Incidental Mutation 'IGL02142:Lrrn2'
ID 281604
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 # IGL02142
Quality Score
Status
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132866983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 683 (S683T)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000027706
AA Change: S683T

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: S683T

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 0.1986 question?
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,963,575 (GRCm39) S2060P probably benign Het
Abcg4 A G 9: 44,189,014 (GRCm39) F426S probably benign Het
Actn1 C T 12: 80,222,929 (GRCm39) probably null Het
Adgrd1 T A 5: 129,208,648 (GRCm39) H251Q probably benign Het
Adgrg3 C T 8: 95,766,483 (GRCm39) P385S probably damaging Het
Ampd2 G T 3: 107,987,660 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,155,360 (GRCm39) S86P probably damaging Het
Art5 C T 7: 101,747,123 (GRCm39) E121K probably null Het
Atad5 G A 11: 79,985,023 (GRCm39) E37K probably benign Het
Atp13a5 A G 16: 29,053,315 (GRCm39) V1084A probably benign Het
Cfap44 T C 16: 44,241,507 (GRCm39) I626T probably benign Het
Col16a1 T A 4: 129,945,440 (GRCm39) probably null Het
Defa22 T G 8: 21,653,130 (GRCm39) C81G possibly damaging Het
Dnm2 A G 9: 21,411,649 (GRCm39) Y622C probably damaging Het
Efna5 T A 17: 62,914,340 (GRCm39) L201F unknown Het
Elac1 T C 18: 73,871,991 (GRCm39) R335G probably benign Het
Enpp5 T C 17: 44,396,468 (GRCm39) V460A probably benign Het
Esr2 A G 12: 76,169,969 (GRCm39) V453A probably benign Het
Fam210b T A 2: 172,194,497 (GRCm39) probably benign Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Fcrlb A G 1: 170,736,248 (GRCm39) V176A probably damaging Het
Gabrq T A X: 71,879,783 (GRCm39) V256E possibly damaging Het
Gba1 T C 3: 89,113,148 (GRCm39) L193P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Helq A G 5: 100,930,960 (GRCm39) F597L probably benign Het
Hrh1 A T 6: 114,457,204 (GRCm39) I162L probably damaging Het
Jph1 A T 1: 17,161,884 (GRCm39) F259L probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Kdm4c T A 4: 74,225,253 (GRCm39) probably null Het
Kif13a T C 13: 46,925,011 (GRCm39) T308A probably benign Het
Lars1 C T 18: 42,360,345 (GRCm39) V704M probably benign Het
Lcmt2 A G 2: 120,969,394 (GRCm39) L343P possibly damaging Het
Lhfpl1 A G X: 144,123,733 (GRCm39) F125L probably benign Het
Lmbrd2 C A 15: 9,186,772 (GRCm39) D582E probably damaging Het
Macf1 T C 4: 123,365,842 (GRCm39) D1408G probably benign Het
Magi3 T C 3: 103,923,219 (GRCm39) K1166R probably benign Het
Marchf5 T C 19: 37,197,892 (GRCm39) probably benign Het
Ms4a20 G A 19: 11,087,695 (GRCm39) Q79* probably null Het
Naa25 A G 5: 121,564,825 (GRCm39) Q555R possibly damaging Het
Npat A G 9: 53,481,207 (GRCm39) T1005A probably benign Het
Nt5c3 G A 6: 56,863,670 (GRCm39) A108V probably damaging Het
Ocrl T A X: 47,024,995 (GRCm39) M322K probably damaging Het
Odad2 C A 18: 7,214,601 (GRCm39) W733C probably damaging Het
Or8g2 A G 9: 39,821,935 (GRCm39) T279A possibly damaging Het
Psg23 A T 7: 18,344,345 (GRCm39) V370E probably benign Het
Rassf2 A T 2: 131,838,353 (GRCm39) M311K possibly damaging Het
Rhobtb3 A G 13: 76,025,614 (GRCm39) Y501H probably damaging Het
Rpl4 A G 9: 64,083,488 (GRCm39) D179G possibly damaging Het
Scn2a T A 2: 65,546,182 (GRCm39) I915N probably damaging Het
Scn3a T A 2: 65,356,965 (GRCm39) T160S possibly damaging Het
Slx4ip T G 2: 136,909,942 (GRCm39) N242K possibly damaging Het
Spidr T A 16: 15,865,945 (GRCm39) Q288L probably benign Het
Sun1 A T 5: 139,216,918 (GRCm39) H255L possibly damaging Het
Tacc1 C T 8: 25,665,233 (GRCm39) G51S probably damaging Het
Tet2 T A 3: 133,185,900 (GRCm39) N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,101,752 (GRCm39) Y349C probably damaging Het
Tnrc6a T C 7: 122,751,414 (GRCm39) probably benign Het
Trim32 T C 4: 65,532,736 (GRCm39) L431P probably damaging Het
Vmn1r35 A G 6: 66,656,334 (GRCm39) L112S probably damaging Het
Vmn2r100 A C 17: 19,742,583 (GRCm39) H319P probably damaging Het
Wdr20rt A G 12: 65,274,039 (GRCm39) T328A probably benign Het
Zbtb17 T C 4: 141,192,293 (GRCm39) Y413H 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
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 2015-04-16