Incidental Mutation 'R7811:Lrrn2'
ID 601143
Institutional Source Beutler Lab
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
MMRRC Submission 045866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7811 (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 132866939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 668 (V668A)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably benign
Transcript: ENSMUST00000027706
AA Change: V668A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: V668A

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,527,141 (GRCm39) probably null Het
Abca3 A G 17: 24,616,362 (GRCm39) T935A probably benign Het
Anxa7 A T 14: 20,510,254 (GRCm39) Y399N probably benign Het
Arhgef10l G T 4: 140,242,335 (GRCm39) T1030K possibly damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Bms1 T C 6: 118,380,099 (GRCm39) D736G probably damaging Het
Bpifb1 T A 2: 154,048,484 (GRCm39) probably null Het
Cbx4 A C 11: 118,972,398 (GRCm39) C326G probably benign Het
Ccdc188 A G 16: 18,036,314 (GRCm39) E94G probably benign Het
Cdh5 A G 8: 104,852,235 (GRCm39) T117A possibly damaging Het
Cdk11b A G 4: 155,724,359 (GRCm39) T326A unknown Het
Clec5a C T 6: 40,558,867 (GRCm39) C73Y probably damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Diaph3 T C 14: 87,219,060 (GRCm39) D455G probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Ern1 A T 11: 106,325,694 (GRCm39) V112D unknown Het
Eya3 T C 4: 132,439,272 (GRCm39) I466T possibly damaging Het
Fbxl6 T C 15: 76,421,485 (GRCm39) probably null Het
Ffar1 A G 7: 30,560,802 (GRCm39) S32P possibly damaging Het
Fgb T C 3: 82,957,004 (GRCm39) D22G probably benign Het
Fsip2 T C 2: 82,828,797 (GRCm39) Y6865H possibly damaging Het
Gbx1 T C 5: 24,710,035 (GRCm39) E270G probably damaging Het
Golga4 T C 9: 118,361,643 (GRCm39) L207P probably damaging Het
Hnrnpa1 T C 15: 103,149,900 (GRCm39) S54P possibly damaging Het
Htr4 A G 18: 62,545,269 (GRCm39) E18G possibly damaging Het
Ide A C 19: 37,307,910 (GRCm39) L34R Het
Ip6k3 A T 17: 27,376,557 (GRCm39) Y51* probably null Het
Keap1 A G 9: 21,148,956 (GRCm39) L17P possibly damaging Het
Lypd8 A T 11: 58,281,064 (GRCm39) T209S possibly damaging Het
Myo10 T C 15: 25,804,610 (GRCm39) I1635T probably damaging Het
Myo1e T A 9: 70,234,544 (GRCm39) V299E probably damaging Het
Nadk A T 4: 155,661,332 (GRCm39) probably benign Het
Nalcn A T 14: 123,536,357 (GRCm39) W1231R probably damaging Het
Odf2l A G 3: 144,859,148 (GRCm39) T602A probably benign Het
Or13g1 T A 7: 85,955,554 (GRCm39) T256S probably damaging Het
Or2r3 T A 6: 42,448,635 (GRCm39) E159V probably damaging Het
Pde6c T C 19: 38,128,507 (GRCm39) V190A possibly damaging Het
Ppp4r3a C A 12: 101,019,821 (GRCm39) R378L probably damaging Het
Pus7l A C 15: 94,438,707 (GRCm39) V46G probably damaging Het
Satb2 G A 1: 56,884,880 (GRCm39) S466L probably benign Het
Serpina6 A G 12: 103,620,395 (GRCm39) M118T probably damaging Het
Slc29a1 T C 17: 45,897,189 (GRCm39) R366G probably damaging Het
Slc6a1 T C 6: 114,279,515 (GRCm39) F98S probably damaging Het
Spg7 T C 8: 123,824,164 (GRCm39) I738T possibly damaging Het
Srcap T C 7: 127,141,221 (GRCm39) V1667A probably damaging Het
Stxbp5 T C 10: 9,684,248 (GRCm39) N574S probably benign Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Tbc1d10a T C 11: 4,136,948 (GRCm39) S54P possibly damaging Het
Trim12c T C 7: 103,990,469 (GRCm39) N336S unknown Het
Ubap2 T C 4: 41,211,710 (GRCm39) S351G probably benign Het
Unc13c G T 9: 73,600,553 (GRCm39) A1397E possibly damaging Het
Ush1c G A 7: 45,854,710 (GRCm39) R681* probably null Het
Vmn2r57 A T 7: 41,074,439 (GRCm39) C541* probably null Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Vmn2r88 A T 14: 51,656,160 (GRCm39) T790S Het
Zfp568 A G 7: 29,697,295 (GRCm39) T72A possibly damaging Het
Zfp950 A T 19: 61,108,353 (GRCm39) Y243* probably null Het
Zmym5 A G 14: 57,036,434 (GRCm39) S238P probably damaging Het
Zswim5 A G 4: 116,734,673 (GRCm39) E6G 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
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
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'- AAGTGGCCTTTGCTGATGC -3'
(R):5'- CACGTCCCGTTTAGTGTAGAG -3'

Sequencing Primer
(F):5'- ACACCCAGTTGGCTTGTG -3'
(R):5'- CCCGTTTAGTGTAGAGTTGTCC -3'
Posted On 2019-11-26