Incidental Mutation 'IGL02632:Lrrc71'
ID301365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc71
Ensembl Gene ENSMUSG00000023084
Gene Nameleucine rich repeat containing 71
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02632
Quality Score
Status
Chromosome3
Chromosomal Location87736923-87748625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87743340 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 205 (N205S)
Ref Sequence ENSEMBL: ENSMUSP00000023846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000174267]
Predicted Effect probably damaging
Transcript: ENSMUST00000023846
AA Change: N205S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: N205S

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Blast:LRR 165 191 6e-7 BLAST
LRR 219 246 4.24e-1 SMART
LRR 251 278 1.33e-1 SMART
LRR 279 306 1.98e-4 SMART
low complexity region 312 323 N/A INTRINSIC
low complexity region 329 337 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 407 414 N/A INTRINSIC
LRR 472 499 1.83e2 SMART
low complexity region 547 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174208
Predicted Effect probably benign
Transcript: ENSMUST00000174267
SMART Domains Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174381
Predicted Effect probably benign
Transcript: ENSMUST00000174581
SMART Domains Protein: ENSMUSP00000134711
Gene: ENSMUSG00000023084

DomainStartEndE-ValueType
Blast:LRR 67 94 1e-10 BLAST
low complexity region 142 152 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 40,755,200 V501A possibly damaging Het
Alpl T G 4: 137,753,906 N145T probably damaging Het
Aqp5 T A 15: 99,593,335 probably benign Het
Armc4 A G 18: 7,214,727 probably benign Het
Atp1a2 T A 1: 172,280,614 D640V possibly damaging Het
Atp5o T C 16: 91,928,942 E49G probably benign Het
Card14 A G 11: 119,338,904 D747G probably benign Het
Cpz A T 5: 35,511,811 D325E possibly damaging Het
Crim1 T C 17: 78,372,674 I948T probably benign Het
Dpysl3 A T 18: 43,393,025 S2T possibly damaging Het
Fat4 T C 3: 39,002,764 V4203A probably benign Het
Gapvd1 G A 2: 34,684,174 probably benign Het
Gm7173 A T X: 79,496,673 L553H probably damaging Het
Gpatch2 A G 1: 187,225,981 R155G probably damaging Het
Grpr A T X: 163,515,094 V318E probably damaging Het
Hipk1 T C 3: 103,760,545 T569A probably benign Het
Il3ra G A 14: 14,350,807 probably null Het
Llgl2 A G 11: 115,844,872 H98R probably damaging Het
Loxhd1 A G 18: 77,405,932 D663G probably damaging Het
Mamdc2 C T 19: 23,330,976 E521K probably benign Het
Mapre2 A G 18: 23,858,160 M162V probably benign Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mib2 T C 4: 155,655,579 D739G probably damaging Het
Mroh2b T C 15: 4,931,101 F772S probably damaging Het
Mtss1 C T 15: 58,944,015 M565I probably damaging Het
Myt1l T G 12: 29,914,293 S1077A unknown Het
Nalcn T C 14: 123,317,853 T873A probably benign Het
Nwd1 T A 8: 72,667,454 H448Q possibly damaging Het
Olfr1052 T C 2: 86,298,560 V248A probably damaging Het
Olfr114 T C 17: 37,590,341 E4G probably benign Het
Olfr631 A G 7: 103,929,707 I295V possibly damaging Het
Palld C T 8: 61,515,245 E1096K probably damaging Het
Pdcd2 A G 17: 15,521,792 V292A probably damaging Het
Pde2a A G 7: 101,504,656 Y477C probably damaging Het
Pramef25 A G 4: 143,949,937 I199T possibly damaging Het
Rcbtb1 T C 14: 59,224,682 L254P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsl1 A C 13: 67,182,163 H225P probably damaging Het
Sec14l2 T C 11: 4,111,222 I80V probably benign Het
Sema6a G T 18: 47,290,155 D261E probably damaging Het
Serpinb9b T A 13: 33,039,823 S333T probably benign Het
Slc24a4 T C 12: 102,234,682 V277A probably benign Het
Snap91 T A 9: 86,839,522 H88L possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmprss15 T A 16: 78,985,902 N758I probably damaging Het
Ube3b C T 5: 114,398,841 A300V probably benign Het
Vmn2r82 G A 10: 79,356,708 V40I probably benign Het
Vsig4 G T X: 96,247,772 Q265K probably benign Het
Wdr91 T C 6: 34,889,042 D525G probably damaging Het
Other mutations in Lrrc71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Lrrc71 APN 3 87745224 splice site probably null
IGL02387:Lrrc71 APN 3 87743071 missense probably damaging 0.96
IGL02701:Lrrc71 APN 3 87741772 missense probably benign 0.37
R0372:Lrrc71 UTSW 3 87745777 missense probably benign 0.40
R0505:Lrrc71 UTSW 3 87745699 missense probably damaging 0.98
R0827:Lrrc71 UTSW 3 87742645 splice site probably null
R1511:Lrrc71 UTSW 3 87745484 missense probably benign 0.00
R1541:Lrrc71 UTSW 3 87741841 missense possibly damaging 0.87
R1987:Lrrc71 UTSW 3 87742643 missense probably benign 0.25
R2054:Lrrc71 UTSW 3 87742673 missense probably damaging 1.00
R2143:Lrrc71 UTSW 3 87745521 nonsense probably null
R2427:Lrrc71 UTSW 3 87746002 missense probably benign
R3700:Lrrc71 UTSW 3 87745878 splice site probably null
R4073:Lrrc71 UTSW 3 87745262 missense probably benign 0.01
R4231:Lrrc71 UTSW 3 87740991 missense probably benign 0.01
R4431:Lrrc71 UTSW 3 87742836 missense possibly damaging 0.59
R4477:Lrrc71 UTSW 3 87742665 missense probably damaging 0.99
R4562:Lrrc71 UTSW 3 87745408 unclassified probably benign
R4563:Lrrc71 UTSW 3 87745408 unclassified probably benign
R4564:Lrrc71 UTSW 3 87745408 unclassified probably benign
R4724:Lrrc71 UTSW 3 87739174 missense probably damaging 0.97
R4826:Lrrc71 UTSW 3 87743308 missense probably benign 0.33
R5156:Lrrc71 UTSW 3 87745787 missense probably benign 0.07
R5631:Lrrc71 UTSW 3 87739149 missense probably benign 0.00
R6182:Lrrc71 UTSW 3 87745794 missense probably benign 0.41
R6558:Lrrc71 UTSW 3 87742643 missense probably benign 0.25
R6885:Lrrc71 UTSW 3 87742620 splice site probably null
R7036:Lrrc71 UTSW 3 87748386 missense probably benign 0.00
R7199:Lrrc71 UTSW 3 87743077 missense probably damaging 1.00
R7211:Lrrc71 UTSW 3 87743326 missense possibly damaging 0.92
R7634:Lrrc71 UTSW 3 87742974 missense probably damaging 1.00
R7638:Lrrc71 UTSW 3 87741806 missense probably damaging 1.00
R7695:Lrrc71 UTSW 3 87739462 missense probably damaging 1.00
Z1177:Lrrc71 UTSW 3 87742821 missense probably benign 0.01
Posted On2015-04-16