Incidental Mutation 'IGL02489:Lrrc27'
ID295556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc27
Ensembl Gene ENSMUSG00000015980
Gene Nameleucine rich repeat containing 27
Synonyms1700071K18Rik, 2310044E02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02489
Quality Score
Status
Chromosome7
Chromosomal Location139212988-139242979 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 139226061 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 214 (R214L)
Ref Sequence ENSEMBL: ENSMUSP00000101710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016124] [ENSMUST00000106104] [ENSMUST00000135509]
Predicted Effect probably benign
Transcript: ENSMUST00000016124
AA Change: R214L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000016124
Gene: ENSMUSG00000015980
AA Change: R214L

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
LRR_TYP 75 98 1.03e-2 SMART
LRR_TYP 99 122 3.69e-4 SMART
LRR 123 145 7.38e1 SMART
low complexity region 271 283 N/A INTRINSIC
coiled coil region 336 370 N/A INTRINSIC
coiled coil region 463 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106104
AA Change: R214L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101710
Gene: ENSMUSG00000015980
AA Change: R214L

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
LRR_TYP 75 98 1.03e-2 SMART
LRR_TYP 99 122 3.69e-4 SMART
LRR 123 145 7.38e1 SMART
low complexity region 271 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130248
Predicted Effect probably benign
Transcript: ENSMUST00000135509
SMART Domains Protein: ENSMUSP00000116827
Gene: ENSMUSG00000015980

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Aldh6a1 T C 12: 84,433,972 T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Arhgef37 A G 18: 61,506,469 S280P possibly damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Ctsa A G 2: 164,838,645 Y402C probably damaging Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Gm10100 G A 10: 77,726,811 C109Y probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Rnf182 T C 13: 43,668,303 L110P probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Slc5a3 T A 16: 92,077,705 Y217N possibly damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Lrrc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Lrrc27 APN 7 139227911 intron probably benign
IGL02095:Lrrc27 APN 7 139230253 missense probably benign 0.04
IGL03080:Lrrc27 APN 7 139230237 missense probably benign 0.03
R0372:Lrrc27 UTSW 7 139226187 missense probably benign 0.17
R1466:Lrrc27 UTSW 7 139230308 unclassified probably benign
R2401:Lrrc27 UTSW 7 139223613 missense probably damaging 1.00
R2876:Lrrc27 UTSW 7 139228684 intron probably benign
R3113:Lrrc27 UTSW 7 139218307 missense probably damaging 1.00
R4214:Lrrc27 UTSW 7 139223693 missense probably damaging 1.00
R4707:Lrrc27 UTSW 7 139242698 missense probably benign 0.02
R4784:Lrrc27 UTSW 7 139242698 missense probably benign 0.02
R5070:Lrrc27 UTSW 7 139214799 missense probably damaging 0.99
R5855:Lrrc27 UTSW 7 139218335 unclassified probably benign
R6408:Lrrc27 UTSW 7 139218268 missense probably benign 0.14
R6993:Lrrc27 UTSW 7 139242624 missense probably damaging 0.99
R7332:Lrrc27 UTSW 7 139242745 missense probably damaging 1.00
R7350:Lrrc27 UTSW 7 139226106 missense probably benign 0.01
R7460:Lrrc27 UTSW 7 139223658 missense probably damaging 1.00
R7502:Lrrc27 UTSW 7 139214832 missense probably benign
R8020:Lrrc27 UTSW 7 139236877 missense probably damaging 1.00
R8071:Lrrc27 UTSW 7 139236986 missense probably benign 0.01
R8518:Lrrc27 UTSW 7 139228774 missense probably benign 0.01
RF018:Lrrc27 UTSW 7 139226100 missense probably benign 0.03
X0065:Lrrc27 UTSW 7 139230245 missense probably benign 0.00
X0065:Lrrc27 UTSW 7 139230246 missense probably benign 0.00
Z1176:Lrrc27 UTSW 7 139242720 missense probably damaging 1.00
Posted On2015-04-16