Incidental Mutation 'R0602:Lgi2'
ID 55482
Institutional Source Beutler Lab
Gene Symbol Lgi2
Ensembl Gene ENSMUSG00000039252
Gene Name leucine-rich repeat LGI family, member 2
Synonyms
MMRRC Submission 038791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R0602 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 52690859-52723689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52711765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 185 (D185G)
Ref Sequence ENSEMBL: ENSMUSP00000040436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]
AlphaFold Q8K4Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000039750
AA Change: D185G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: D185G

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 possibly damaging
Transcript: ENSMUST00000199942
AA Change: D209G

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
AA Change: D209G

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
Meta Mutation Damage Score 0.1306 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.7%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,978,090 (GRCm39) probably benign Het
Arih1 A G 9: 59,302,154 (GRCm39) probably benign Het
Bcl9 T C 3: 97,113,102 (GRCm39) I1118V probably benign Het
Cap1 T C 4: 122,766,202 (GRCm39) E12G probably damaging Het
Ccdc168 T A 1: 44,099,127 (GRCm39) K657I possibly damaging Het
Ccr2 A G 9: 123,906,658 (GRCm39) I313V probably benign Het
Cd1d2 T C 3: 86,895,110 (GRCm39) S161P probably benign Het
Cd226 C T 18: 89,287,135 (GRCm39) T311I probably benign Het
Col25a1 A G 3: 130,369,063 (GRCm39) probably null Het
Cspg4 T C 9: 56,795,301 (GRCm39) F1012S probably damaging Het
Dnah7b A G 1: 46,364,002 (GRCm39) M3541V probably damaging Het
Erbb2 G A 11: 98,325,097 (GRCm39) V852M probably damaging Het
Fer1l6 A C 15: 58,449,794 (GRCm39) T667P probably damaging Het
Gal3st2c A G 1: 93,936,901 (GRCm39) Y282C probably damaging Het
Glp1r T C 17: 31,128,201 (GRCm39) L60P probably benign Het
Gtf2h2 A G 13: 100,605,533 (GRCm39) V358A probably benign Het
H2ac18 T C 3: 96,152,866 (GRCm39) probably benign Het
Hephl1 T A 9: 15,000,347 (GRCm39) I302F probably damaging Het
Lrtm1 T C 14: 28,744,179 (GRCm39) probably benign Het
Megf10 T G 18: 57,395,172 (GRCm39) D511E probably damaging Het
Myo5c A G 9: 75,173,478 (GRCm39) probably null Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Ola1 A G 2: 72,924,056 (GRCm39) Y368H probably damaging Het
Or52s1 A C 7: 102,861,787 (GRCm39) H229P possibly damaging Het
Or9i1b A G 19: 13,897,145 (GRCm39) T254A probably benign Het
Or9q2 T C 19: 13,772,026 (GRCm39) probably null Het
Panx1 A G 9: 14,921,500 (GRCm39) L125P probably damaging Het
Pappa2 A G 1: 158,590,625 (GRCm39) probably benign Het
Parp6 A G 9: 59,556,648 (GRCm39) probably benign Het
Pomgnt2 A G 9: 121,811,339 (GRCm39) Y481H probably benign Het
Ppp4c A G 7: 126,388,254 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,533 (GRCm39) probably benign Het
Prpf40b C A 15: 99,202,352 (GRCm39) A70E unknown Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Ptprc C T 1: 138,017,223 (GRCm39) probably benign Het
Rgs22 T C 15: 36,140,018 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,371,313 (GRCm39) E344G possibly damaging Het
Sgca A T 11: 94,854,061 (GRCm39) I383N possibly damaging Het
Sgms2 T A 3: 131,118,756 (GRCm39) probably null Het
Slc9b1 C A 3: 135,103,516 (GRCm39) Q549K probably benign Het
Smc4 G C 3: 68,916,871 (GRCm39) A187P probably damaging Het
Smco1 A G 16: 32,092,062 (GRCm39) S47G probably damaging Het
Sobp T A 10: 42,898,385 (GRCm39) E400V probably damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Stil T A 4: 114,881,620 (GRCm39) probably benign Het
Sult3a2 A T 10: 33,658,044 (GRCm39) M23K probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcof1 C A 18: 60,966,605 (GRCm39) G329W probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Vmn1r171 G T 7: 23,332,602 (GRCm39) V276L probably benign Het
Vps13b T C 15: 35,422,514 (GRCm39) L158P probably damaging Het
Vps54 A G 11: 21,256,434 (GRCm39) I634M possibly damaging Het
Vwa8 T G 14: 79,258,060 (GRCm39) S736R probably benign Het
Other mutations in Lgi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Lgi2 APN 5 52,695,463 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTGTTGAGATGTTCTCCGAACCCC -3'
(R):5'- accagccagtacaACTAACCAAAGC -3'

Sequencing Primer
(F):5'- tcacttctcaccttcaaccac -3'
(R):5'- ccagtacaACTAACCAAAGCACATC -3'
Posted On 2013-07-11