Incidental Mutation 'R2087:Lrrn2'
ID 231498
Institutional Source Beutler Lab
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
MMRRC Submission 040092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2087 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 132865489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 185 (F185V)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably damaging
Transcript: ENSMUST00000027706
AA Change: F185V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: F185V

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
Meta Mutation Damage Score 0.8648 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 95% (57/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T A 19: 24,042,364 (GRCm39) noncoding transcript Het
Adamts8 G A 9: 30,873,408 (GRCm39) R871Q probably damaging Het
Ank1 T C 8: 23,583,827 (GRCm39) L310S probably damaging Het
Atp2a3 A G 11: 72,871,274 (GRCm39) T592A probably damaging Het
Bpifb6 A G 2: 153,747,998 (GRCm39) D219G possibly damaging Het
Catsper4 T C 4: 133,953,916 (GRCm39) N81S probably damaging Het
Ccdc14 T C 16: 34,516,015 (GRCm39) probably null Het
Ces1c A C 8: 93,834,230 (GRCm39) N353K probably benign Het
Chrna6 T A 8: 27,897,155 (GRCm39) M241L probably benign Het
Chtf8 T A 8: 107,612,568 (GRCm39) R124* probably null Het
Cpt1b A G 15: 89,306,411 (GRCm39) V296A probably benign Het
Cryl1 G A 14: 57,513,402 (GRCm39) S273L possibly damaging Het
Ctps1 T C 4: 120,420,012 (GRCm39) D134G probably benign Het
Cyp4f18 T C 8: 72,754,832 (GRCm39) M138V probably benign Het
Dnajb12 A G 10: 59,726,667 (GRCm39) K107R possibly damaging Het
Epha1 C T 6: 42,340,502 (GRCm39) D590N probably benign Het
Fndc3b A G 3: 27,505,703 (GRCm39) V855A probably benign Het
Ganc A G 2: 120,287,738 (GRCm39) Y822C probably damaging Het
Hook2 A G 8: 85,729,320 (GRCm39) D622G probably damaging Het
Kcnj8 T A 6: 142,511,422 (GRCm39) N395I probably benign Het
Kdm4b T C 17: 56,696,564 (GRCm39) S427P possibly damaging Het
Krt12 A G 11: 99,309,459 (GRCm39) F267S probably damaging Het
Mecom A G 3: 30,006,963 (GRCm39) S764P probably benign Het
Mfsd14b C G 13: 65,215,796 (GRCm39) G386R probably damaging Het
Mrm2 A G 5: 140,314,155 (GRCm39) S227P probably damaging Het
Mug1 A G 6: 121,833,250 (GRCm39) N285S probably benign Het
Nalcn T C 14: 123,518,557 (GRCm39) T1661A probably benign Het
Ncoa6 G A 2: 155,248,079 (GRCm39) R1742* probably null Het
Nln T A 13: 104,173,877 (GRCm39) H548L probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or2r3 A T 6: 42,448,985 (GRCm39) N42K probably damaging Het
Or56b34 T A 7: 104,937,393 (GRCm39) I31N probably benign Het
Pgm5 T C 19: 24,710,927 (GRCm39) Y425C probably damaging Het
Pld2 A G 11: 70,433,786 (GRCm39) D242G probably damaging Het
Plekhm1 A G 11: 103,287,851 (GRCm39) probably null Het
Ptdss1 T C 13: 67,124,881 (GRCm39) probably benign Het
Pyroxd2 G T 19: 42,722,209 (GRCm39) L415I probably benign Het
Rapgef6 A G 11: 54,522,075 (GRCm39) T291A probably damaging Het
Rb1 A G 14: 73,517,692 (GRCm39) I238T probably benign Het
Rp1 G A 1: 4,418,575 (GRCm39) H846Y probably damaging Het
Rpgrip1 T A 14: 52,374,079 (GRCm39) probably null Het
Scaf4 T C 16: 90,049,313 (GRCm39) D258G unknown Het
Ska1 A T 18: 74,339,920 (GRCm39) C9S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc43a1 G A 2: 84,680,175 (GRCm39) R107Q probably damaging Het
Slc44a3 T A 3: 121,319,319 (GRCm39) N141Y probably damaging Het
Slit1 A T 19: 41,625,922 (GRCm39) D613E probably benign Het
Spata22 A T 11: 73,231,079 (GRCm39) Y111F probably benign Het
Tchh C A 3: 93,351,225 (GRCm39) R222S unknown Het
Tekt3 A G 11: 62,985,523 (GRCm39) D443G possibly damaging Het
Tns2 A T 15: 102,015,554 (GRCm39) Q144L possibly damaging Het
Troap T C 15: 98,976,698 (GRCm39) V274A possibly damaging Het
Ugt1a8 A G 1: 88,015,995 (GRCm39) Y136C probably damaging Het
Vmn2r23 A T 6: 123,718,458 (GRCm39) M604L probably benign Het
Vps13b T A 15: 35,597,639 (GRCm39) W1060R probably damaging Het
Wdfy3 A G 5: 102,042,926 (GRCm39) S1942P probably damaging Het
Wdr90 G A 17: 26,065,577 (GRCm39) T1596I probably damaging Het
Zc3h4 A G 7: 16,150,865 (GRCm39) E69G possibly damaging Het
Other mutations in Lrrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Lrrn2 APN 1 132,866,096 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- AGACTGCGATTTCCAAGCCC -3'
(R):5'- AGAGACTCTCCAGGCTTTGC -3'

Sequencing Primer
(F):5'- GCTGCTGAGCCTACATCTAGAAG -3'
(R):5'- GCTTTGCAGTCCCTCCAGAG -3'
Posted On 2014-09-18