Incidental Mutation 'IGL01407:Lrrn2'
ID 79852
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 # IGL01407
Quality Score
Status
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132864965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 10 (L10P)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably damaging
Transcript: ENSMUST00000027706
AA Change: L10P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: L10P

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,076,288 (GRCm39) D1140V probably damaging Het
Ak1 G T 2: 32,523,507 (GRCm39) probably benign Het
Ano1 A T 7: 144,190,848 (GRCm39) L411H probably benign Het
Atad2 A T 15: 57,967,921 (GRCm39) N569K probably benign Het
Bst2 C A 8: 71,989,830 (GRCm39) R81L probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Chrna5 C T 9: 54,911,683 (GRCm39) T57M possibly damaging Het
Cp A T 3: 20,031,369 (GRCm39) D602V possibly damaging Het
Drd2 T C 9: 49,312,115 (GRCm39) I156T probably damaging Het
Elp4 G A 2: 105,622,653 (GRCm39) R349W probably damaging Het
Eml6 G A 11: 29,705,021 (GRCm39) R1508* probably null Het
Etl4 T C 2: 20,748,667 (GRCm39) L335S probably damaging Het
Fat3 A T 9: 16,289,319 (GRCm39) I68K probably benign Het
Fyco1 G T 9: 123,657,944 (GRCm39) A744D probably damaging Het
Gm22165 G T 3: 64,012,886 (GRCm39) probably benign Het
Gse1 T C 8: 121,280,326 (GRCm39) M1T probably null Het
Hs3st5 A T 10: 36,709,404 (GRCm39) H313L probably damaging Het
Hsd17b3 T C 13: 64,210,719 (GRCm39) Y212C probably damaging Het
Hyal5 G T 6: 24,876,406 (GRCm39) S93I probably benign Het
Itgb1 T C 8: 129,449,315 (GRCm39) V578A probably benign Het
Klf12 A T 14: 100,347,294 (GRCm39) N12K possibly damaging Het
Krt40 C T 11: 99,432,045 (GRCm39) C222Y probably damaging Het
Lrsam1 T C 2: 32,837,915 (GRCm39) Y213C probably damaging Het
Mitf C A 6: 97,994,892 (GRCm39) T277K possibly damaging Het
Ncan C T 8: 70,554,607 (GRCm39) R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 (GRCm39) E578G probably benign Het
Patj A G 4: 98,301,287 (GRCm39) T191A possibly damaging Het
Pign A G 1: 105,517,027 (GRCm39) V533A probably benign Het
Smad5 G A 13: 56,883,630 (GRCm39) V339I probably benign Het
Spem2 T A 11: 69,708,065 (GRCm39) Y300F possibly damaging Het
Trank1 T G 9: 111,193,790 (GRCm39) S605A probably damaging Het
Treml4 T A 17: 48,571,877 (GRCm39) D93E possibly damaging Het
Tsc22d2 T A 3: 58,323,924 (GRCm39) V272E probably damaging Het
Vmn2r19 T A 6: 123,306,826 (GRCm39) F445I possibly damaging Het
Zfp712 T A 13: 67,190,230 (GRCm39) Q99L possibly damaging Het
Zfp719 A T 7: 43,233,611 (GRCm39) K10I probably benign Het
Other mutations in Lrrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Lrrn2 APN 1 132,866,096 (GRCm39) missense possibly damaging 0.89
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