Incidental Mutation 'IGL01761:Lrrc3b'
ID153559
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 #IGL01761
Quality Score
Status
Chromosome14
Chromosomal Location15357515-15438987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 15358098 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 169 (N169K)
Ref Sequence ENSEMBL: ENSMUSP00000153616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055211] [ENSMUST00000163937] [ENSMUST00000223700]
Predicted Effect probably benign
Transcript: ENSMUST00000055211
AA Change: N169K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: N169K

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 benign
Transcript: ENSMUST00000163937
AA Change: N169K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: N169K

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 benign
Transcript: ENSMUST00000223700
AA Change: N169K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T C 17: 36,978,807 T44A probably damaging Het
A2ml1 T A 6: 128,546,337 Q1212L possibly damaging Het
A530064D06Rik T C 17: 48,152,959 S190G possibly damaging Het
AA986860 A G 1: 130,742,722 H227R possibly damaging Het
Ace C A 11: 105,979,493 A826E possibly damaging Het
Amigo3 G A 9: 108,053,402 G8D possibly damaging Het
Angpt1 A T 15: 42,476,467 F283I possibly damaging Het
Arhgef5 T C 6: 43,274,604 L763P probably benign Het
Atr T C 9: 95,951,448 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
C4b T A 17: 34,739,938 M506L possibly damaging Het
Cdc25a T C 9: 109,891,865 probably benign Het
Dcaf17 T C 2: 71,056,537 S57P probably damaging Het
Dph5 T A 3: 115,899,713 D93E probably damaging Het
Fam169a A G 13: 97,091,918 E33G possibly damaging Het
Fam193b G A 13: 55,549,257 T340I probably benign Het
Glod4 T C 11: 76,243,602 N15D probably benign Het
Inpp5k A G 11: 75,647,677 E102G possibly damaging Het
Kif27 A T 13: 58,337,645 D500E probably benign Het
Lmntd1 A G 6: 145,433,722 I15T possibly damaging Het
Lrp2 C T 2: 69,481,235 R2633H possibly damaging Het
Lrp4 G A 2: 91,481,981 probably null Het
March7 T C 2: 60,234,195 S272P probably benign Het
Mier2 A G 10: 79,548,352 probably null Het
Myo9b G A 8: 71,349,152 S1307N probably damaging Het
Olfr1220 G T 2: 89,097,544 P128T probably damaging Het
Olfr494 T G 7: 108,368,318 V276G probably damaging Het
Phkb A T 8: 86,019,064 M629L probably benign Het
Rergl C A 6: 139,501,865 V4F probably damaging Het
Rgs22 A T 15: 36,103,751 I188N probably damaging Het
Rgs3 G T 4: 62,652,709 probably benign Het
Rpl4 T A 9: 64,174,939 V40D probably damaging Het
Sox4 A T 13: 28,952,807 I72N possibly damaging Het
Syne1 A C 10: 5,405,456 V375G probably damaging Het
Tfrc G T 16: 32,628,551 D662Y probably damaging Het
Ubqln5 T C 7: 104,128,427 R397G possibly damaging Het
Unc13d T C 11: 116,073,869 D257G probably damaging Het
Vmn1r160 A T 7: 22,871,443 N74Y probably damaging Het
Vmn1r168 T A 7: 23,541,645 I309N possibly damaging Het
Vmn1r20 T C 6: 57,431,740 L17P probably damaging Het
Wdr19 A G 5: 65,215,820 I142V possibly damaging Het
Zan A T 5: 137,425,597 I2680N unknown Het
Zbtb20 T C 16: 43,610,661 F512L possibly damaging Het
Other mutations in Lrrc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03141:Lrrc3b APN 14 15358390 missense probably damaging 1.00
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 On2014-02-04