Incidental Mutation 'R0026:Lgsn'
ID 64487
Institutional Source Beutler Lab
Gene Symbol Lgsn
Ensembl Gene ENSMUSG00000050217
Gene Name lengsin, lens protein with glutamine synthetase domain
Synonyms Gluld1, Lgs, lengsin
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R0026 (G1)
Quality Score 135
Status Validated
Chromosome 1
Chromosomal Location 31215482-31243806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31242524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 202 (V202D)
Ref Sequence ENSEMBL: ENSMUSP00000059871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062560] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]
AlphaFold Q8CIX8
PDB Structure Lengsin is a survivor of an ancient family of class I glutamine synthetases in eukaryotes that has undergone evolutionary re- engineering for a tissue-specific role in the vertebrate eye lens. [ELECTRON MICROSCOPY]
Predicted Effect probably damaging
Transcript: ENSMUST00000062560
AA Change: V202D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059871
Gene: ENSMUSG00000050217
AA Change: V202D

SCOP:d1f52a1 128 233 2e-20 SMART
Gln-synt_C 235 481 1.67e-39 SMART
low complexity region 483 496 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127775
SMART Domains Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727

low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135245
SMART Domains Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727

low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161773
Predicted Effect probably benign
Transcript: ENSMUST00000187659
SMART Domains Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727

low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187892
Meta Mutation Damage Score 0.6490 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,566 (GRCm39) I585N possibly damaging Het
A830005F24Rik C T 13: 48,667,848 (GRCm39) probably benign Het
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Adam19 G T 11: 46,027,086 (GRCm39) C573F probably damaging Het
Aff3 A G 1: 38,242,974 (GRCm39) S948P probably benign Het
Anxa3 T A 5: 96,986,260 (GRCm39) Y300N probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Cdc16 T A 8: 13,809,130 (GRCm39) probably null Het
Cep135 C T 5: 76,754,581 (GRCm39) R353* probably null Het
Cma1 A T 14: 56,179,621 (GRCm39) C188S probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dbn1 T C 13: 55,625,597 (GRCm39) E275G probably damaging Het
Dlgap2 C T 8: 14,777,363 (GRCm39) Q203* probably null Het
Ephb3 A G 16: 21,033,667 (GRCm39) D251G probably damaging Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Gm10801 T C 2: 98,494,254 (GRCm39) probably benign Het
Got1l1 C T 8: 27,690,276 (GRCm39) V132I probably benign Het
H2-M9 T C 17: 36,952,419 (GRCm39) probably benign Het
Ibtk A G 9: 85,572,356 (GRCm39) V1278A probably benign Het
Kctd3 T C 1: 188,708,818 (GRCm39) T519A probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Map1s G A 8: 71,367,282 (GRCm39) G729D probably damaging Het
Mlycd A G 8: 120,137,174 (GRCm39) I465V probably benign Het
Mrgprb1 T C 7: 48,096,952 (GRCm39) R108G possibly damaging Het
Mrgprx2 T A 7: 48,131,771 (GRCm39) H106L possibly damaging Het
Ncor1 T C 11: 62,329,255 (GRCm39) Y6C probably damaging Het
Nfkb1 T C 3: 135,297,334 (GRCm39) D773G probably damaging Het
Nxnl1 A G 8: 72,019,217 (GRCm39) S3P probably damaging Het
Or12d17 T A 17: 37,777,694 (GRCm39) V199D probably damaging Het
Or8b54 G A 9: 38,686,892 (GRCm39) V114I probably benign Het
Otud7a T C 7: 63,385,549 (GRCm39) F338L probably benign Het
Pdcl3 T A 1: 39,030,361 (GRCm39) L14Q probably damaging Het
Pla2g7 T A 17: 43,905,821 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Rapgef5 T C 12: 117,652,896 (GRCm39) S307P probably benign Het
Relt C A 7: 100,499,428 (GRCm39) E164* probably null Het
Rnf185 T C 11: 3,376,617 (GRCm39) D86G probably damaging Het
Rrm2b T C 15: 37,953,985 (GRCm39) E21G probably benign Het
Scn5a A G 9: 119,351,632 (GRCm39) I783T probably damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Skint5 A T 4: 113,403,665 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,281,468 (GRCm39) S294P probably benign Het
Slc5a2 T A 7: 127,869,225 (GRCm39) I335N probably damaging Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Sstr1 T A 12: 58,259,644 (GRCm39) M89K probably damaging Het
Szt2 A T 4: 118,241,969 (GRCm39) S1612R possibly damaging Het
Taf1c T C 8: 120,330,975 (GRCm39) probably null Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Tmem125 A G 4: 118,399,270 (GRCm39) S54P possibly damaging Het
Ttf1 T A 2: 28,961,361 (GRCm39) I583N possibly damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Unc5b A T 10: 60,610,371 (GRCm39) I482N possibly damaging Het
Unc80 C A 1: 66,560,743 (GRCm39) Q824K probably benign Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vmn2r61 T G 7: 41,924,898 (GRCm39) I484R possibly damaging Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null Het
Other mutations in Lgsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Lgsn APN 1 31,242,647 (GRCm39) missense possibly damaging 0.75
IGL01347:Lgsn APN 1 31,243,041 (GRCm39) missense probably damaging 1.00
IGL01688:Lgsn APN 1 31,243,486 (GRCm39) missense probably damaging 1.00
IGL02937:Lgsn APN 1 31,243,318 (GRCm39) missense possibly damaging 0.63
IGL03056:Lgsn APN 1 31,242,705 (GRCm39) nonsense probably null
R0026:Lgsn UTSW 1 31,242,524 (GRCm39) missense probably damaging 0.99
R0042:Lgsn UTSW 1 31,229,534 (GRCm39) missense probably benign
R0042:Lgsn UTSW 1 31,229,534 (GRCm39) missense probably benign
R0611:Lgsn UTSW 1 31,242,736 (GRCm39) missense probably benign 0.01
R0905:Lgsn UTSW 1 31,242,824 (GRCm39) missense probably damaging 0.99
R2248:Lgsn UTSW 1 31,242,607 (GRCm39) missense possibly damaging 0.71
R3883:Lgsn UTSW 1 31,215,540 (GRCm39) missense probably benign 0.00
R4782:Lgsn UTSW 1 31,242,823 (GRCm39) missense probably benign 0.44
R5560:Lgsn UTSW 1 31,235,953 (GRCm39) missense probably damaging 1.00
R6011:Lgsn UTSW 1 31,242,847 (GRCm39) missense probably damaging 1.00
R6998:Lgsn UTSW 1 31,243,274 (GRCm39) missense probably benign 0.20
R7003:Lgsn UTSW 1 31,243,024 (GRCm39) missense possibly damaging 0.46
R7007:Lgsn UTSW 1 31,229,508 (GRCm39) missense probably benign 0.00
R7282:Lgsn UTSW 1 31,242,452 (GRCm39) missense probably damaging 1.00
R7620:Lgsn UTSW 1 31,242,461 (GRCm39) missense probably benign 0.00
R8082:Lgsn UTSW 1 31,243,273 (GRCm39) missense probably benign 0.17
R8220:Lgsn UTSW 1 31,235,881 (GRCm39) missense probably benign 0.00
R8467:Lgsn UTSW 1 31,242,731 (GRCm39) missense probably benign 0.45
R9312:Lgsn UTSW 1 31,243,280 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-08-06