Incidental Mutation 'R7021:Lrrn2'
ID 545595
Institutional Source Beutler Lab
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
MMRRC Submission 045122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7021 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132866522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 529 (L529P)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably damaging
Transcript: ENSMUST00000027706
AA Change: L529P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: L529P

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
Meta Mutation Damage Score 0.5917 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,442,062 (GRCm39) L63R probably damaging Het
Abcb5 C T 12: 118,895,660 (GRCm39) V379I probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ahsa1 T C 12: 87,318,154 (GRCm39) S37P possibly damaging Het
Arnt2 A T 7: 83,993,150 (GRCm39) L130H probably damaging Het
Atp8b5 T A 4: 43,355,618 (GRCm39) F533I probably damaging Het
Best1 A G 19: 9,964,143 (GRCm39) V439A probably benign Het
Bicc1 A G 10: 70,796,978 (GRCm39) V127A probably damaging Het
Brd7 T C 8: 89,073,632 (GRCm39) T253A probably benign Het
Btd A G 14: 31,389,788 (GRCm39) D503G probably benign Het
Ccdc80 A G 16: 44,924,804 (GRCm39) E646G probably damaging Het
Ccl25 A G 8: 4,399,641 (GRCm39) probably benign Het
Ccnf C A 17: 24,461,205 (GRCm39) W150L probably damaging Het
Cdk11b A T 4: 155,726,024 (GRCm39) probably benign Het
Cfap73 T C 5: 120,768,149 (GRCm39) E203G probably benign Het
Cmya5 T C 13: 93,230,063 (GRCm39) E1675G possibly damaging Het
Copg1 T A 6: 87,871,087 (GRCm39) Y268N possibly damaging Het
Csnk2a1 T A 2: 152,102,732 (GRCm39) H126Q probably damaging Het
Ctbs G A 3: 146,160,703 (GRCm39) G90D probably damaging Het
Ctnna2 T C 6: 77,613,888 (GRCm39) Y221C probably damaging Het
Cypt12 C T 3: 18,002,635 (GRCm39) R3C unknown Het
D630003M21Rik A T 2: 158,058,670 (GRCm39) M410K possibly damaging Het
Dnah9 A T 11: 65,872,057 (GRCm39) N2724K probably benign Het
Dok3 T C 13: 55,672,097 (GRCm39) T194A probably benign Het
Edem3 T G 1: 151,631,423 (GRCm39) S36A probably benign Het
Eed C T 7: 89,629,727 (GRCm39) E3K possibly damaging Het
Efcab2 A G 1: 178,308,925 (GRCm39) I143V probably benign Het
Ensa A T 3: 95,534,359 (GRCm39) probably null Het
Galnt16 A T 12: 80,626,826 (GRCm39) E219V probably damaging Het
Gfra3 C A 18: 34,823,933 (GRCm39) R347L probably benign Het
Gm2042 T A 12: 87,927,009 (GRCm39) I442K probably damaging Het
Gpld1 A T 13: 25,168,691 (GRCm39) D735V probably damaging Het
Hspg2 T C 4: 137,269,580 (GRCm39) S2253P possibly damaging Het
Kit T C 5: 75,781,627 (GRCm39) I352T probably benign Het
Klra6 A T 6: 129,995,821 (GRCm39) V179E possibly damaging Het
Lctl T A 9: 64,040,075 (GRCm39) probably null Het
Lman1 C A 18: 66,124,714 (GRCm39) V342L probably benign Het
Mab21l2 A G 3: 86,454,793 (GRCm39) I69T probably benign Het
Mapkapk5 G T 5: 121,665,274 (GRCm39) A327E probably benign Het
Mex3b G T 7: 82,519,080 (GRCm39) R465L possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mgat4c A G 10: 102,224,289 (GRCm39) R168G possibly damaging Het
Mkks A G 2: 136,718,007 (GRCm39) probably null Het
Muc16 G T 9: 18,466,215 (GRCm39) H7368N unknown Het
Muc16 T C 9: 18,462,127 (GRCm39) probably null Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Notch2 T C 3: 98,042,762 (GRCm39) S1376P probably benign Het
Obox5 A G 7: 15,491,681 (GRCm39) probably null Het
Or10j5 T C 1: 172,784,494 (GRCm39) I44T probably benign Het
Or6c8b A T 10: 128,882,899 (GRCm39) I11N probably damaging Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pitrm1 T A 13: 6,628,593 (GRCm39) V962E probably damaging Het
Pkd2l1 T C 19: 44,142,647 (GRCm39) Q465R probably damaging Het
Pla1a A G 16: 38,221,244 (GRCm39) I372T probably damaging Het
Prmt5 A C 14: 54,752,845 (GRCm39) F122C probably damaging Het
Prrc2b T A 2: 32,111,498 (GRCm39) S1905T probably damaging Het
Ptprf T G 4: 118,081,101 (GRCm39) K1163N probably benign Het
Rab3ip A G 10: 116,775,283 (GRCm39) V25A probably damaging Het
Raf1 T C 6: 115,597,300 (GRCm39) probably null Het
Rnf180 T C 13: 105,407,429 (GRCm39) E40G probably benign Het
Rpl6 T A 5: 121,346,972 (GRCm39) M289K probably benign Het
Slc25a32 A G 15: 38,963,321 (GRCm39) F167L probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc4a4 T A 5: 89,188,205 (GRCm39) probably null Het
Sppl2a A G 2: 126,769,663 (GRCm39) probably null Het
Tbr1 T A 2: 61,637,688 (GRCm39) D82E probably benign Het
Tbx10 A T 19: 4,048,961 (GRCm39) T291S probably benign Het
Tlr1 T A 5: 65,083,056 (GRCm39) H507L possibly damaging Het
Trim37 A C 11: 87,058,335 (GRCm39) T338P probably benign Het
Trpv5 T C 6: 41,630,204 (GRCm39) T629A probably benign Het
Ttc14 T A 3: 33,857,646 (GRCm39) I249N probably damaging Het
Uhrf1 A G 17: 56,627,450 (GRCm39) T661A probably benign Het
Vmn2r65 A G 7: 84,596,587 (GRCm39) I156T probably benign Het
Vwde T C 6: 13,186,905 (GRCm39) N861D probably damaging Het
Zan A G 5: 137,422,213 (GRCm39) C2802R unknown 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
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
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'- TGGAGTTCGACTGACACCTG -3'
(R):5'- CATCAGCAAAGGCCACTTG -3'

Sequencing Primer
(F):5'- ACTGACACCTGCTCGCTCAG -3'
(R):5'- AGTACTCTGTGGCCGGAAG -3'
Posted On 2019-05-13