Incidental Mutation 'IGL02825:Lrrn3'
ID361179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrn3
Ensembl Gene ENSMUSG00000036295
Gene Nameleucine rich repeat protein 3, neuronal
SynonymsNLRR-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL02825
Quality Score
Status
Chromosome12
Chromosomal Location41451668-41486431 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41452593 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 575 (V575D)
Ref Sequence ENSEMBL: ENSMUSP00000043818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043884] [ENSMUST00000132121] [ENSMUST00000134965]
Predicted Effect probably damaging
Transcript: ENSMUST00000043884
AA Change: V575D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: V575D

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
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
Abo A G 2: 26,843,698 V163A possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
B3gnt4 T C 5: 123,511,051 F160L possibly damaging Het
Brd3 T C 2: 27,449,263 E685G probably damaging Het
Cacna2d2 C T 9: 107,524,460 R746C probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chl1 T A 6: 103,668,803 V268E possibly damaging Het
Cpb1 T A 3: 20,249,725 I392F probably damaging Het
Dnaic1 T C 4: 41,625,101 probably benign Het
Dync2h1 T C 9: 6,955,901 probably benign Het
Edc4 T C 8: 105,890,611 S1021P probably damaging Het
Exoc7 A C 11: 116,297,585 L296R probably damaging Het
Fgd5 A G 6: 92,038,087 probably null Het
Gm28042 T A 2: 120,031,644 M232K probably damaging Het
Gm884 G A 11: 103,617,068 probably benign Het
Ints1 A T 5: 139,764,739 S888T probably benign Het
Kirrel A T 3: 87,089,288 probably benign Het
Lrp1 C T 10: 127,542,605 R4037Q probably damaging Het
Mapk11 A G 15: 89,146,382 Y103H probably damaging Het
Mrpl19 G T 6: 81,965,815 T38K probably benign Het
Nefl A T 14: 68,084,346 K128N possibly damaging Het
Olfm1 A G 2: 28,229,078 N242D probably damaging Het
Olfr601 T C 7: 103,358,361 I278V probably benign Het
Olfr959 A T 9: 39,572,581 I226N probably damaging Het
Oprd1 T A 4: 132,117,359 T113S probably damaging Het
Pds5b C T 5: 150,728,970 T234I possibly damaging Het
Prpf3 A T 3: 95,853,480 C37S probably damaging Het
Rpgrip1l G A 8: 91,304,805 T148M probably damaging Het
Rph3a T C 5: 120,945,446 K587R possibly damaging Het
Scn3b T C 9: 40,277,145 C5R probably damaging Het
Sirpa C T 2: 129,615,452 P149S probably damaging Het
Slco1a1 A T 6: 141,918,617 C486S probably damaging Het
Spin1 C A 13: 51,123,296 probably benign Het
Stom C A 2: 35,321,632 V126F probably damaging Het
Tom1 A G 8: 75,057,255 D64G probably damaging Het
Trbv4 T A 6: 41,059,679 L46Q probably damaging Het
Trhr A T 15: 44,229,525 D386V possibly damaging Het
Vmn2r101 T A 17: 19,589,870 I306N probably benign Het
Vmn2r51 C T 7: 10,098,119 probably benign Het
Vmn2r63 A G 7: 42,926,850 probably null Het
Zfp277 T C 12: 40,317,176 K494E probably benign Het
Zranb3 A T 1: 127,959,752 S979R probably benign Het
Other mutations in Lrrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Lrrn3 APN 12 41452192 intron probably benign
IGL02927:Lrrn3 APN 12 41453344 missense probably damaging 1.00
IGL02970:Lrrn3 APN 12 41452360 missense probably benign
IGL02995:Lrrn3 APN 12 41452217 missense probably damaging 1.00
IGL02999:Lrrn3 APN 12 41452751 missense probably benign 0.01
IGL03182:Lrrn3 APN 12 41454021 missense probably damaging 1.00
IGL03280:Lrrn3 APN 12 41454147 missense probably damaging 0.97
PIT4469001:Lrrn3 UTSW 12 41453018 missense probably benign 0.03
R0167:Lrrn3 UTSW 12 41454015 missense probably damaging 1.00
R0414:Lrrn3 UTSW 12 41453940 missense probably damaging 1.00
R0787:Lrrn3 UTSW 12 41454231 missense probably damaging 1.00
R0894:Lrrn3 UTSW 12 41454034 missense probably damaging 1.00
R1433:Lrrn3 UTSW 12 41452584 missense possibly damaging 0.74
R1610:Lrrn3 UTSW 12 41452993 missense possibly damaging 0.89
R1834:Lrrn3 UTSW 12 41453518 missense probably damaging 1.00
R2068:Lrrn3 UTSW 12 41452996 missense probably damaging 1.00
R2871:Lrrn3 UTSW 12 41452723 missense probably benign 0.00
R2871:Lrrn3 UTSW 12 41452723 missense probably benign 0.00
R3771:Lrrn3 UTSW 12 41452870 missense probably damaging 1.00
R4408:Lrrn3 UTSW 12 41454042 missense probably benign 0.04
R4410:Lrrn3 UTSW 12 41452584 missense possibly damaging 0.74
R4684:Lrrn3 UTSW 12 41454244 missense possibly damaging 0.75
R4770:Lrrn3 UTSW 12 41452443 missense probably benign 0.08
R4927:Lrrn3 UTSW 12 41453125 missense probably damaging 1.00
R5037:Lrrn3 UTSW 12 41453595 missense probably damaging 1.00
R5482:Lrrn3 UTSW 12 41452387 missense probably benign 0.01
R5482:Lrrn3 UTSW 12 41452388 missense probably damaging 0.96
R5667:Lrrn3 UTSW 12 41452298 missense possibly damaging 0.77
R6022:Lrrn3 UTSW 12 41453430 missense probably damaging 0.96
R6087:Lrrn3 UTSW 12 41453535 missense possibly damaging 0.84
R6129:Lrrn3 UTSW 12 41453788 nonsense probably null
R6309:Lrrn3 UTSW 12 41453206 missense probably damaging 1.00
R7449:Lrrn3 UTSW 12 41453488 missense probably damaging 1.00
R7555:Lrrn3 UTSW 12 41452911 missense probably benign 0.01
R7560:Lrrn3 UTSW 12 41452713 missense possibly damaging 0.93
R8059:Lrrn3 UTSW 12 41454217 missense probably benign 0.22
R8134:Lrrn3 UTSW 12 41453048 missense probably damaging 1.00
Posted On2015-12-18