Incidental Mutation 'IGL02243:Lhx2'
ID 286084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhx2
Ensembl Gene ENSMUSG00000000247
Gene Name LIM homeobox protein 2
Synonyms LH2A, ap, apterous, Lh-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02243
Quality Score
Status
Chromosome 2
Chromosomal Location 38229293-38259745 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 38243531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000253] [ENSMUST00000133661] [ENSMUST00000143783] [ENSMUST00000155964] [ENSMUST00000176229]
AlphaFold Q9Z0S2
Predicted Effect probably benign
Transcript: ENSMUST00000000253
SMART Domains Protein: ENSMUSP00000000253
Gene: ENSMUSG00000000247

DomainStartEndE-ValueType
LIM 52 105 6e-18 SMART
LIM 114 168 1.18e-16 SMART
low complexity region 187 206 N/A INTRINSIC
HOX 266 328 8.07e-22 SMART
low complexity region 357 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133661
SMART Domains Protein: ENSMUSP00000115179
Gene: ENSMUSG00000000247

DomainStartEndE-ValueType
LIM 11 64 6e-18 SMART
LIM 73 127 1.18e-16 SMART
low complexity region 146 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143783
SMART Domains Protein: ENSMUSP00000114797
Gene: ENSMUSG00000000247

DomainStartEndE-ValueType
LIM 11 64 6e-18 SMART
LIM 73 127 1.18e-16 SMART
low complexity region 146 165 N/A INTRINSIC
HOX 225 287 8.07e-22 SMART
low complexity region 316 345 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149664
Predicted Effect probably benign
Transcript: ENSMUST00000155964
SMART Domains Protein: ENSMUSP00000121462
Gene: ENSMUSG00000000247

DomainStartEndE-ValueType
LIM 11 64 2.9e-20 SMART
LIM 73 107 9.9e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175896
Predicted Effect probably benign
Transcript: ENSMUST00000176229
Coding Region Coverage
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. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during fetal development and the perinatal period with abnormal liver, telencephalon, olfactory bulb, basal ganglion, and eye morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Lhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02087:Lhx2 APN 2 38,258,849 (GRCm39) splice site probably benign
IGL02250:Lhx2 APN 2 38,244,845 (GRCm39) missense probably benign 0.00
IGL03306:Lhx2 APN 2 38,244,628 (GRCm39) missense probably damaging 1.00
R3700:Lhx2 UTSW 2 38,250,111 (GRCm39) missense probably damaging 1.00
R3795:Lhx2 UTSW 2 38,243,359 (GRCm39) missense probably damaging 1.00
R4650:Lhx2 UTSW 2 38,250,052 (GRCm39) missense probably damaging 1.00
R4732:Lhx2 UTSW 2 38,250,003 (GRCm39) missense probably damaging 1.00
R4733:Lhx2 UTSW 2 38,250,003 (GRCm39) missense probably damaging 1.00
R5853:Lhx2 UTSW 2 38,259,053 (GRCm39) missense probably damaging 0.99
R7463:Lhx2 UTSW 2 38,241,858 (GRCm39) missense possibly damaging 0.55
R9089:Lhx2 UTSW 2 38,250,045 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16