Incidental Mutation 'IGL02970:Lrrn3'
ID365788
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: 0.185) question?
Stock #IGL02970
Quality Score
Status
Chromosome12
Chromosomal Location41451668-41486431 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 41452360 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 653 (S653R)
Ref Sequence ENSEMBL: ENSMUSP00000043818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043884] [ENSMUST00000132121] [ENSMUST00000134965]
Predicted Effect probably benign
Transcript: ENSMUST00000043884
AA Change: S653R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: S653R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in Lrrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Lrrn3 APN 12 41452192 intron probably benign
IGL02825:Lrrn3 APN 12 41452593 missense probably damaging 1.00
IGL02927:Lrrn3 APN 12 41453344 missense probably damaging 1.00
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
Posted On2015-12-18