Incidental Mutation 'IGL00861:Lrrc72'
ID11836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc72
Ensembl Gene ENSMUSG00000020545
Gene Nameleucine rich repeat containing 72
Synonyms1700108M19Rik, 4933421E18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00861
Quality Score
Status
Chromosome12
Chromosomal Location36208345-36253398 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36221508 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 138 (Q138L)
Ref Sequence ENSEMBL: ENSMUSP00000152732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020853] [ENSMUST00000122115] [ENSMUST00000221155]
Predicted Effect probably benign
Transcript: ENSMUST00000020853
Predicted Effect probably benign
Transcript: ENSMUST00000122115
AA Change: Q8L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113517
Gene: ENSMUSG00000020545
AA Change: Q8L

DomainStartEndE-ValueType
Pfam:LRR_9 1 69 6.6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152817
Predicted Effect probably benign
Transcript: ENSMUST00000221155
AA Change: Q138L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222145
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,323,285 probably benign Het
Ambra1 T A 2: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Glmn A T 5: 107,570,139 M304K possibly damaging Het
Klra6 A G 6: 130,023,700 V47A possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Nxph2 T A 2: 23,399,962 F109I probably damaging Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Lrrc72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Lrrc72 APN 12 36212562 splice site probably null
R1905:Lrrc72 UTSW 12 36208662 splice site probably null
R3754:Lrrc72 UTSW 12 36212568 missense probably benign 0.04
R4429:Lrrc72 UTSW 12 36208624 missense probably damaging 1.00
R6263:Lrrc72 UTSW 12 36208604 nonsense probably null
R6895:Lrrc72 UTSW 12 36209718 missense probably damaging 0.99
R7263:Lrrc72 UTSW 12 36208612 missense probably damaging 1.00
R7410:Lrrc72 UTSW 12 36222804 missense probably damaging 1.00
R7452:Lrrc72 UTSW 12 36212693 missense probably benign 0.11
R8217:Lrrc72 UTSW 12 36208677 missense probably damaging 1.00
V8831:Lrrc72 UTSW 12 36208657 missense possibly damaging 0.65
Z1177:Lrrc72 UTSW 12 36247693 critical splice acceptor site probably null
Posted On2012-12-06