Incidental Mutation 'R4410:Lrrn3'
ID 327873
Institutional Source Beutler Lab
Gene Symbol Lrrn3
Ensembl Gene ENSMUSG00000036295
Gene Name leucine rich repeat protein 3, neuronal
Synonyms NLRR-3
MMRRC Submission 041692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R4410 (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 41502583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 578 (Y578F)
Ref Sequence ENSEMBL: ENSMUSP00000043818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043884] [ENSMUST00000132121] [ENSMUST00000134965]
AlphaFold Q8CBC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000043884
AA Change: Y578F

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: Y578F

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 0.1290 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (46/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,609,712 (GRCm39) probably benign Het
Arrb1 G T 7: 99,247,503 (GRCm39) probably benign Het
Cadps A G 14: 12,822,323 (GRCm38) M139T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Cdca4 A T 12: 112,785,499 (GRCm39) H76Q probably benign Het
Ddias A G 7: 92,507,287 (GRCm39) L876P probably benign Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
Dnttip1 A G 2: 164,609,739 (GRCm39) probably benign Het
Eme2 A G 17: 25,112,598 (GRCm39) S160P probably benign Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Folr2 T C 7: 101,489,881 (GRCm39) E129G probably damaging Het
Herc6 T A 6: 57,636,664 (GRCm39) N793K possibly damaging Het
Iqcg T G 16: 32,851,186 (GRCm39) K262Q possibly damaging Het
Lhfpl3 A G 5: 22,980,690 (GRCm39) probably benign Het
Lmod2 A C 6: 24,604,629 (GRCm39) S535R probably damaging Het
Lrp1b T A 2: 40,555,094 (GRCm39) S342C possibly damaging Het
Map3k4 T A 17: 12,467,885 (GRCm39) R1050W probably damaging Het
Muc6 T A 7: 141,217,576 (GRCm39) T2301S possibly damaging Het
Mycbp2 T C 14: 103,372,702 (GRCm39) E4048G probably damaging Het
Myh3 G C 11: 66,975,858 (GRCm39) E297Q possibly damaging Het
Nkain3 A G 4: 20,778,284 (GRCm39) V11A probably benign Het
Or4c102 G A 2: 88,422,765 (GRCm39) V206I probably benign Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pals2 C T 6: 50,175,248 (GRCm39) Q520* probably null Het
Phgdh A G 3: 98,221,591 (GRCm39) M447T probably benign Het
Pmfbp1 G A 8: 110,258,695 (GRCm39) A667T probably benign Het
Pramel41 A T 5: 94,593,720 (GRCm39) Q15L probably benign Het
Psmd2 T G 16: 20,473,776 (GRCm39) C230G probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Slc37a3 T A 6: 39,315,747 (GRCm39) Y443F probably benign Het
Sorl1 C A 9: 41,915,288 (GRCm39) G1314* probably null Het
Spag7 T C 11: 70,555,688 (GRCm39) D83G probably damaging Het
St7 C T 6: 17,854,932 (GRCm39) R267* probably null Het
Syne2 C T 12: 76,141,167 (GRCm39) S99L probably damaging Het
Tacc2 T G 7: 130,343,941 (GRCm39) S2533R possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Uaca T G 9: 60,777,173 (GRCm39) V518G probably damaging Het
Usp43 T C 11: 67,746,716 (GRCm39) E992G probably benign Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Wdr3 G A 3: 100,047,543 (GRCm39) T844M probably benign Het
Wdr7 T A 18: 63,911,320 (GRCm39) M904K probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zmym1 A T 4: 126,941,897 (GRCm39) C830* probably null 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
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'- TAGAAGGCCTCCAACACAGG -3'
(R):5'- ACCTAGTCGGTGCTGATTTG -3'

Sequencing Primer
(F):5'- CAGGCCACAAATACTGTATGATTC -3'
(R):5'- CTGTTCCTCAGGATAATAATGGGTC -3'
Posted On 2015-07-07