Incidental Mutation 'R5037:Lrrn3'
ID 389588
Institutional Source Beutler Lab
Gene Symbol Lrrn3
Ensembl Gene ENSMUSG00000036295
Gene Name leucine rich repeat protein 3, neuronal
Synonyms NLRR-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5037 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 41501667-41536056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41503594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 241 (I241N)
Ref Sequence ENSEMBL: ENSMUSP00000043818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043884] [ENSMUST00000132121] [ENSMUST00000134965]
AlphaFold Q8CBC6
Predicted Effect probably damaging
Transcript: ENSMUST00000043884
AA Change: I241N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: I241N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
LRRNT 28 73 9.17e-4 SMART
LRR 115 138 2.63e0 SMART
LRR_TYP 139 162 1.5e-4 SMART
LRR 163 186 7.55e-1 SMART
LRR 187 210 1.76e1 SMART
LRR 211 234 1.62e1 SMART
LRR 235 258 5.11e0 SMART
LRR 260 282 3.18e1 SMART
LRR 333 356 4.44e0 SMART
LRRCT 368 420 3.7e-5 SMART
IGc2 435 503 5.04e-9 SMART
FN3 521 602 3.49e0 SMART
transmembrane domain 626 648 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132121
SMART Domains Protein: ENSMUSP00000118779
Gene: ENSMUSG00000056899

DomainStartEndE-ValueType
Pfam:Peptidase_S24 38 115 7.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134965
SMART Domains Protein: ENSMUSP00000116441
Gene: ENSMUSG00000056899

DomainStartEndE-ValueType
Pfam:Peptidase_S24 38 114 6.4e-11 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutant mice exhibited increased mean percent body fat and male homozygous mutant mice exhibited enhanced glucose tolerance when compared with controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btaf1 T C 19: 36,980,931 (GRCm39) V1584A probably damaging Het
Ccdc136 A T 6: 29,417,122 (GRCm39) S648C probably damaging Het
Ccna2 A G 3: 36,625,152 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cenpf T C 1: 189,416,043 (GRCm39) E94G probably damaging Het
Clic1 G A 17: 35,274,235 (GRCm39) V139I probably benign Het
Coasy A G 11: 100,975,648 (GRCm39) E327G probably damaging Het
Col6a5 C T 9: 105,805,337 (GRCm39) E1190K unknown Het
Cyp2c70 A G 19: 40,172,441 (GRCm39) V67A possibly damaging Het
Dglucy A G 12: 100,801,500 (GRCm39) S52G probably benign Het
Dync1h1 A G 12: 110,607,341 (GRCm39) N2644S probably benign Het
Eif4g2 A T 7: 110,676,239 (GRCm39) N347K probably benign Het
Epha10 T C 4: 124,809,178 (GRCm39) probably benign Het
Epm2aip1 T C 9: 111,101,218 (GRCm39) F64L probably benign Het
Eri2 G A 7: 119,384,897 (GRCm39) L535F probably benign Het
Garin5b T G 7: 4,761,575 (GRCm39) K379T possibly damaging Het
Gm17430 T C 18: 9,726,561 (GRCm39) E37G probably benign Het
Heatr5b T A 17: 79,131,939 (GRCm39) Q388L probably benign Het
Htr1f A G 16: 64,746,291 (GRCm39) W334R probably damaging Het
Icam4 A T 9: 20,940,937 (GRCm39) C717* probably null Het
Iqgap1 A C 7: 80,383,848 (GRCm39) L1072W probably damaging Het
Kbtbd11 G T 8: 15,077,886 (GRCm39) A162S probably benign Het
Kif13b T G 14: 64,996,038 (GRCm39) Y941* probably null Het
Kndc1 T C 7: 139,490,371 (GRCm39) V291A possibly damaging Het
Macf1 A G 4: 123,349,312 (GRCm39) S2387P probably damaging Het
Msh5 A G 17: 35,251,369 (GRCm39) L451S possibly damaging Het
Mthfd1 T G 12: 76,340,914 (GRCm39) F258V probably damaging Het
Ncstn C T 1: 171,896,193 (GRCm39) R495H probably damaging Het
Or4k2 T G 14: 50,423,745 (GRCm39) T310P probably benign Het
Pkd1l3 T A 8: 110,392,268 (GRCm39) I1954N probably damaging Het
Ppox C A 1: 171,105,169 (GRCm39) V340L probably damaging Het
Prkag1 T C 15: 98,713,768 (GRCm39) T21A possibly damaging Het
Pygo1 C A 9: 72,852,199 (GRCm39) H129N probably damaging Het
Rad9a A T 19: 4,247,173 (GRCm39) C271S probably benign Het
Raph1 T C 1: 60,535,381 (GRCm39) probably null Het
Reln A G 5: 22,153,510 (GRCm39) F2265L probably damaging Het
Shc4 A G 2: 125,471,647 (GRCm39) I304T probably damaging Het
Slc35f3 T A 8: 127,116,011 (GRCm39) L313M probably damaging Het
Spata31g1 T A 4: 42,972,195 (GRCm39) H509Q probably benign Het
Spef1l A T 7: 139,558,587 (GRCm39) S3R possibly damaging Het
Sycp2l T A 13: 41,283,337 (GRCm39) M191K possibly damaging Het
Tmem132c C A 5: 127,630,199 (GRCm39) Q579K probably benign Het
Trbj2-5 A G 6: 41,520,394 (GRCm39) probably benign Het
Ttc38 A G 15: 85,728,741 (GRCm39) E231G probably benign Het
Utp20 A G 10: 88,611,192 (GRCm39) V1375A probably benign Het
Vcan T A 13: 89,852,096 (GRCm39) T955S probably damaging Het
Vmn1r89 T C 7: 12,953,314 (GRCm39) C17R possibly damaging Het
Wnk1 A G 6: 119,942,696 (GRCm39) probably benign Het
Zfp667 T G 7: 6,308,949 (GRCm39) I539S possibly damaging Het
Zfp738 T A 13: 67,818,320 (GRCm39) H557L probably damaging Het
Other mutations in Lrrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Lrrn3 APN 12 41,502,191 (GRCm39) intron probably benign
IGL02825:Lrrn3 APN 12 41,502,592 (GRCm39) missense probably damaging 1.00
IGL02927:Lrrn3 APN 12 41,503,343 (GRCm39) missense probably damaging 1.00
IGL02970:Lrrn3 APN 12 41,502,359 (GRCm39) missense probably benign
IGL02995:Lrrn3 APN 12 41,502,216 (GRCm39) missense probably damaging 1.00
IGL02999:Lrrn3 APN 12 41,502,750 (GRCm39) missense probably benign 0.01
IGL03182:Lrrn3 APN 12 41,504,020 (GRCm39) missense probably damaging 1.00
IGL03280:Lrrn3 APN 12 41,504,146 (GRCm39) missense probably damaging 0.97
PIT4469001:Lrrn3 UTSW 12 41,503,017 (GRCm39) missense probably benign 0.03
R0167:Lrrn3 UTSW 12 41,504,014 (GRCm39) missense probably damaging 1.00
R0414:Lrrn3 UTSW 12 41,503,939 (GRCm39) missense probably damaging 1.00
R0787:Lrrn3 UTSW 12 41,504,230 (GRCm39) missense probably damaging 1.00
R0894:Lrrn3 UTSW 12 41,504,033 (GRCm39) missense probably damaging 1.00
R1433:Lrrn3 UTSW 12 41,502,583 (GRCm39) missense possibly damaging 0.74
R1610:Lrrn3 UTSW 12 41,502,992 (GRCm39) missense possibly damaging 0.89
R1834:Lrrn3 UTSW 12 41,503,517 (GRCm39) missense probably damaging 1.00
R2068:Lrrn3 UTSW 12 41,502,995 (GRCm39) missense probably damaging 1.00
R2871:Lrrn3 UTSW 12 41,502,722 (GRCm39) missense probably benign 0.00
R2871:Lrrn3 UTSW 12 41,502,722 (GRCm39) missense probably benign 0.00
R3771:Lrrn3 UTSW 12 41,502,869 (GRCm39) missense probably damaging 1.00
R4408:Lrrn3 UTSW 12 41,504,041 (GRCm39) missense probably benign 0.04
R4410:Lrrn3 UTSW 12 41,502,583 (GRCm39) missense possibly damaging 0.74
R4684:Lrrn3 UTSW 12 41,504,243 (GRCm39) missense possibly damaging 0.75
R4770:Lrrn3 UTSW 12 41,502,442 (GRCm39) missense probably benign 0.08
R4927:Lrrn3 UTSW 12 41,503,124 (GRCm39) missense probably damaging 1.00
R5482:Lrrn3 UTSW 12 41,502,387 (GRCm39) missense probably damaging 0.96
R5482:Lrrn3 UTSW 12 41,502,386 (GRCm39) missense probably benign 0.01
R5667:Lrrn3 UTSW 12 41,502,297 (GRCm39) missense possibly damaging 0.77
R6022:Lrrn3 UTSW 12 41,503,429 (GRCm39) missense probably damaging 0.96
R6087:Lrrn3 UTSW 12 41,503,534 (GRCm39) missense possibly damaging 0.84
R6129:Lrrn3 UTSW 12 41,503,787 (GRCm39) nonsense probably null
R6309:Lrrn3 UTSW 12 41,503,205 (GRCm39) missense probably damaging 1.00
R7449:Lrrn3 UTSW 12 41,503,487 (GRCm39) missense probably damaging 1.00
R7555:Lrrn3 UTSW 12 41,502,910 (GRCm39) missense probably benign 0.01
R7560:Lrrn3 UTSW 12 41,502,712 (GRCm39) missense possibly damaging 0.93
R8059:Lrrn3 UTSW 12 41,504,216 (GRCm39) missense probably benign 0.22
R8134:Lrrn3 UTSW 12 41,503,047 (GRCm39) missense probably damaging 1.00
R8798:Lrrn3 UTSW 12 41,503,174 (GRCm39) missense possibly damaging 0.61
R9308:Lrrn3 UTSW 12 41,503,945 (GRCm39) missense probably damaging 1.00
R9318:Lrrn3 UTSW 12 41,503,243 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGCAAGTTATCCACAGC -3'
(R):5'- GCAGATGATCAACAGTCAATGG -3'

Sequencing Primer
(F):5'- CTGTCAATGGAGACAAGTTCAGGC -3'
(R):5'- CAACAGTCAATGGTTTGATGCTC -3'
Posted On 2016-06-06