Incidental Mutation 'IGL01761:Lrrc3b'
ID 153559
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 # IGL01761
Quality Score
Status
Chromosome 14
Chromosomal Location 7030776-7112248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15358098 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold Q8VCH9
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: 37,289,699 (GRCm39) T44A probably damaging Het
A2ml1 T A 6: 128,523,300 (GRCm39) Q1212L possibly damaging Het
A530064D06Rik T C 17: 48,460,127 (GRCm39) S190G possibly damaging Het
AA986860 A G 1: 130,670,459 (GRCm39) H227R possibly damaging Het
Ace C A 11: 105,870,319 (GRCm39) A826E possibly damaging Het
Amigo3 G A 9: 107,930,601 (GRCm39) G8D possibly damaging Het
Angpt1 A T 15: 42,339,863 (GRCm39) F283I possibly damaging Het
Arhgef5 T C 6: 43,251,538 (GRCm39) L763P probably benign Het
Atr T C 9: 95,833,501 (GRCm39) probably benign Het
C4b T A 17: 34,958,912 (GRCm39) M506L possibly damaging Het
Cdc25a T C 9: 109,720,933 (GRCm39) probably benign Het
Dcaf17 T C 2: 70,886,881 (GRCm39) S57P probably damaging Het
Dph5 T A 3: 115,693,362 (GRCm39) D93E probably damaging Het
Fam169a A G 13: 97,228,426 (GRCm39) E33G possibly damaging Het
Fam193b G A 13: 55,697,070 (GRCm39) T340I probably benign Het
Glod4 T C 11: 76,134,428 (GRCm39) N15D probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Inpp5k A G 11: 75,538,503 (GRCm39) E102G possibly damaging Het
Kif27 A T 13: 58,485,459 (GRCm39) D500E probably benign Het
Lmntd1 A G 6: 145,379,448 (GRCm39) I15T possibly damaging Het
Lrp2 C T 2: 69,311,579 (GRCm39) R2633H possibly damaging Het
Lrp4 G A 2: 91,312,326 (GRCm39) probably null Het
Marchf7 T C 2: 60,064,539 (GRCm39) S272P probably benign Het
Mier2 A G 10: 79,384,186 (GRCm39) probably null Het
Myo9b G A 8: 71,801,796 (GRCm39) S1307N probably damaging Het
Or4c115 G T 2: 88,927,888 (GRCm39) P128T probably damaging Het
Or5p69 T G 7: 107,967,525 (GRCm39) V276G probably damaging Het
Phkb A T 8: 86,745,693 (GRCm39) M629L probably benign Het
Rergl C A 6: 139,478,863 (GRCm39) V4F probably damaging Het
Rgs22 A T 15: 36,103,897 (GRCm39) I188N probably damaging Het
Rgs3 G T 4: 62,570,946 (GRCm39) probably benign Het
Rpl4 T A 9: 64,082,221 (GRCm39) V40D probably damaging Het
Sox4 A T 13: 29,136,790 (GRCm39) I72N possibly damaging Het
Syne1 A C 10: 5,355,456 (GRCm39) V375G probably damaging Het
Tfrc G T 16: 32,447,369 (GRCm39) D662Y probably damaging Het
Ubqln5 T C 7: 103,777,634 (GRCm39) R397G possibly damaging Het
Unc13d T C 11: 115,964,695 (GRCm39) D257G probably damaging Het
Vmn1r160 A T 7: 22,570,868 (GRCm39) N74Y probably damaging Het
Vmn1r168 T A 7: 23,241,070 (GRCm39) I309N possibly damaging Het
Vmn1r20 T C 6: 57,408,725 (GRCm39) L17P probably damaging Het
Wdr19 A G 5: 65,373,163 (GRCm39) I142V possibly damaging Het
Zan A T 5: 137,423,859 (GRCm39) I2680N unknown Het
Zbtb20 T C 16: 43,431,024 (GRCm39) F512L possibly damaging Het
Other mutations in Lrrc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03141:Lrrc3b APN 14 15,358,390 (GRCm38) missense probably damaging 1.00
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 2014-02-04