Incidental Mutation 'IGL01387:Lrrn2'
ID79072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Nameleucine rich repeat protein 2, neuronal
SynonymsNLRR-2, 5730406J09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01387
Quality Score
Status
Chromosome1
Chromosomal Location132880273-132940005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132938358 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 387 (V387A)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027706
AA Change: V387A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: V387A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 28 73 2.22e-2 SMART
LRR 92 115 3.86e0 SMART
LRR 116 139 1.08e-1 SMART
LRR_TYP 140 163 3.21e-4 SMART
LRR 164 187 1.33e-1 SMART
LRR 188 211 5.89e1 SMART
LRR 212 235 1.66e1 SMART
LRR 236 259 4.98e-1 SMART
LRR 260 283 5.26e0 SMART
LRR 309 333 5.56e0 SMART
LRR 334 357 2.17e-1 SMART
LRRCT 369 421 3.13e-3 SMART
IGc2 436 504 9.99e-13 SMART
FN3 525 607 3.49e0 SMART
transmembrane domain 629 651 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159088
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,999,762 I288T possibly damaging Het
Akr1c13 T A 13: 4,197,795 probably null Het
Ano2 T C 6: 126,013,277 L787P probably damaging Het
Arf4 A T 14: 26,653,145 I73F possibly damaging Het
Atp6v1e1 A G 6: 120,795,771 probably null Het
Ccdc9 A C 7: 16,284,499 M1R probably null Het
Cep162 A G 9: 87,211,811 L838S probably benign Het
Cfi T A 3: 129,874,913 probably benign Het
Creb3l3 T C 10: 81,091,276 T107A probably benign Het
Erlin2 T C 8: 27,036,548 L312P probably benign Het
Etv1 T G 12: 38,861,327 M384R probably damaging Het
Exph5 G T 9: 53,373,965 S782I possibly damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Fsip2 A G 2: 82,992,982 N6353S possibly damaging Het
Gk5 T C 9: 96,177,554 probably null Het
Gm11168 T G 9: 3,005,128 S202R possibly damaging Het
Hdlbp T C 1: 93,413,588 D1016G possibly damaging Het
Kpna4 A G 3: 69,102,257 probably benign Het
Olfr1084 T C 2: 86,639,250 T153A probably benign Het
Olfr1249 T A 2: 89,630,620 R93* probably null Het
Olfr1350 A G 7: 6,570,855 Y288C probably damaging Het
Olfr820 T A 10: 130,017,841 M160K probably damaging Het
Olfr937 A G 9: 39,060,321 L115S probably damaging Het
Plekhs1 A G 19: 56,470,971 Q51R probably benign Het
Rab27b T A 18: 69,985,309 D179V possibly damaging Het
Rprd2 C T 3: 95,765,319 R924H probably benign Het
Shprh T C 10: 11,170,254 I905T probably damaging Het
Trpm8 T C 1: 88,343,287 L433P probably damaging Het
Urb1 A G 16: 90,757,761 L1861S possibly damaging Het
Vmn2r124 C A 17: 18,062,926 T294K probably damaging Het
Wdr66 T A 5: 123,283,546 I654N probably damaging Het
Znrf3 A T 11: 5,338,656 C37* probably null Het
Other mutations in Lrrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Lrrn2 APN 1 132937227 missense probably damaging 1.00
IGL01636:Lrrn2 APN 1 132937221 missense possibly damaging 0.95
IGL02134:Lrrn2 APN 1 132937817 missense possibly damaging 0.69
IGL02142:Lrrn2 APN 1 132939245 missense possibly damaging 0.86
IGL03240:Lrrn2 APN 1 132938327 missense possibly damaging 0.53
R0226:Lrrn2 UTSW 1 132937820 missense probably damaging 1.00
R0612:Lrrn2 UTSW 1 132937728 missense probably damaging 1.00
R1185:Lrrn2 UTSW 1 132939221 missense probably benign 0.00
R1185:Lrrn2 UTSW 1 132939221 missense probably benign 0.00
R1185:Lrrn2 UTSW 1 132939221 missense probably benign 0.00
R1969:Lrrn2 UTSW 1 132939234 missense probably benign 0.00
R2087:Lrrn2 UTSW 1 132937751 missense probably damaging 1.00
R3923:Lrrn2 UTSW 1 132938492 missense probably benign 0.45
R4006:Lrrn2 UTSW 1 132937740 missense probably damaging 1.00
R4022:Lrrn2 UTSW 1 132939114 missense probably benign
R4091:Lrrn2 UTSW 1 132937652 nonsense probably null
R4092:Lrrn2 UTSW 1 132937652 nonsense probably null
R4719:Lrrn2 UTSW 1 132939177 missense probably benign
R5285:Lrrn2 UTSW 1 132939245 missense possibly damaging 0.86
R5681:Lrrn2 UTSW 1 132937161 start gained probably benign
R5791:Lrrn2 UTSW 1 132937767 missense probably benign 0.00
R5916:Lrrn2 UTSW 1 132937800 missense probably damaging 1.00
R6646:Lrrn2 UTSW 1 132939056 missense probably benign
R7021:Lrrn2 UTSW 1 132938784 missense probably damaging 1.00
R7686:Lrrn2 UTSW 1 132938594 missense probably benign 0.04
R7811:Lrrn2 UTSW 1 132939201 missense probably benign
R7869:Lrrn2 UTSW 1 132939378 missense unknown
R8004:Lrrn2 UTSW 1 132937751 missense probably damaging 1.00
R8195:Lrrn2 UTSW 1 132937344 missense probably damaging 1.00
R8815:Lrrn2 UTSW 1 132939093 missense possibly damaging 0.87
Z1177:Lrrn2 UTSW 1 132937898 nonsense probably null
Z1177:Lrrn2 UTSW 1 132938978 missense probably benign 0.00
Posted On2013-11-05