Incidental Mutation 'R9197:Lhx5'
ID 697979
Institutional Source Beutler Lab
Gene Symbol Lhx5
Ensembl Gene ENSMUSG00000029595
Gene Name LIM homeobox protein 5
Synonyms Lim2
MMRRC Submission 068956-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R9197 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120569764-120579288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120573446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 143 (P143Q)
Ref Sequence ENSEMBL: ENSMUSP00000031591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031591]
AlphaFold P61375
Predicted Effect possibly damaging
Transcript: ENSMUST00000031591
AA Change: P143Q

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: P143Q

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 0.0859 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC048679 C T 7: 81,144,966 (GRCm39) V126M probably benign Het
Brd2 T C 17: 34,333,370 (GRCm39) Y427C probably damaging Het
Btbd1 T A 7: 81,443,363 (GRCm39) T474S probably damaging Het
Cacna1c T C 6: 118,590,950 (GRCm39) T1524A Het
Capn9 T A 8: 125,340,600 (GRCm39) V588D probably damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Ccr3 T C 9: 123,829,732 (GRCm39) S356P probably damaging Het
Cplane1 A T 15: 8,280,536 (GRCm39) I2820F unknown Het
Cyfip1 C T 7: 55,554,222 (GRCm39) H754Y probably null Het
Dolk A G 2: 30,174,693 (GRCm39) S451P probably damaging Het
Elac2 G A 11: 64,892,682 (GRCm39) A829T probably benign Het
Fahd2a T C 2: 127,278,284 (GRCm39) I308V possibly damaging Het
Gm7168 T A 17: 14,169,489 (GRCm39) N285K probably benign Het
Hgf T A 5: 16,766,059 (GRCm39) V65E probably benign Het
Igsf21 A T 4: 139,762,084 (GRCm39) L198Q probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ipo4 C T 14: 55,870,840 (GRCm39) R264H probably damaging Het
Jak2 C T 19: 29,289,157 (GRCm39) T1103I probably benign Het
Kdm4d T A 9: 14,375,537 (GRCm39) Y107F probably damaging Het
Lad1 T A 1: 135,759,630 (GRCm39) S509T probably benign Het
Lilra6 T C 7: 3,915,716 (GRCm39) T340A possibly damaging Het
Lrrc4 T C 6: 28,831,318 (GRCm39) H99R probably benign Het
Mmp11 T A 10: 75,763,067 (GRCm39) D175V probably damaging Het
Msh2 T A 17: 88,026,943 (GRCm39) M813K possibly damaging Het
Mvp T C 7: 126,588,959 (GRCm39) N603D probably damaging Het
Or5k3 T A 16: 58,969,489 (GRCm39) I92N probably damaging Het
Or8c18 G A 9: 38,204,080 (GRCm39) V280M possibly damaging Het
Pcdha2 A C 18: 37,072,879 (GRCm39) Y170S probably damaging Het
Pcdhb19 G A 18: 37,631,354 (GRCm39) C383Y probably damaging Het
Pcdhga2 A T 18: 37,804,553 (GRCm39) D799V probably benign Het
Pias3 A G 3: 96,611,064 (GRCm39) Y430C probably benign Het
Pign A G 1: 105,516,818 (GRCm39) F575L probably benign Het
Rin3 A T 12: 102,335,306 (GRCm39) I406F probably benign Het
Rpgrip1 A T 14: 52,382,857 (GRCm39) E674D possibly damaging Het
Snx13 T C 12: 35,155,196 (GRCm39) V420A probably benign Het
Spata31d1c A T 13: 65,183,690 (GRCm39) M411L probably benign Het
Spata31h1 C A 10: 82,120,401 (GRCm39) C4203F possibly damaging Het
Tmem150a T G 6: 72,333,722 (GRCm39) M28R probably benign Het
Trp53 T C 11: 69,480,000 (GRCm39) Y233H probably damaging Het
Ufl1 A G 4: 25,250,519 (GRCm39) I778T possibly damaging Het
Vmn2r89 T A 14: 51,693,596 (GRCm39) H315Q possibly damaging Het
Wapl T A 14: 34,444,244 (GRCm39) N565K probably damaging Het
Zfhx2 G A 14: 55,312,179 (GRCm39) Q172* probably null Het
Zfp592 T A 7: 80,674,067 (GRCm39) S344T possibly damaging Het
Zfp970 T C 2: 177,167,878 (GRCm39) I484T probably benign 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
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
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'- TTTCAAACCAAACCCGGGCTG -3'
(R):5'- ACCTGAATGACCCTCATGTTG -3'

Sequencing Primer
(F):5'- CAAACCCGGGCTGGAGAG -3'
(R):5'- CCAGCTGTTCGCGAATGTG -3'
Posted On 2022-02-07