Incidental Mutation 'IGL01646:Lrrc55'
ID102667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc55
Ensembl Gene ENSMUSG00000075224
Gene Nameleucine rich repeat containing 55
SynonymsLOC241528, A330097E02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01646
Quality Score
Status
Chromosome2
Chromosomal Location85162334-85196699 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85191989 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 286 (V286A)
Ref Sequence ENSEMBL: ENSMUSP00000107228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099930] [ENSMUST00000111601]
Predicted Effect probably damaging
Transcript: ENSMUST00000099930
AA Change: V286A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097514
Gene: ENSMUSG00000075224
AA Change: V286A

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
LRRNT 50 82 2.57e-7 SMART
LRR 103 124 3.29e-1 SMART
LRR 126 148 4.7e0 SMART
LRR 150 173 2.47e2 SMART
LRR 174 197 2.4e1 SMART
LRRCT 209 263 6.85e-9 SMART
transmembrane domain 272 294 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111601
AA Change: V286A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107228
Gene: ENSMUSG00000075224
AA Change: V286A

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
LRRNT 50 82 2.57e-7 SMART
LRR 103 124 3.29e-1 SMART
LRR 126 148 4.7e0 SMART
LRR 150 173 2.47e2 SMART
LRR 174 197 2.4e1 SMART
LRRCT 209 263 6.85e-9 SMART
transmembrane domain 272 294 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139377
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik T A 18: 57,667,345 C171* probably null Het
Ambp C T 4: 63,148,740 V188I probably benign Het
Bbs9 G T 9: 22,670,925 E638* probably null Het
Bmp6 A G 13: 38,498,928 M465V probably damaging Het
Cemip T C 7: 83,983,232 E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 Y200* probably null Het
Cox6b1 G T 7: 30,624,504 Y34* probably null Het
Cyp2d26 A C 15: 82,791,418 I303M probably benign Het
Diaph1 T A 18: 37,893,416 probably null Het
Dmp1 T C 5: 104,211,865 S136P probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Eea1 A G 10: 95,997,015 T241A probably damaging Het
Erap1 C A 13: 74,666,172 T25K probably damaging Het
Fras1 A G 5: 96,758,148 E3137G probably benign Het
Fryl C T 5: 73,022,501 probably null Het
Gldc T G 19: 30,100,765 D944A possibly damaging Het
Grm5 A G 7: 88,040,059 Y546C probably damaging Het
Igkv1-122 G A 6: 68,016,744 M1I probably null Het
Jag2 G A 12: 112,916,349 P380S possibly damaging Het
Kcnc2 T C 10: 112,272,406 probably null Het
Kmt2a T C 9: 44,825,484 probably benign Het
Mllt10 C A 2: 18,122,317 H82N probably damaging Het
Myh11 C A 16: 14,221,775 R837L probably damaging Het
Nsg1 C A 5: 38,155,691 D55Y probably damaging Het
Nup107 C A 10: 117,781,342 R221M probably damaging Het
Nup153 G T 13: 46,684,107 A1213D possibly damaging Het
Ovgp1 G A 3: 105,978,349 G174S probably damaging Het
Papss2 C T 19: 32,652,082 A357V probably benign Het
Pclo A G 5: 14,713,867 K4118R unknown Het
Pde2a T C 7: 101,507,711 I628T possibly damaging Het
Pla2r1 A G 2: 60,495,364 W521R probably damaging Het
Pld1 A T 3: 28,099,664 Q744L probably damaging Het
Pnpo T A 11: 96,938,949 E251V possibly damaging Het
Rdh10 C T 1: 16,108,022 H173Y possibly damaging Het
Sgpp2 A T 1: 78,416,896 I179F probably damaging Het
Slc11a1 C T 1: 74,384,740 P409L probably damaging Het
Slc35b4 T A 6: 34,158,429 N316I probably benign Het
Snrnp200 A G 2: 127,222,228 I712V probably benign Het
Spr T C 6: 85,134,240 D216G possibly damaging Het
Sri G A 5: 8,063,755 probably null Het
Tas2r124 T C 6: 132,755,369 S214P probably damaging Het
Tg T A 15: 66,678,087 S233T probably damaging Het
Tgfbr3 A T 5: 107,121,413 probably benign Het
Vmn2r45 A G 7: 8,483,338 F317S probably benign Het
Vmn2r99 C A 17: 19,393,658 probably benign Het
Zfp957 T C 14: 79,213,891 E156G probably benign Het
Other mutations in Lrrc55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Lrrc55 APN 2 85196215 missense possibly damaging 0.53
R0149:Lrrc55 UTSW 2 85196245 missense probably damaging 0.98
R0361:Lrrc55 UTSW 2 85196245 missense probably damaging 0.98
R0491:Lrrc55 UTSW 2 85191920 missense probably damaging 1.00
R4223:Lrrc55 UTSW 2 85196116 missense possibly damaging 0.82
R4654:Lrrc55 UTSW 2 85196536 missense possibly damaging 0.82
R4746:Lrrc55 UTSW 2 85196170 missense probably damaging 1.00
R5756:Lrrc55 UTSW 2 85196383 missense probably benign 0.34
R6329:Lrrc55 UTSW 2 85196309 missense probably benign 0.28
R6705:Lrrc55 UTSW 2 85196355 missense probably benign 0.33
R6985:Lrrc55 UTSW 2 85191930 missense probably benign 0.27
R7229:Lrrc55 UTSW 2 85196440 missense probably damaging 1.00
Posted On2014-01-21