Incidental Mutation 'IGL03181:Lefty2'
ID 412234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lefty2
Ensembl Gene ENSMUSG00000066652
Gene Name left-right determination factor 2
Synonyms Leftb, Ebaf, 6030463A22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 1
Chromosomal Location 180720673-180726668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180725115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 282 (N282D)
Ref Sequence ENSEMBL: ENSMUSP00000082952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085797]
AlphaFold P57785
Predicted Effect probably damaging
Transcript: ENSMUST00000085797
AA Change: N282D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082952
Gene: ENSMUSG00000066652
AA Change: N282D

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 13 240 7.4e-33 PFAM
TGFB 265 356 6.35e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155546
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This protein is also important in self-renewal and differentiation of mouse embryonic stem cells. Mice lacking a functional copy of this gene exhibit defects in axial and left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit embryonic lethality, defects in axial patterning, absent notochord, somites, head folds and heart, and defects yolk sac development. Mice homozygous for another allele exhibit postnatal lethality and left isomerism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Lefty2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5585:Lefty2 UTSW 1 180,720,828 (GRCm39) missense possibly damaging 0.88
R5834:Lefty2 UTSW 1 180,720,716 (GRCm39) start gained probably benign
R6721:Lefty2 UTSW 1 180,722,166 (GRCm39) missense probably damaging 0.98
R8921:Lefty2 UTSW 1 180,725,043 (GRCm39) missense possibly damaging 0.95
R9010:Lefty2 UTSW 1 180,722,172 (GRCm39) missense probably damaging 0.99
R9215:Lefty2 UTSW 1 180,725,145 (GRCm39) missense probably benign
R9612:Lefty2 UTSW 1 180,722,286 (GRCm39) missense probably damaging 0.97
Z1088:Lefty2 UTSW 1 180,725,280 (GRCm39) missense probably damaging 0.99
Z1177:Lefty2 UTSW 1 180,722,343 (GRCm39) missense possibly damaging 0.69
Posted On 2016-08-02