Incidental Mutation 'R0414:Lrrn3'
ID 40182
Institutional Source Beutler Lab
Gene Symbol Lrrn3
Ensembl Gene ENSMUSG00000036295
Gene Name leucine rich repeat protein 3, neuronal
Synonyms NLRR-3
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 41501667-41536056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41503939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 126 (N126I)
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: N126I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: N126I

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
Meta Mutation Damage Score 0.8268 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A probably benign 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
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
R5037:Lrrn3 UTSW 12 41,503,594 (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'- TAACCAGGCTGCGAAGCTTGAC -3'
(R):5'- TGCCGACACACAGATTCTGCTC -3'

Sequencing Primer
(F):5'- GAAAGTTCATGTCCTTGATCCTG -3'
(R):5'- AGATTCTGCTCCTACAGACTAAC -3'
Posted On 2013-05-23