Incidental Mutation 'R6074:Lgi2'
ID 482631
Institutional Source Beutler Lab
Gene Symbol Lgi2
Ensembl Gene ENSMUSG00000039252
Gene Name leucine-rich repeat LGI family, member 2
Synonyms
MMRRC Submission 044235-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6074 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 52690859-52723689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52703984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 216 (F216I)
Ref Sequence ENSEMBL: ENSMUSP00000040436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039750] [ENSMUST00000199942]
AlphaFold Q8K4Z0
Predicted Effect probably benign
Transcript: ENSMUST00000039750
AA Change: F216I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
AA Change: F216I

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 probably benign
Transcript: ENSMUST00000199942
SMART Domains Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo1 T A 3: 108,099,009 (GRCm39) C189* probably null Het
Auts2 G T 5: 131,505,828 (GRCm39) probably benign Het
Cadps2 C A 6: 23,626,670 (GRCm39) W177L probably damaging Het
Camk2b G T 11: 5,939,635 (GRCm39) P223Q probably damaging Het
Ccdc74a C A 16: 17,464,591 (GRCm39) S9* probably null Het
Ccnt1 A C 15: 98,441,205 (GRCm39) Y688D probably damaging Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ceacam3 C T 7: 16,885,484 (GRCm39) T29I probably benign Het
Cep170b T C 12: 112,710,589 (GRCm39) S1473P probably damaging Het
Col19a1 T A 1: 24,565,564 (GRCm39) T256S unknown Het
Eif2d T A 1: 131,094,079 (GRCm39) D423E probably damaging Het
Fam13a A G 6: 58,966,723 (GRCm39) probably null Het
Gaa G A 11: 119,175,012 (GRCm39) R871H probably benign Het
Galnt12 T A 4: 47,112,405 (GRCm39) V37D probably damaging Het
Glp2r A G 11: 67,637,640 (GRCm39) S13P unknown Het
Gnptab C T 10: 88,268,940 (GRCm39) L548F probably damaging Het
Heg1 C T 16: 33,547,573 (GRCm39) P787S possibly damaging Het
Hivep2 T A 10: 14,007,485 (GRCm39) M1361K probably benign Het
Hivep3 T C 4: 119,954,891 (GRCm39) I1069T possibly damaging Het
Hspg2 A G 4: 137,268,046 (GRCm39) D2121G probably benign Het
Htatip2 A G 7: 49,422,322 (GRCm39) probably null Het
Ighv1-75 T C 12: 115,798,007 (GRCm39) S4G probably benign Het
Ip6k1 A G 9: 107,901,308 (GRCm39) probably benign Het
Kcna6 A G 6: 126,716,242 (GRCm39) S216P probably benign Het
Kif21a T A 15: 90,865,095 (GRCm39) T526S probably benign Het
Kng2 C T 16: 22,819,346 (GRCm39) G230D probably benign Het
Lratd1 G A 12: 14,200,512 (GRCm39) H72Y probably benign Het
Lss T A 10: 76,379,693 (GRCm39) N383K probably damaging Het
Mical1 T C 10: 41,362,061 (GRCm39) M929T probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nat8f4 A G 6: 85,878,169 (GRCm39) V118A probably damaging Het
Or10j5 T A 1: 172,784,945 (GRCm39) N194K probably benign Het
Or4p23 A C 2: 88,576,566 (GRCm39) L222R probably damaging Het
Or6b2 G A 1: 92,407,497 (GRCm39) T282M probably benign Het
Osbpl11 T A 16: 33,030,335 (GRCm39) S188T probably benign Het
Pea15a C T 1: 172,026,752 (GRCm39) R85H possibly damaging Het
Ppp1r13b A G 12: 111,798,836 (GRCm39) I919T probably damaging Het
Rasgrf1 A G 9: 89,835,968 (GRCm39) D232G probably benign Het
Rp1 A G 1: 4,415,602 (GRCm39) S1837P probably benign Het
Samd5 T A 10: 9,550,334 (GRCm39) Y125F possibly damaging Het
Skint5 T C 4: 113,662,397 (GRCm39) T597A unknown Het
Slc25a12 A G 2: 71,106,798 (GRCm39) F605L probably benign Het
Slc39a12 C T 2: 14,412,290 (GRCm39) Q321* probably null Het
Slc6a19 T C 13: 73,837,882 (GRCm39) S206G probably benign Het
Tacc2 T A 7: 130,227,165 (GRCm39) H1283Q possibly damaging Het
Thumpd3 A G 6: 113,036,971 (GRCm39) E290G possibly damaging Het
Timd2 C T 11: 46,577,999 (GRCm39) G44D possibly damaging Het
Tmem74 A G 15: 43,730,134 (GRCm39) V303A possibly damaging Het
Tpo A G 12: 30,128,186 (GRCm39) V785A probably benign Het
Tpra1 T A 6: 88,888,919 (GRCm39) I367N possibly damaging Het
Txnrd2 T C 16: 18,256,297 (GRCm39) I95T probably damaging Het
Usp32 A G 11: 84,885,399 (GRCm39) V1216A probably benign Het
Usp54 C A 14: 20,602,167 (GRCm39) M1394I probably benign Het
Vmn2r13 A G 5: 109,322,167 (GRCm39) F177L probably benign Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Wdfy4 C T 14: 32,805,596 (GRCm39) probably null Het
Wnk2 A T 13: 49,204,875 (GRCm39) C458S probably damaging Het
Xkr6 T G 14: 63,844,519 (GRCm39) F181V possibly damaging Het
Zfp212 T A 6: 47,903,986 (GRCm39) C149* probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp661 A G 2: 127,419,793 (GRCm39) S116P probably benign Het
Zfp770 A G 2: 114,026,870 (GRCm39) Y400H possibly damaging 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
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
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'- CTCCGGAAATTCATTTCTATGTGGTC -3'
(R):5'- TTCTGAAAGCCAGGTCTGCC -3'

Posted On 2017-07-14