Incidental Mutation 'R4022:Lrrn2'
ID 313274
Institutional Source Beutler Lab
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
MMRRC Submission 040956-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4022 (G1)
Quality Score 187
Status Validated
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132866852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 639 (V639A)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably benign
Transcript: ENSMUST00000027706
AA Change: V639A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: V639A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194934
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,733,812 (GRCm39) Y131F probably damaging Het
Adcy4 C T 14: 56,012,635 (GRCm39) probably null Het
Ago3 T A 4: 126,262,386 (GRCm39) N388I probably benign Het
Arfgef2 G T 2: 166,715,865 (GRCm39) V1385L probably benign Het
Camk2a A T 18: 61,097,000 (GRCm39) K28* probably null Het
Ccdc180 T A 4: 45,904,560 (GRCm39) Y385* probably null Het
Cd209g A T 8: 4,185,955 (GRCm39) Q46L possibly damaging Het
Cdh22 T C 2: 164,999,173 (GRCm39) T220A probably benign Het
Cltc A T 11: 86,611,174 (GRCm39) C562S probably damaging Het
Cyp2c55 T A 19: 39,023,878 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Ddias G T 7: 92,510,686 (GRCm39) D105E possibly damaging Het
Dhx30 T C 9: 109,913,465 (GRCm39) D1223G possibly damaging Het
Dnajb11 A G 16: 22,688,196 (GRCm39) D238G probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Erbb2 T G 11: 98,326,123 (GRCm39) C966W probably benign Het
Exoc1 C T 5: 76,697,417 (GRCm39) T405I possibly damaging Het
Fbxo28 T C 1: 182,157,475 (GRCm39) N108S possibly damaging Het
Fhdc1 T C 3: 84,352,409 (GRCm39) E157G probably benign Het
Gstcd C T 3: 132,787,829 (GRCm39) V290M probably damaging Het
Hps3 A G 3: 20,089,425 (GRCm39) V2A possibly damaging Het
Ilrun T C 17: 28,005,236 (GRCm39) E107G probably damaging Het
Itsn2 G A 12: 4,674,927 (GRCm39) R23H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lax1 C T 1: 133,610,774 (GRCm39) G105S probably benign Het
Lin7c G T 2: 109,726,790 (GRCm39) probably null Het
Luzp1 T C 4: 136,269,504 (GRCm39) S576P probably benign Het
Mast4 G T 13: 102,990,377 (GRCm39) A48E probably damaging Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mat2a G A 6: 72,413,227 (GRCm39) R168C probably damaging Het
Megf8 T C 7: 25,037,200 (GRCm39) V700A probably damaging Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Myh2 G T 11: 67,070,230 (GRCm39) E421* probably null Het
Or12d2 T A 17: 37,625,165 (GRCm39) I37L probably benign Het
Or5k17 T C 16: 58,746,483 (GRCm39) I150M possibly damaging Het
Pecam1 T C 11: 106,545,986 (GRCm39) N693D probably benign Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prune2 A G 19: 16,977,384 (GRCm39) T40A probably damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Reln T C 5: 22,432,628 (GRCm39) Q124R probably benign Het
Rnf17 C T 14: 56,697,458 (GRCm39) H451Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sall3 T A 18: 81,013,055 (GRCm39) E1127V probably benign Het
Sertad3 A G 7: 27,176,120 (GRCm39) N185D probably damaging Het
Sox1 A G 8: 12,446,719 (GRCm39) Y120C probably damaging Het
Spag17 A T 3: 99,956,546 (GRCm39) I881F probably benign Het
Spart G T 3: 55,025,157 (GRCm39) V251L probably damaging Het
Stard9 A G 2: 120,534,636 (GRCm39) E3631G probably benign Het
Syde2 A G 3: 145,721,480 (GRCm39) T848A probably benign Het
Tmem11 T C 11: 60,756,154 (GRCm39) D12G possibly damaging Het
Trim28 T C 7: 12,762,485 (GRCm39) probably benign Het
Tsen2 T A 6: 115,524,948 (GRCm39) V49E probably damaging Het
Tspan1 C T 4: 116,024,232 (GRCm39) M10I probably benign Het
Uncx A T 5: 139,532,444 (GRCm39) T170S probably damaging Het
Usp24 T C 4: 106,236,421 (GRCm39) probably benign Het
Vmn1r84 T C 7: 12,095,857 (GRCm39) I267V probably benign Het
Zfp488 T A 14: 33,693,110 (GRCm39) M18L probably benign 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
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
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'- ACCAACCTCACCTGGTCTAG -3'
(R):5'- TCTGACATCTGGGCTGCTTC -3'

Sequencing Primer
(F):5'- TCCGGGACCATGAAGCTC -3'
(R):5'- GGGCTGCTTCCTCCCTG -3'
Posted On 2015-04-30