Incidental Mutation 'R5853:Lhx2'
ID 454745
Institutional Source Beutler Lab
Gene Symbol Lhx2
Ensembl Gene ENSMUSG00000000247
Gene Name LIM homeobox protein 2
Synonyms LH2A, ap, apterous, Lh-2
MMRRC Submission 044068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5853 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 38229293-38259745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38259053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 378 (V378A)
Ref Sequence ENSEMBL: ENSMUSP00000000253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000253] [ENSMUST00000143783]
AlphaFold Q9Z0S2
Predicted Effect probably damaging
Transcript: ENSMUST00000000253
AA Change: V378A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000253
Gene: ENSMUSG00000000247
AA Change: V378A

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 possibly damaging
Transcript: ENSMUST00000143783
AA Change: V337A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114797
Gene: ENSMUSG00000000247
AA Change: V337A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 119,939,806 (GRCm39) V303I probably benign Het
Abca4 G T 3: 121,897,180 (GRCm39) V620L probably benign Het
Ankk1 A T 9: 49,329,995 (GRCm39) V320E possibly damaging Het
Aoah G T 13: 21,184,072 (GRCm39) A379S probably benign Het
Apol7e A G 15: 77,598,667 (GRCm39) D44G probably benign Het
Atf2 T C 2: 73,658,813 (GRCm39) probably null Het
Cd209b T C 8: 3,976,549 (GRCm39) probably null Het
Chek1 G A 9: 36,624,983 (GRCm39) S366L probably damaging Het
Chpf2 T C 5: 24,797,190 (GRCm39) L712P probably damaging Het
Clmn C A 12: 104,750,161 (GRCm39) probably null Het
Cnksr3 T C 10: 7,092,977 (GRCm39) D178G probably benign Het
Cpox T C 16: 58,495,780 (GRCm39) Y366H probably damaging Het
Dnah3 A G 7: 119,538,056 (GRCm39) F3632S probably damaging Het
Eif5b T A 1: 38,076,388 (GRCm39) D645E probably damaging Het
Emilin1 G A 5: 31,075,966 (GRCm39) E736K probably damaging Het
Gcnt4 G A 13: 97,083,160 (GRCm39) R152Q probably benign Het
Il6st T C 13: 112,618,071 (GRCm39) S162P probably damaging Het
Iqub T C 6: 24,491,601 (GRCm39) K362E probably benign Het
Kif22 G T 7: 126,632,539 (GRCm39) P257Q possibly damaging Het
Lipo3 A G 19: 33,759,630 (GRCm39) V202A probably benign Het
Lrp1b T A 2: 40,553,738 (GRCm39) N366I unknown Het
Mbip T C 12: 56,382,662 (GRCm39) D268G probably damaging Het
Mc5r A G 18: 68,472,564 (GRCm39) M308V probably benign Het
Mndal C A 1: 173,690,070 (GRCm39) G420V probably damaging Het
Nbea A T 3: 55,899,822 (GRCm39) N1442K probably damaging Het
Ndufv1 A T 19: 4,058,811 (GRCm39) probably null Het
Ofcc1 A G 13: 40,360,193 (GRCm39) S279P probably benign Het
Or4k2 A T 14: 50,424,326 (GRCm39) M116K possibly damaging Het
Or6b2b T C 1: 92,419,439 (GRCm39) I13V probably benign Het
Pabpc1l A T 2: 163,891,438 (GRCm39) H552L probably benign Het
Pigr T A 1: 130,774,341 (GRCm39) C440* probably null Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Prss30 C T 17: 24,191,820 (GRCm39) V271I probably damaging Het
Psme4 T A 11: 30,741,234 (GRCm39) probably null Het
Qrich1 T A 9: 108,410,807 (GRCm39) probably benign Het
Rem1 C G 2: 152,470,200 (GRCm39) A62G possibly damaging Het
Rftn1 T C 17: 50,354,354 (GRCm39) N58S probably damaging Het
Rp9 G A 9: 22,360,065 (GRCm39) probably benign Het
Rrp1b G A 17: 32,275,658 (GRCm39) V402I possibly damaging Het
Slc25a33 A T 4: 149,838,349 (GRCm39) Y108N probably benign Het
Slc3a1 A G 17: 85,340,008 (GRCm39) M189V probably damaging Het
Slc44a1 A C 4: 53,528,682 (GRCm39) K144T probably benign Het
Tbc1d13 T A 2: 30,027,393 (GRCm39) H100Q probably damaging Het
Timm29 T C 9: 21,504,749 (GRCm39) V139A probably damaging Het
Tmem70 T C 1: 16,735,556 (GRCm39) W9R possibly damaging Het
Tspan1 A G 4: 116,020,502 (GRCm39) probably null Het
Unc13a T C 8: 72,107,773 (GRCm39) probably null Het
Uroc1 T C 6: 90,323,738 (GRCm39) F395S probably damaging Het
Uvrag A C 7: 98,537,284 (GRCm39) L637R possibly damaging Het
Vmn1r213 T G 13: 23,195,684 (GRCm39) L3W probably benign Het
Zfp280d C T 9: 72,238,224 (GRCm39) T528I probably benign Het
Zfp526 C T 7: 24,924,601 (GRCm39) Q287* probably null Het
Other mutations in Lhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02087:Lhx2 APN 2 38,258,849 (GRCm39) splice site probably benign
IGL02243:Lhx2 APN 2 38,243,531 (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
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
Predicted Primers PCR Primer
(F):5'- TCTGGTTTCAGAATGCCCGG -3'
(R):5'- TCCTAAAACGTGGTTAGTTAGTTGC -3'

Sequencing Primer
(F):5'- AATGCCCGGGCCAAGTTC -3'
(R):5'- ACGTGGTTAGTTAGTTGCTCAAACC -3'
Posted On 2017-02-10