Incidental Mutation 'IGL03141:Lrrc3b'
ID 410698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc3b
Ensembl Gene ENSMUSG00000045201
Gene Name leucine rich repeat containing 3B
Synonyms LRP15
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03141
Quality Score
Status
Chromosome 14
Chromosomal Location 7030776-7112248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15358390 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 72 (D72A)
Ref Sequence ENSEMBL: ENSMUSP00000153616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055211] [ENSMUST00000163937] [ENSMUST00000223700]
AlphaFold Q8VCH9
Predicted Effect probably damaging
Transcript: ENSMUST00000055211
AA Change: D72A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: D72A

DomainStartEndE-ValueType
LRRNT 33 68 1.85e-8 SMART
LRR 67 86 3e1 SMART
LRR_TYP 87 110 8.94e-3 SMART
LRR 115 135 3.86e0 SMART
Blast:LRRCT 145 196 2e-8 BLAST
transmembrane domain 203 225 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163937
AA Change: D72A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: D72A

DomainStartEndE-ValueType
LRRNT 33 68 1.85e-8 SMART
LRR 67 86 3e1 SMART
LRR_TYP 87 110 8.94e-3 SMART
LRR 115 135 3.86e0 SMART
Blast:LRRCT 145 196 2e-8 BLAST
transmembrane domain 203 225 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223700
AA Change: D72A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal olfactory epithelium and bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,207,531 (GRCm39) I14T probably benign Het
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cenpt T A 8: 106,578,573 (GRCm39) T15S probably damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
D5Ertd579e T A 5: 36,770,621 (GRCm39) D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Npas1 T C 7: 16,199,063 (GRCm39) E164G probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Snapc3 A G 4: 83,353,523 (GRCm39) I187M probably damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Spout1 A C 2: 30,065,067 (GRCm39) V311G probably damaging Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P possibly damaging Het
Other mutations in Lrrc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Lrrc3b APN 14 15,358,098 (GRCm38) missense probably benign 0.00
Klutz UTSW 14 15,357,946 (GRCm38) missense probably damaging 1.00
BB008:Lrrc3b UTSW 14 15,358,018 (GRCm38) missense probably benign 0.36
BB018:Lrrc3b UTSW 14 15,358,018 (GRCm38) missense probably benign 0.36
PIT4810001:Lrrc3b UTSW 14 15,358,273 (GRCm38) missense probably benign 0.17
R0371:Lrrc3b UTSW 14 15,358,560 (GRCm38) nonsense probably null
R1750:Lrrc3b UTSW 14 15,358,601 (GRCm38) missense probably benign 0.00
R2280:Lrrc3b UTSW 14 15,358,076 (GRCm38) missense probably damaging 0.99
R4663:Lrrc3b UTSW 14 15,358,220 (GRCm38) missense probably benign 0.01
R4929:Lrrc3b UTSW 14 15,357,888 (GRCm38) missense probably damaging 1.00
R5344:Lrrc3b UTSW 14 15,358,591 (GRCm38) missense probably damaging 1.00
R6537:Lrrc3b UTSW 14 15,357,946 (GRCm38) missense probably damaging 1.00
R7301:Lrrc3b UTSW 14 15,357,934 (GRCm38) missense probably damaging 1.00
R7931:Lrrc3b UTSW 14 15,358,018 (GRCm38) missense probably benign 0.36
R8113:Lrrc3b UTSW 14 15,358,232 (GRCm38) missense probably benign 0.01
R8220:Lrrc3b UTSW 14 15,358,004 (GRCm38) missense probably damaging 1.00
R8834:Lrrc3b UTSW 14 15,358,562 (GRCm38) missense possibly damaging 0.95
R8955:Lrrc3b UTSW 14 15,358,159 (GRCm38) missense probably damaging 1.00
R9445:Lrrc3b UTSW 14 15,358,552 (GRCm38) missense probably damaging 1.00
R9522:Lrrc3b UTSW 14 15,358,423 (GRCm38) missense probably benign 0.15
Posted On 2016-08-02