Incidental Mutation 'R5344:Lrrc3b'
ID 422523
Institutional Source Beutler Lab
Gene Symbol Lrrc3b
Ensembl Gene ENSMUSG00000045201
Gene Name leucine rich repeat containing 3B
Synonyms LRP15
MMRRC Submission 042923-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5344 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 7030776-7112248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15358591 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 5 (D5G)
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: D5G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059463
Gene: ENSMUSG00000045201
AA Change: D5G

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: D5G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128624
Gene: ENSMUSG00000045201
AA Change: D5G

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: D5G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2095 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,289,801 (GRCm39) C1499G probably benign Het
Aldoart1 A G 4: 72,770,352 (GRCm39) V152A possibly damaging Het
Alms1 T C 6: 85,673,771 (GRCm39) L3591P probably benign Het
Ankrd12 A T 17: 66,356,843 (GRCm39) M58K probably damaging Het
Asb3 A C 11: 31,051,114 (GRCm39) I523L probably benign Het
Ascl2 T C 7: 142,522,436 (GRCm39) H4R possibly damaging Het
Asic2 T C 11: 80,862,413 (GRCm39) M246V probably damaging Het
Btc A T 5: 91,524,779 (GRCm39) C53S possibly damaging Het
Cdhr5 T C 7: 140,856,437 (GRCm39) I39M probably damaging Het
Cdkn3 T A 14: 47,004,807 (GRCm39) M123K possibly damaging Het
Cebpz A G 17: 79,233,542 (GRCm39) Y762H possibly damaging Het
Ces1g T A 8: 94,063,821 (GRCm39) probably benign Het
Cfap44 T C 16: 44,236,763 (GRCm39) probably null Het
Chd7 G T 4: 8,844,417 (GRCm39) G1537W probably damaging Het
Clca3a2 A T 3: 144,793,703 (GRCm39) D317E probably damaging Het
Clec3a C A 8: 115,149,712 (GRCm39) N56K probably damaging Het
Col11a1 T A 3: 114,002,011 (GRCm39) probably null Het
Cox20 G A 1: 178,149,598 (GRCm39) probably benign Het
Cyp2d22 A G 15: 82,255,839 (GRCm39) V471A possibly damaging Het
D630045J12Rik A G 6: 38,135,163 (GRCm39) V1339A probably damaging Het
Duox2 T C 2: 122,112,352 (GRCm39) D1278G probably benign Het
Epc1 G A 18: 6,450,614 (GRCm39) P284L probably benign Het
Evi5l G T 8: 4,235,990 (GRCm39) R61L possibly damaging Het
Fbln2 T C 6: 91,243,365 (GRCm39) Y914H probably damaging Het
Fbxo44 A G 4: 148,238,030 (GRCm39) S191P probably damaging Het
Fign A G 2: 63,809,569 (GRCm39) I567T probably benign Het
Fryl C T 5: 73,262,117 (GRCm39) R550K probably damaging Het
Gpcpd1 G A 2: 132,400,597 (GRCm39) probably benign Het
Hectd4 T C 5: 121,481,739 (GRCm39) I3096T probably benign Het
Hic2 T A 16: 17,075,712 (GRCm39) D180E probably benign Het
Ibtk A G 9: 85,617,057 (GRCm39) F172L possibly damaging Het
Itga1 A G 13: 115,138,845 (GRCm39) S369P possibly damaging Het
Itgb4 G A 11: 115,880,575 (GRCm39) R675Q probably null Het
Maml3 T A 3: 52,011,146 (GRCm39) D140V probably damaging Het
Med21 A G 6: 146,550,683 (GRCm39) T65A probably benign Het
Mta1 T C 12: 113,095,186 (GRCm39) probably benign Het
Mybpc1 T C 10: 88,406,430 (GRCm39) D152G probably damaging Het
Oas1b C A 5: 120,960,269 (GRCm39) Q325K probably benign Het
Or10j27 A G 1: 172,958,673 (GRCm39) L37P probably benign Het
Or2n1c C A 17: 38,519,995 (GRCm39) N286K probably damaging Het
Or5d44 A C 2: 88,141,334 (GRCm39) C269G probably benign Het
Pclo A G 5: 14,726,626 (GRCm39) probably benign Het
Phactr2 C T 10: 13,129,360 (GRCm39) V233I possibly damaging Het
Plekha2 A T 8: 25,533,063 (GRCm39) probably null Het
Reg3b A G 6: 78,349,843 (GRCm39) M128V probably benign Het
Rnaseh2a A G 8: 85,684,735 (GRCm39) probably benign Het
Scn5a T C 9: 119,363,073 (GRCm39) S516G probably benign Het
Serpina12 T A 12: 104,001,807 (GRCm39) probably null Het
Slc10a1 T C 12: 81,000,540 (GRCm39) T320A possibly damaging Het
Slc26a7 A T 4: 14,519,402 (GRCm39) D539E probably benign Het
Specc1l C A 10: 75,082,007 (GRCm39) R485S possibly damaging Het
Srp54b T G 12: 55,302,366 (GRCm39) I339S probably damaging Het
Tada1 G A 1: 166,207,081 (GRCm39) probably benign Het
Trim16 T C 11: 62,711,751 (GRCm39) C54R probably damaging Het
Trio C T 15: 27,735,618 (GRCm39) R2824Q probably benign Het
Ttpa A G 4: 20,021,245 (GRCm39) I138V probably damaging Het
Ubap2 A C 4: 41,251,578 (GRCm39) M18R possibly damaging Het
Usp38 A G 8: 81,712,392 (GRCm39) S548P possibly damaging Het
Vmn2r73 T C 7: 85,525,046 (GRCm39) D34G probably benign Het
Vps13d T A 4: 144,904,904 (GRCm39) H74L probably damaging Het
Zfp408 C T 2: 91,475,588 (GRCm39) C622Y probably benign Het
Zfp616 T C 11: 73,975,321 (GRCm39) I530T possibly damaging Het
Zfp9 C A 6: 118,442,140 (GRCm39) C174F probably damaging Het
Zfyve16 A G 13: 92,658,096 (GRCm39) I605T possibly damaging Het
Zmym5 T C 14: 57,031,519 (GRCm39) T530A probably damaging Het
Other mutations in Lrrc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Lrrc3b APN 14 15,358,098 (GRCm38) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGGAGATCTCTGGGTATTTCC -3'
(R):5'- CCATGCATGTCTCCTCACAG -3'

Sequencing Primer
(F):5'- CCTTGAGATTTGCATTGCTACAG -3'
(R):5'- TGTCTCCTCACAGAAAAGCTAATTGC -3'
Posted On 2016-08-04