Incidental Mutation 'IGL01387:Lrrn2'
ID 79072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01387
Quality Score
Status
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132866096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 387 (V387A)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
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: 79,835,596 (GRCm39) I288T possibly damaging Het
Akr1c13 T A 13: 4,247,794 (GRCm39) probably null Het
Ano2 T C 6: 125,990,240 (GRCm39) L787P probably damaging Het
Arf4 A T 14: 26,374,300 (GRCm39) I73F possibly damaging Het
Atp6v1e1 A G 6: 120,772,732 (GRCm39) probably null Het
Ccdc9 A C 7: 16,018,424 (GRCm39) M1R probably null Het
Cep162 A G 9: 87,093,864 (GRCm39) L838S probably benign Het
Cfap251 T A 5: 123,421,609 (GRCm39) I654N probably damaging Het
Cfi T A 3: 129,668,562 (GRCm39) probably benign Het
Creb3l3 T C 10: 80,927,110 (GRCm39) T107A probably benign Het
Erlin2 T C 8: 27,526,576 (GRCm39) L312P probably benign Het
Etv1 T G 12: 38,911,326 (GRCm39) M384R probably damaging Het
Exph5 G T 9: 53,285,265 (GRCm39) S782I possibly damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Fsip2 A G 2: 82,823,326 (GRCm39) N6353S possibly damaging Het
Gk5 T C 9: 96,059,607 (GRCm39) probably null Het
Gm11168 T G 9: 3,005,128 (GRCm39) S202R possibly damaging Het
Hdlbp T C 1: 93,341,310 (GRCm39) D1016G possibly damaging Het
Kpna4 A G 3: 69,009,590 (GRCm39) probably benign Het
Or4a76 T A 2: 89,460,964 (GRCm39) R93* probably null Het
Or5bw2 A G 7: 6,573,854 (GRCm39) Y288C probably damaging Het
Or6c33 T A 10: 129,853,710 (GRCm39) M160K probably damaging Het
Or8g23 A G 9: 38,971,617 (GRCm39) L115S probably damaging Het
Or8k37 T C 2: 86,469,594 (GRCm39) T153A probably benign Het
Plekhs1 A G 19: 56,459,403 (GRCm39) Q51R probably benign Het
Rab27b T A 18: 70,118,380 (GRCm39) D179V possibly damaging Het
Rprd2 C T 3: 95,672,631 (GRCm39) R924H probably benign Het
Shprh T C 10: 11,045,998 (GRCm39) I905T probably damaging Het
Trpm8 T C 1: 88,271,009 (GRCm39) L433P probably damaging Het
Urb1 A G 16: 90,554,649 (GRCm39) L1861S possibly damaging Het
Vmn2r124 C A 17: 18,283,188 (GRCm39) T294K probably damaging Het
Znrf3 A T 11: 5,288,656 (GRCm39) C37* probably null Het
Other mutations in Lrrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Lrrn2 APN 1 132,864,965 (GRCm39) missense probably damaging 1.00
IGL01636:Lrrn2 APN 1 132,864,959 (GRCm39) missense possibly damaging 0.95
IGL02134:Lrrn2 APN 1 132,865,555 (GRCm39) missense possibly damaging 0.69
IGL02142:Lrrn2 APN 1 132,866,983 (GRCm39) missense possibly damaging 0.86
IGL03240:Lrrn2 APN 1 132,866,065 (GRCm39) missense possibly damaging 0.53
R0226:Lrrn2 UTSW 1 132,865,558 (GRCm39) missense probably damaging 1.00
R0612:Lrrn2 UTSW 1 132,865,466 (GRCm39) missense probably damaging 1.00
R1185:Lrrn2 UTSW 1 132,866,959 (GRCm39) missense probably benign 0.00
R1185:Lrrn2 UTSW 1 132,866,959 (GRCm39) missense probably benign 0.00
R1185:Lrrn2 UTSW 1 132,866,959 (GRCm39) missense probably benign 0.00
R1969:Lrrn2 UTSW 1 132,866,972 (GRCm39) missense probably benign 0.00
R2087:Lrrn2 UTSW 1 132,865,489 (GRCm39) missense probably damaging 1.00
R3923:Lrrn2 UTSW 1 132,866,230 (GRCm39) missense probably benign 0.45
R4006:Lrrn2 UTSW 1 132,865,478 (GRCm39) missense probably damaging 1.00
R4022:Lrrn2 UTSW 1 132,866,852 (GRCm39) missense probably benign
R4091:Lrrn2 UTSW 1 132,865,390 (GRCm39) nonsense probably null
R4092:Lrrn2 UTSW 1 132,865,390 (GRCm39) nonsense probably null
R4719:Lrrn2 UTSW 1 132,866,915 (GRCm39) missense probably benign
R5285:Lrrn2 UTSW 1 132,866,983 (GRCm39) missense possibly damaging 0.86
R5681:Lrrn2 UTSW 1 132,864,899 (GRCm39) start gained probably benign
R5791:Lrrn2 UTSW 1 132,865,505 (GRCm39) missense probably benign 0.00
R5916:Lrrn2 UTSW 1 132,865,538 (GRCm39) missense probably damaging 1.00
R6646:Lrrn2 UTSW 1 132,866,794 (GRCm39) missense probably benign
R7021:Lrrn2 UTSW 1 132,866,522 (GRCm39) missense probably damaging 1.00
R7686:Lrrn2 UTSW 1 132,866,332 (GRCm39) missense probably benign 0.04
R7811:Lrrn2 UTSW 1 132,866,939 (GRCm39) missense probably benign
R7869:Lrrn2 UTSW 1 132,867,116 (GRCm39) missense unknown
R8004:Lrrn2 UTSW 1 132,865,489 (GRCm39) missense probably damaging 1.00
R8195:Lrrn2 UTSW 1 132,865,082 (GRCm39) missense probably damaging 1.00
R8815:Lrrn2 UTSW 1 132,866,831 (GRCm39) missense possibly damaging 0.87
R8948:Lrrn2 UTSW 1 132,866,104 (GRCm39) missense probably benign 0.39
R9244:Lrrn2 UTSW 1 132,865,237 (GRCm39) missense probably damaging 1.00
R9244:Lrrn2 UTSW 1 132,865,058 (GRCm39) missense probably damaging 1.00
R9325:Lrrn2 UTSW 1 132,865,241 (GRCm39) missense probably damaging 1.00
Z1177:Lrrn2 UTSW 1 132,866,716 (GRCm39) missense probably benign 0.00
Z1177:Lrrn2 UTSW 1 132,865,636 (GRCm39) nonsense probably null
Posted On 2013-11-05