Incidental Mutation 'IGL03141:Lrrc3b'
ID410698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc3b
Ensembl Gene ENSMUSG00000045201
Gene Nameleucine rich repeat containing 3B
SynonymsLRP15
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03141
Quality Score
Status
Chromosome14
Chromosomal Location15357515-15438987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 15358390 bp
ZygosityHeterozygous
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]
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: 89,323,328 I14T probably benign Het
AY761185 G A 8: 20,944,560 R51C possibly damaging Het
Cenpt T A 8: 105,851,941 T15S probably damaging Het
Cotl1 T C 8: 119,810,283 K131E possibly damaging Het
D5Ertd579e T A 5: 36,613,277 D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 I88K probably damaging Het
Gm11639 T C 11: 105,095,870 S5408P probably damaging Het
Gsto2 T C 19: 47,874,873 Y63H probably damaging Het
Lrp2 A T 2: 69,477,026 D2896E probably damaging Het
Npas1 T C 7: 16,465,138 E164G probably damaging Het
Olfr308 T A 7: 86,321,701 I84F probably damaging Het
Parp14 C A 16: 35,839,293 R1653L probably benign Het
Polq A G 16: 37,017,358 probably benign Het
Sec31b A T 19: 44,526,320 probably benign Het
Slc7a11 C T 3: 50,381,885 A337T possibly damaging Het
Snapc3 A G 4: 83,435,286 I187M probably damaging Het
Sorcs2 T C 5: 36,065,355 E352G probably benign Het
Spout1 A C 2: 30,175,055 V311G probably damaging Het
Syne1 T A 10: 5,424,261 K182M probably damaging Het
Vmn2r110 A G 17: 20,583,714 S200P possibly damaging Het
Other mutations in Lrrc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Lrrc3b APN 14 15358098 missense probably benign 0.00
Klutz UTSW 14 15357946 missense probably damaging 1.00
BB008:Lrrc3b UTSW 14 15358018 missense probably benign 0.36
BB018:Lrrc3b UTSW 14 15358018 missense probably benign 0.36
PIT4810001:Lrrc3b UTSW 14 15358273 missense probably benign 0.17
R0371:Lrrc3b UTSW 14 15358560 nonsense probably null
R1750:Lrrc3b UTSW 14 15358601 missense probably benign 0.00
R2280:Lrrc3b UTSW 14 15358076 missense probably damaging 0.99
R4663:Lrrc3b UTSW 14 15358220 missense probably benign 0.01
R4929:Lrrc3b UTSW 14 15357888 missense probably damaging 1.00
R5344:Lrrc3b UTSW 14 15358591 missense probably damaging 1.00
R6537:Lrrc3b UTSW 14 15357946 missense probably damaging 1.00
R7301:Lrrc3b UTSW 14 15357934 missense probably damaging 1.00
R7931:Lrrc3b UTSW 14 15358018 missense probably benign 0.36
R8113:Lrrc3b UTSW 14 15358232 missense probably benign 0.01
R8220:Lrrc3b UTSW 14 15358004 missense probably damaging 1.00
Posted On2016-08-02