Incidental Mutation 'R5482:Lrrn3'
ID 434401
Institutional Source Beutler Lab
Gene Symbol Lrrn3
Ensembl Gene ENSMUSG00000036295
Gene Name leucine rich repeat protein 3, neuronal
Synonyms NLRR-3
MMRRC Submission 043043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5482 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 41501667-41536056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 41502387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 643 (C643W)
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: C643W

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043818
Gene: ENSMUSG00000036295
AA Change: C643W

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 0.1093 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.6%
Validation Efficiency 99% (68/69)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,139,036 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,968,370 (GRCm39) L801P probably damaging Het
Acap3 A G 4: 155,984,613 (GRCm39) D212G probably benign Het
Acsl6 G A 11: 54,217,964 (GRCm39) D166N probably damaging Het
Acy1 T C 9: 106,311,838 (GRCm39) probably benign Het
Adgrl3 A G 5: 81,942,360 (GRCm39) N1368S probably damaging Het
Akap5 T C 12: 76,375,600 (GRCm39) I344T probably benign Het
Aplp1 A G 7: 30,139,600 (GRCm39) F399S probably damaging Het
Arap3 A G 18: 38,107,727 (GRCm39) S1302P possibly damaging Het
Bik T G 15: 83,428,335 (GRCm39) V121G probably damaging Het
Birc6 A T 17: 74,948,777 (GRCm39) M3069L possibly damaging Het
Birc6 A G 17: 74,969,685 (GRCm39) T4237A probably damaging Het
Btn2a2 T C 13: 23,670,557 (GRCm39) N59D probably benign Het
Cabyr A G 18: 12,884,496 (GRCm39) S328G possibly damaging Het
Cfap57 C T 4: 118,426,838 (GRCm39) G1067R probably benign Het
Cryl1 A T 14: 57,550,469 (GRCm39) F132I probably damaging Het
Dipk1a C G 5: 108,057,529 (GRCm39) C343S probably damaging Het
Dnah8 G A 17: 31,019,521 (GRCm39) E3865K probably damaging Het
Dock3 G A 9: 106,855,937 (GRCm39) R741* probably null Het
Fsip2 C T 2: 82,815,654 (GRCm39) L3796F possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5535 C A 2: 144,016,492 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,695,055 (GRCm39) M202K probably damaging Het
Hecw2 T A 1: 53,965,360 (GRCm39) M489L probably benign Het
Lrrk1 A G 7: 65,980,418 (GRCm39) I254T probably benign Het
Nr2f6 A T 8: 71,827,182 (GRCm39) I373N probably damaging Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or5b12 T C 19: 12,897,269 (GRCm39) T135A probably damaging Het
Or6c3 T C 10: 129,308,947 (GRCm39) Y129H probably benign Het
Otogl T A 10: 107,657,802 (GRCm39) I1043F probably damaging Het
Padi3 G A 4: 140,523,154 (GRCm39) T302I probably damaging Het
Pcdhgb5 A G 18: 37,864,585 (GRCm39) N127D probably damaging Het
Pign A G 1: 105,474,435 (GRCm39) F876L probably benign Het
Pip5k1c A G 10: 81,128,897 (GRCm39) E2G probably damaging Het
Ppp1r18 G A 17: 36,184,771 (GRCm39) E141K probably damaging Het
Ralbp1 A C 17: 66,168,563 (GRCm39) Y247* probably null Het
Ripply2 A G 9: 86,897,620 (GRCm39) E8G possibly damaging Het
Rufy3 TAAGCA TA 5: 88,785,191 (GRCm39) probably null Het
Skint2 T G 4: 112,483,076 (GRCm39) C160W probably damaging Het
Sun2 C T 15: 79,621,712 (GRCm39) R172Q probably benign Het
Syna A G 5: 134,588,028 (GRCm39) L307P possibly damaging Het
Tlcd3b A G 7: 126,426,660 (GRCm39) T78A possibly damaging Het
Trappc12 T C 12: 28,741,324 (GRCm39) K795R probably damaging Het
Trmt9b A T 8: 36,979,203 (GRCm39) M269L probably benign Het
Ttll11 A G 2: 35,642,418 (GRCm39) S638P probably damaging Het
Usp2 G A 9: 44,000,480 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,038,285 (GRCm39) E620V possibly damaging Het
Wdr36 A T 18: 32,974,957 (GRCm39) H103L probably benign Het
Wnt5b T C 6: 119,423,392 (GRCm39) T78A probably benign Het
Zc2hc1b C T 10: 13,029,270 (GRCm39) R146Q 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 41,502,386 (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'- TTTGTCGGCACTCCTATAGC -3'
(R):5'- TGCTCGAATACCATTTGATGTCAAG -3'

Sequencing Primer
(F):5'- GGCACTCCTATAGCCGTTG -3'
(R):5'- TTACTCATCTGAAACCATCTACCGAG -3'
Posted On 2016-10-06