Incidental Mutation 'IGL00861:Lgi2'
ID 11750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgi2
Ensembl Gene ENSMUSG00000039252
Gene Name leucine-rich repeat LGI family, member 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00861
Quality Score
Status
Chromosome 5
Chromosomal Location 52690859-52723689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52695463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 491 (K491E)
Ref Sequence ENSEMBL: ENSMUSP00000143707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]
AlphaFold Q8K4Z0
Predicted Effect probably benign
Transcript: ENSMUST00000039750
AA Change: K499E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: K499E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:LRRNT 32 62 9e-15 BLAST
LRR_TYP 81 104 7.26e-3 SMART
LRR_TYP 105 128 4.72e-2 SMART
LRRCT 140 189 4.49e-4 SMART
Pfam:EPTP 224 265 3.9e-12 PFAM
Pfam:EPTP 270 311 2e-13 PFAM
Pfam:EPTP 316 362 2.1e-16 PFAM
Pfam:EPTP 365 407 2.3e-9 PFAM
Pfam:EPTP 412 454 4.8e-12 PFAM
Pfam:EPTP 457 498 2.7e-14 PFAM
low complexity region 499 509 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198876
Predicted Effect probably benign
Transcript: ENSMUST00000199942
AA Change: K491E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: K491E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:LRRNT 32 62 7e-15 BLAST
LRR_TYP 81 104 7.26e-3 SMART
LRR_TYP 105 128 4.72e-2 SMART
LRR_TYP 129 152 5.99e-4 SMART
LRRCT 164 213 4.49e-4 SMART
Pfam:EPTP 216 257 5.6e-12 PFAM
Pfam:EPTP 262 303 2.8e-13 PFAM
Pfam:EPTP 308 354 3e-16 PFAM
Pfam:EPTP 357 399 3.3e-9 PFAM
Pfam:EPTP 404 446 6.8e-12 PFAM
Pfam:EPTP 449 490 3.8e-14 PFAM
low complexity region 491 501 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,207,488 (GRCm39) probably benign Het
Ambra1 T A 2: 91,601,271 (GRCm39) D189E possibly damaging Het
Atg16l1 G A 1: 87,702,560 (GRCm39) G274S probably damaging Het
Cdh20 C A 1: 109,988,718 (GRCm39) probably benign Het
Chat T C 14: 32,170,980 (GRCm39) Y173C probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ctnnd1 T C 2: 84,434,096 (GRCm39) D874G probably damaging Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Depdc5 T C 5: 33,125,158 (GRCm39) probably null Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fut10 G T 8: 31,725,733 (GRCm39) V163F probably damaging Het
Glmn A T 5: 107,718,005 (GRCm39) M304K possibly damaging Het
Klra6 A G 6: 130,000,663 (GRCm39) V47A possibly damaging Het
Lrrc72 T A 12: 36,271,507 (GRCm39) Q138L probably benign Het
Nherf4 A G 9: 44,160,933 (GRCm39) L211P possibly damaging Het
Nxph2 T A 2: 23,289,974 (GRCm39) F109I probably damaging Het
Oosp3 A G 19: 11,689,004 (GRCm39) D84G probably benign Het
Poc1b C T 10: 98,965,514 (GRCm39) R106C probably benign Het
Ptk2 A G 15: 73,134,396 (GRCm39) S568P probably damaging Het
Slc4a5 A G 6: 83,276,453 (GRCm39) I1093V probably benign Het
Snx2 G A 18: 53,343,869 (GRCm39) probably null Het
Washc5 G T 15: 59,209,125 (GRCm39) T1033K probably damaging Het
Other mutations in Lgi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Lgi2 APN 5 52,711,807 (GRCm39) missense probably benign 0.44
IGL02086:Lgi2 APN 5 52,723,299 (GRCm39) missense probably damaging 0.96
IGL03091:Lgi2 APN 5 52,721,307 (GRCm39) critical splice donor site probably null
IGL03367:Lgi2 APN 5 52,719,502 (GRCm39) missense probably damaging 1.00
IGL03388:Lgi2 APN 5 52,695,819 (GRCm39) missense probably damaging 1.00
R0388:Lgi2 UTSW 5 52,711,891 (GRCm39) missense probably damaging 0.99
R0602:Lgi2 UTSW 5 52,711,765 (GRCm39) missense probably damaging 0.98
R0633:Lgi2 UTSW 5 52,711,802 (GRCm39) missense probably damaging 0.97
R1616:Lgi2 UTSW 5 52,703,980 (GRCm39) missense probably benign 0.00
R1916:Lgi2 UTSW 5 52,703,974 (GRCm39) missense probably benign
R2072:Lgi2 UTSW 5 52,695,847 (GRCm39) missense probably damaging 1.00
R2512:Lgi2 UTSW 5 52,695,307 (GRCm39) makesense probably null
R4614:Lgi2 UTSW 5 52,695,775 (GRCm39) missense probably damaging 0.99
R4855:Lgi2 UTSW 5 52,695,849 (GRCm39) missense probably damaging 1.00
R5092:Lgi2 UTSW 5 52,695,429 (GRCm39) missense probably damaging 1.00
R5181:Lgi2 UTSW 5 52,711,792 (GRCm39) missense probably damaging 1.00
R5311:Lgi2 UTSW 5 52,711,827 (GRCm39) missense probably damaging 0.99
R6074:Lgi2 UTSW 5 52,703,984 (GRCm39) missense probably benign
R7089:Lgi2 UTSW 5 52,695,832 (GRCm39) missense probably damaging 0.99
R7376:Lgi2 UTSW 5 52,695,604 (GRCm39) missense probably damaging 0.99
R7396:Lgi2 UTSW 5 52,695,753 (GRCm39) missense probably damaging 1.00
R7733:Lgi2 UTSW 5 52,695,873 (GRCm39) missense probably benign 0.03
R8007:Lgi2 UTSW 5 52,723,375 (GRCm39) missense probably benign 0.01
R8073:Lgi2 UTSW 5 52,704,013 (GRCm39) missense probably benign
R9137:Lgi2 UTSW 5 52,695,361 (GRCm39) missense probably damaging 1.00
R9484:Lgi2 UTSW 5 52,695,936 (GRCm39) missense probably benign 0.36
R9505:Lgi2 UTSW 5 52,711,775 (GRCm39) missense probably benign 0.00
R9723:Lgi2 UTSW 5 52,695,843 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06