Incidental Mutation 'R6022:Lrrn3'
ID 479008
Institutional Source Beutler Lab
Gene Symbol Lrrn3
Ensembl Gene ENSMUSG00000036295
Gene Name leucine rich repeat protein 3, neuronal
Synonyms NLRR-3
MMRRC Submission 043256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 41501667-41536056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41503429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 296 (E296G)
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: E296G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: E296G

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,240,759 (GRCm39) F874C probably damaging Het
Adam9 T C 8: 25,493,321 (GRCm39) T96A possibly damaging Het
Arhgef26 C T 3: 62,336,360 (GRCm39) T633M probably damaging Het
Atxn2l A G 7: 126,095,607 (GRCm39) probably null Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Caskin1 T A 17: 24,715,709 (GRCm39) F158I probably benign Het
Ces1g T A 8: 94,055,085 (GRCm39) N204I probably damaging Het
Chd1 A G 17: 17,598,035 (GRCm39) I41V probably benign Het
Crybg2 A T 4: 133,801,584 (GRCm39) K915* probably null Het
Dock4 T C 12: 40,798,109 (GRCm39) V911A probably benign Het
Dok5 A G 2: 170,721,142 (GRCm39) Y302C probably damaging Het
Dpysl4 A T 7: 138,666,000 (GRCm39) probably benign Het
Dsc3 A C 18: 20,099,395 (GRCm39) V707G probably damaging Het
Endog A G 2: 30,062,921 (GRCm39) Y187C possibly damaging Het
Fcrl5 A G 3: 87,363,070 (GRCm39) T526A probably benign Het
Gcat T C 15: 78,926,478 (GRCm39) V116A probably damaging Het
Herc1 A G 9: 66,390,967 (GRCm39) D3975G probably damaging Het
Jmy G T 13: 93,590,086 (GRCm39) probably null Het
Kif1b T C 4: 149,282,989 (GRCm39) I1273V probably benign Het
Lrriq1 G T 10: 103,051,395 (GRCm39) N452K possibly damaging Het
Marco G A 1: 120,416,294 (GRCm39) L208F probably benign Het
Mme T A 3: 63,272,218 (GRCm39) W606R probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Phc3 A G 3: 30,984,174 (GRCm39) S647P probably damaging Het
Prx A G 7: 27,216,998 (GRCm39) K500E probably damaging Het
Ptpn22 T A 3: 103,793,421 (GRCm39) V524E probably benign Het
Ptprj A T 2: 90,301,667 (GRCm39) I155K probably benign Het
Rad51ap2 A G 12: 11,508,523 (GRCm39) E815G probably damaging Het
Rnf150 T C 8: 83,769,358 (GRCm39) V381A probably benign Het
Rnf213 A G 11: 119,376,836 (GRCm39) K5103R probably benign Het
Speer4a2 T G 5: 26,289,677 (GRCm39) E250A probably benign Het
Tecpr1 A T 5: 144,136,009 (GRCm39) W961R possibly damaging Het
Tnn A T 1: 159,937,928 (GRCm39) D932E probably benign Het
Tram2 G A 1: 21,149,361 (GRCm39) probably benign Het
Trbv26 T A 6: 41,204,509 (GRCm39) probably benign Het
Trmt11 A G 10: 30,463,497 (GRCm39) I206T possibly damaging Het
Ttk T C 9: 83,721,375 (GRCm39) Y87H probably damaging Het
Uri1 A T 7: 37,660,902 (GRCm39) probably benign Het
Vmn1r173 A G 7: 23,402,260 (GRCm39) D165G probably benign Het
Xpc A G 6: 91,476,618 (GRCm39) S494P probably damaging Het
Zfp438 T A 18: 5,213,419 (GRCm39) N513I 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
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
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'- TCGGCAAAGACTCTATGGTG -3'
(R):5'- GAAATACCAGACGACGCCTTG -3'

Sequencing Primer
(F):5'- CAAAGACTCTATGGTGCCGTG -3'
(R):5'- TGGAGAACCTAGAAAGCATCTC -3'
Posted On 2017-06-26