Incidental Mutation 'IGL02243:Lhx2'
ID286084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhx2
Ensembl Gene ENSMUSG00000000247
Gene NameLIM homeobox protein 2
SynonymsLH2A, Lh-2, ap, apterous
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02243
Quality Score
Status
Chromosome2
Chromosomal Location38339281-38369733 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 38353519 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000253] [ENSMUST00000133661] [ENSMUST00000143783] [ENSMUST00000155964] [ENSMUST00000176229]
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: 80,302,341 Y87C probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Brsk2 T C 7: 141,993,299 F493S probably damaging Het
Cd19 T C 7: 126,410,793 probably null Het
Chd2 T C 7: 73,497,708 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ddx19a T G 8: 110,976,456 I450L probably benign Het
Edn2 G A 4: 120,162,032 probably null Het
Elp2 G A 18: 24,622,606 R470Q probably benign Het
Fhdc1 T G 3: 84,474,640 M1L possibly damaging Het
Gba2 A T 4: 43,568,719 I619N probably benign Het
Glce A G 9: 62,070,140 F154S probably damaging Het
Gm3476 A T 14: 6,122,811 C195* probably null Het
Hsp90aa1 A G 12: 110,695,091 S164P probably damaging Het
Iqcg T C 16: 33,045,592 D127G probably damaging Het
Jag2 G A 12: 112,916,345 T381I possibly damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lrrc2 A T 9: 110,970,057 N158I probably damaging Het
M1ap C T 6: 83,026,288 P389S probably damaging Het
Maats1 T C 16: 38,341,780 probably benign Het
Masp2 A T 4: 148,603,068 D104V probably benign Het
Met G A 6: 17,549,094 V982I probably damaging Het
Msh2 T A 17: 87,678,368 probably benign Het
Myh9 A G 15: 77,767,482 L1509P probably damaging Het
Mylk2 A G 2: 152,920,553 H554R probably damaging Het
Oxr1 T G 15: 41,535,701 probably benign Het
Pdp1 A T 4: 11,961,873 V146D probably benign Het
Pdzrn4 A T 15: 92,770,696 M910L probably benign Het
Prl2a1 T C 13: 27,807,417 probably benign Het
Rapgef6 C T 11: 54,676,400 P1136S probably damaging Het
Rasgef1c A T 11: 49,957,390 S69C possibly damaging Het
Rnaseh1 C T 12: 28,655,632 R152W probably damaging Het
Sele T C 1: 164,052,968 V373A probably benign Het
Tmem67 G A 4: 12,070,584 S314L possibly damaging Het
Traf4 T C 11: 78,160,517 E271G probably benign Het
Trim39 T C 17: 36,260,384 D494G probably damaging Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Other mutations in Lhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02087:Lhx2 APN 2 38368837 splice site probably benign
IGL02250:Lhx2 APN 2 38354833 missense probably benign 0.00
IGL03306:Lhx2 APN 2 38354616 missense probably damaging 1.00
R3700:Lhx2 UTSW 2 38360099 missense probably damaging 1.00
R3795:Lhx2 UTSW 2 38353347 missense probably damaging 1.00
R4650:Lhx2 UTSW 2 38360040 missense probably damaging 1.00
R4732:Lhx2 UTSW 2 38359991 missense probably damaging 1.00
R4733:Lhx2 UTSW 2 38359991 missense probably damaging 1.00
R5853:Lhx2 UTSW 2 38369041 missense probably damaging 0.99
R7463:Lhx2 UTSW 2 38351846 missense possibly damaging 0.55
Posted On2015-04-16