Incidental Mutation 'R6721:Lefty2'
ID 529567
Institutional Source Beutler Lab
Gene Symbol Lefty2
Ensembl Gene ENSMUSG00000066652
Gene Name left-right determination factor 2
Synonyms Leftb, Ebaf, 6030463A22Rik
MMRRC Submission 044839-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6721 (G1)
Quality Score 162.009
Status Validated
Chromosome 1
Chromosomal Location 180720673-180726668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180722166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 168 (V168A)
Ref Sequence ENSEMBL: ENSMUSP00000082952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085797]
AlphaFold P57785
Predicted Effect probably damaging
Transcript: ENSMUST00000085797
AA Change: V168A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082952
Gene: ENSMUSG00000066652
AA Change: V168A

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 13 240 7.4e-33 PFAM
TGFB 265 356 6.35e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155546
Meta Mutation Damage Score 0.5713 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,634 (GRCm39) L3588S probably benign Het
Ankrd27 T C 7: 35,311,976 (GRCm39) F402S probably damaging Het
Aplp1 T C 7: 30,139,720 (GRCm39) Q359R probably null Het
Arhgef10l T C 4: 140,297,655 (GRCm39) Y546C probably damaging Het
Bltp2 T C 11: 78,170,625 (GRCm39) Y1615H probably damaging Het
Cd46 T C 1: 194,765,939 (GRCm39) Y142C probably damaging Het
Cfap418 A G 4: 10,874,744 (GRCm39) N44D probably benign Het
Chd3 T C 11: 69,260,045 (GRCm39) probably benign Het
Cmtm2b A G 8: 105,049,077 (GRCm39) S31G possibly damaging Het
CN725425 A G 15: 91,115,821 (GRCm39) K21R possibly damaging Het
Cngb1 T C 8: 95,997,516 (GRCm39) T560A probably benign Het
Creb3l3 T C 10: 80,926,977 (GRCm39) D151G probably damaging Het
Cts7 A T 13: 61,504,108 (GRCm39) V124E probably damaging Het
Ctsd G A 7: 141,930,590 (GRCm39) P349S possibly damaging Het
Ern1 A G 11: 106,302,478 (GRCm39) W459R probably damaging Het
Faxc A T 4: 21,982,672 (GRCm39) probably null Het
Gabbr1 T C 17: 37,365,084 (GRCm39) I239T probably damaging Het
Galnt12 T A 4: 47,122,529 (GRCm39) C269* probably null Het
Gmpr2 A T 14: 55,910,191 (GRCm39) D7V probably damaging Het
Hivep3 T A 4: 119,952,296 (GRCm39) I204N possibly damaging Het
Il16 A T 7: 83,312,270 (GRCm39) probably null Het
Jag1 T C 2: 136,936,394 (GRCm39) T367A probably benign Het
Mecom T C 3: 30,034,023 (GRCm39) E227G probably damaging Het
Muc5ac T A 7: 141,352,729 (GRCm39) C739S possibly damaging Het
Npy1r T A 8: 67,156,941 (GRCm39) C120* probably null Het
Nup153 A G 13: 46,854,502 (GRCm39) V530A probably damaging Het
Ogfr T A 2: 180,237,221 (GRCm39) L602Q possibly damaging Het
Or10g7 C T 9: 39,905,603 (GRCm39) P166S possibly damaging Het
Or10h5 C T 17: 33,434,508 (GRCm39) G270E probably benign Het
Or7e178 A C 9: 20,225,576 (GRCm39) D213E probably benign Het
Perm1 G T 4: 156,302,776 (GRCm39) R440L probably benign Het
Plcb4 T C 2: 135,752,157 (GRCm39) V121A probably benign Het
Plxna4 C T 6: 32,177,794 (GRCm39) V1036M probably benign Het
Ppl A T 16: 4,925,333 (GRCm39) M102K probably damaging Het
Prop1 T C 11: 50,844,213 (GRCm39) S7G probably benign Het
Rabggta A G 14: 55,954,660 (GRCm39) L507P probably damaging Het
Sfmbt2 A G 2: 10,547,836 (GRCm39) T473A probably damaging Het
Spc25 A C 2: 69,027,517 (GRCm39) M125R possibly damaging Het
Taok3 T C 5: 117,393,928 (GRCm39) M567T probably benign Het
Tlr3 A G 8: 45,851,917 (GRCm39) Y327H probably benign Het
Tmem209 A G 6: 30,497,174 (GRCm39) F339L probably benign Het
U2surp T C 9: 95,373,157 (GRCm39) N279S probably damaging Het
Ythdf3 G A 3: 16,258,025 (GRCm39) M61I possibly damaging Het
Zfp647 T C 15: 76,796,076 (GRCm39) I195V probably benign Het
Other mutations in Lefty2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03181:Lefty2 APN 1 180,725,115 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- ACTCTAGGTAGGGGATGCTG -3'
(R):5'- TACCCGTAGTCCTTGAGGTC -3'

Sequencing Primer
(F):5'- AGGGGATGCTGCTGGATGC -3'
(R):5'- TAGTCCTTGAGGTCCAGCG -3'
Posted On 2018-08-01