Incidental Mutation 'R0612:Lrrn2'
ID 54776
Institutional Source Beutler Lab
Gene Symbol Lrrn2
Ensembl Gene ENSMUSG00000026443
Gene Name leucine rich repeat protein 2, neuronal
Synonyms NLRR-2, 5730406J09Rik
MMRRC Submission 038801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0612 (G1)
Quality Score 149
Status Validated
Chromosome 1
Chromosomal Location 132808093-132867743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132865466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 177 (L177P)
Ref Sequence ENSEMBL: ENSMUSP00000027706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027706]
AlphaFold Q6PHP6
Predicted Effect probably damaging
Transcript: ENSMUST00000027706
AA Change: L177P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: L177P

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 0.9424 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.5%
Validation Efficiency 98% (92/94)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,936,478 (GRCm39) L181P probably damaging Het
Aldh3a1 A T 11: 61,105,445 (GRCm39) I184F probably damaging Het
Arl6ip4 A G 5: 124,254,596 (GRCm39) S30G probably benign Het
Atp9b T C 18: 80,797,171 (GRCm39) E891G possibly damaging Het
Brsk1 T C 7: 4,710,425 (GRCm39) L478P possibly damaging Het
Btaf1 G A 19: 36,946,537 (GRCm39) V448I probably damaging Het
Cab39 T C 1: 85,746,236 (GRCm39) probably null Het
Cacna2d4 G T 6: 119,258,679 (GRCm39) probably benign Het
Capzb C T 4: 139,018,340 (GRCm39) S253L probably benign Het
Ccdc174 A G 6: 91,867,873 (GRCm39) probably benign Het
Ccdc180 C T 4: 45,927,969 (GRCm39) A1168V probably damaging Het
Cdh19 T C 1: 110,820,900 (GRCm39) probably benign Het
Cdh8 T C 8: 100,127,546 (GRCm39) T22A probably benign Het
Cdk10 T C 8: 123,957,419 (GRCm39) V181A probably benign Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cftr A C 6: 18,198,125 (GRCm39) T20P probably benign Het
Cip2a C T 16: 48,819,402 (GRCm39) A112V probably benign Het
Clstn3 T C 6: 124,426,459 (GRCm39) T576A probably damaging Het
Col1a2 G A 6: 4,516,003 (GRCm39) V165I unknown Het
Copg2 A T 6: 30,838,404 (GRCm39) probably null Het
Cps1 A G 1: 67,178,929 (GRCm39) H47R probably benign Het
Cytip T C 2: 58,024,202 (GRCm39) D206G possibly damaging Het
Dcaf8l G A X: 88,448,972 (GRCm39) R386* probably null Het
Dnmt1 C T 9: 20,829,489 (GRCm39) E824K probably damaging Het
Dock7 A C 4: 98,877,470 (GRCm39) V442G probably benign Het
Dsc1 T G 18: 20,247,573 (GRCm39) K14T probably damaging Het
Dync1h1 C T 12: 110,582,930 (GRCm39) P371L probably damaging Het
Enah A G 1: 181,734,013 (GRCm39) probably benign Het
Entrep2 C T 7: 64,411,549 (GRCm39) V395M probably benign Het
Fastkd1 T C 2: 69,542,727 (GRCm39) T27A probably benign Het
Fcho1 A G 8: 72,168,168 (GRCm39) L248P probably damaging Het
Fezf1 A T 6: 23,247,028 (GRCm39) V268D probably damaging Het
Fgd2 T A 17: 29,597,321 (GRCm39) V547E probably benign Het
Flnb T A 14: 7,887,682 (GRCm38) probably benign Het
Gabrg3 A G 7: 56,379,454 (GRCm39) M316T probably damaging Het
Gigyf2 T C 1: 87,376,802 (GRCm39) F1265L probably damaging Het
Git2 A G 5: 114,890,342 (GRCm39) S271P probably damaging Het
Gorab T C 1: 163,224,738 (GRCm39) D21G possibly damaging Het
Gpr179 T A 11: 97,229,264 (GRCm39) T964S possibly damaging Het
Hdac5 A G 11: 102,087,078 (GRCm39) V1042A possibly damaging Het
Hoxa2 T A 6: 52,140,540 (GRCm39) T149S probably damaging Het
Igsf8 G T 1: 172,146,974 (GRCm39) *108L probably null Het
Il1rap C T 16: 26,519,855 (GRCm39) T307M possibly damaging Het
Itih2 T C 2: 10,122,205 (GRCm39) D232G probably benign Het
Jak3 A G 8: 72,136,021 (GRCm39) Y607C probably damaging Het
Kcnh1 C T 1: 191,959,361 (GRCm39) P305L probably damaging Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Lypd8l A G 11: 58,502,799 (GRCm39) probably null Het
Map4k3 C A 17: 80,909,622 (GRCm39) K712N probably damaging Het
Med11 A G 11: 70,342,910 (GRCm39) T36A probably benign Het
Mmp14 A G 14: 54,677,891 (GRCm39) D504G probably damaging Het
Mob1a A G 6: 83,311,140 (GRCm39) T120A probably benign Het
Mr1 T A 1: 155,013,436 (GRCm39) D47V probably damaging Het
Nacad G T 11: 6,551,382 (GRCm39) A603E possibly damaging Het
Nwd1 T A 8: 73,394,308 (GRCm39) W524R probably damaging Het
Or11g26 A T 14: 50,752,939 (GRCm39) T93S probably benign Het
Or13a19 T A 7: 139,903,101 (GRCm39) M163K possibly damaging Het
Or4e1 T C 14: 52,701,008 (GRCm39) T153A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pde6c T A 19: 38,121,694 (GRCm39) C101S probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdlim4 G A 11: 53,959,713 (GRCm39) R16C probably damaging Het
Pfkp A G 13: 6,655,670 (GRCm39) probably null Het
Plcg2 T A 8: 118,300,104 (GRCm39) S225T probably benign Het
Pramel1 T C 4: 143,124,101 (GRCm39) S259P probably damaging Het
Pramel27 G T 4: 143,578,658 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,301,227 (GRCm39) N92D possibly damaging Het
Ric8b C A 10: 84,837,745 (GRCm39) N517K probably damaging Het
Rnf34 G A 5: 123,002,237 (GRCm39) R65H probably damaging Het
Rraga C T 4: 86,494,564 (GRCm39) R137C probably damaging Het
Scube2 C T 7: 109,403,971 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,352,179 (GRCm39) M339T probably damaging Het
Spata31d1d T C 13: 59,875,787 (GRCm39) I583V probably benign Het
Suox T C 10: 128,506,525 (GRCm39) E501G probably benign Het
Susd1 A G 4: 59,390,561 (GRCm39) probably benign Het
Tac1 T C 6: 7,555,653 (GRCm39) S14P probably damaging Het
Tbc1d8 T C 1: 39,411,596 (GRCm39) E1080G possibly damaging Het
Tll1 A C 8: 64,524,344 (GRCm39) S447R possibly damaging Het
Tmem132e G A 11: 82,334,198 (GRCm39) V662M probably damaging Het
Upf2 G T 2: 6,038,909 (GRCm39) probably benign Het
Uspl1 A G 5: 149,151,767 (GRCm39) E989G probably damaging Het
Vmn1r58 T C 7: 5,413,618 (GRCm39) H204R probably damaging Het
Vmn2r25 A T 6: 123,816,481 (GRCm39) C367S probably damaging Het
Vps13b A T 15: 35,623,803 (GRCm39) Q1240L probably benign Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Yeats2 T G 16: 20,005,175 (GRCm39) V385G 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
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
Predicted Primers PCR Primer
(F):5'- AACAGCTTCTCAGATGCCCGAGAC -3'
(R):5'- GAAAGAGAGACTCTCCAGGCTTTGC -3'

Sequencing Primer
(F):5'- GAGACTGCGATTTCCAAGC -3'
(R):5'- TTGCAGTCCCTCCAGAGC -3'
Posted On 2013-07-11