A G 6: 68,907,356 (GRCm39) F82L probably damaging Het
Itih1 G A 14: 30,657,842 (GRCm39) R410C probably damaging Het
Kcnc2 T C 10: 112,291,699 (GRCm39) W296R probably damaging Het
Kcnq3 A T 15: 65,867,191 (GRCm39) Y817* probably null Het
Kif3b T C 2: 153,165,564 (GRCm39) probably null Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Notch1 A G 2: 26,362,189 (GRCm39) V1022A probably benign Het
Npc1l1 A G 11: 6,178,741 (GRCm39) L223S possibly damaging Het
Or11m3 T C 15: 98,396,015 (GRCm39) F221L probably benign Het
Or4c10 C T 2: 89,760,695 (GRCm39) P181S possibly damaging Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pbxip1 A G 3: 89,353,690 (GRCm39) D281G possibly damaging Het
Pcdhga8 G C 18: 37,949,816 (GRCm39) V411L probably damaging Het
Pcsk5 C T 19: 17,429,319 (GRCm39) C1553Y probably damaging Het
Pdgfc A C 3: 81,082,298 (GRCm39) M164L probably benign Het
Pdzd8 T C 19: 59,333,880 (GRCm39) Y47C probably damaging Het
Pip5k1c T A 10: 81,150,945 (GRCm39) I633N probably damaging Het
Pkn1 G A 8: 84,419,556 (GRCm39) R16* probably null Het
Pole2 A G 12: 69,269,242 (GRCm39) V85A probably benign Het
Ppp4c A C 7: 126,386,637 (GRCm39) L150R probably damaging Het
Pramel25 G C 4: 143,520,553 (GRCm39) E102Q probably benign Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Rnf144a T A 12: 26,377,302 (GRCm39) R92S probably benign Het
Sbno2 C A 10: 79,896,326 (GRCm39) R898L possibly damaging Het
Scnn1b A C 7: 121,511,698 (GRCm39) N370T probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Vps13a T C 19: 16,672,866 (GRCm39) E1302G possibly damaging Het
Other mutations in Lhx5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9168:Lhx5 UTSW 5 120,570,410 (GRCm39) missense probably benign 0.11
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'- TGTACTGACAGCCCTATCTGG -3'
(R):5'- AGGACTCTTGAGGCTTACCC -3'

Sequencing Primer
(F):5'- CCTATCTGGGCGCCCTG -3'
(R):5'- ATACGGCCGCTTCGTTGAG -3'
Posted On 2015-07-21