Incidental Mutation 'R2958:Lhx5'
ID 263265
Institutional Source Beutler Lab
Gene Symbol Lhx5
Ensembl Gene ENSMUSG00000029595
Gene Name LIM homeobox protein 5
Synonyms Lim2
MMRRC Submission 040519-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R2958 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 120569764-120579288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120573542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 175 (N175S)
Ref Sequence ENSEMBL: ENSMUSP00000031591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031591]
AlphaFold P61375
Predicted Effect probably benign
Transcript: ENSMUST00000031591
AA Change: N175S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: N175S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T A 18: 36,767,782 (GRCm39) L1233Q probably damaging Het
Cdk5rap2 ATGTG ATG 4: 70,208,214 (GRCm39) probably null Het
Cep78 C A 19: 15,956,273 (GRCm39) R222L probably damaging Het
Eml5 T C 12: 98,842,437 (GRCm39) I220M possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Nrg3 G T 14: 39,194,669 (GRCm39) A30E unknown Het
Numa1 C A 7: 101,658,702 (GRCm39) R1663S possibly damaging Het
Nwd2 G A 5: 63,963,325 (GRCm39) V970I probably benign Het
Or51ah3 T C 7: 103,210,512 (GRCm39) V276A possibly damaging Het
Snx18 G A 13: 113,753,422 (GRCm39) Q504* probably null Het
Tdrd9 T C 12: 112,008,106 (GRCm39) V982A probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tor4a G T 2: 25,084,980 (GRCm39) Q308K possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Lhx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1793:Lhx5 UTSW 5 120,572,725 (GRCm39) missense probably damaging 1.00
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
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'- GACAGATAGCGCTGACACAG -3'
(R):5'- ACGACTGTCTCTACGCAACC -3'

Sequencing Primer
(F):5'- AGCTGTCCTGTCCCCAATC -3'
(R):5'- CGTTCACAGACTACGCTGC -3'
Posted On 2015-02-05