Incidental Mutation 'IGL00543:Hps5'
ID5245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hps5
Ensembl Gene ENSMUSG00000014418
Gene NameHPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Synonymsru-2, ru2, ruby eye 2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL00543
Quality Score
Status
Chromosome7
Chromosomal Location46760466-46796064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46778073 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 338 (D338G)
Ref Sequence ENSEMBL: ENSMUSP00000103280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014562] [ENSMUST00000107653] [ENSMUST00000107654] [ENSMUST00000142663] [ENSMUST00000211347]
Predicted Effect probably benign
Transcript: ENSMUST00000014562
AA Change: D371G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000014562
Gene: ENSMUSG00000014418
AA Change: D371G

DomainStartEndE-ValueType
SCOP:d1jjub_ 44 192 3e-8 SMART
Blast:WD40 63 103 7e-21 BLAST
Blast:WD40 111 151 1e-19 BLAST
low complexity region 429 449 N/A INTRINSIC
low complexity region 775 786 N/A INTRINSIC
low complexity region 989 998 N/A INTRINSIC
low complexity region 1021 1033 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107653
AA Change: D338G

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103280
Gene: ENSMUSG00000014418
AA Change: D338G

DomainStartEndE-ValueType
SCOP:d1jjub_ 44 192 3e-8 SMART
Blast:WD40 63 103 6e-21 BLAST
Blast:WD40 111 151 1e-19 BLAST
low complexity region 396 416 N/A INTRINSIC
low complexity region 742 753 N/A INTRINSIC
low complexity region 956 965 N/A INTRINSIC
low complexity region 988 1000 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107654
AA Change: D371G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103281
Gene: ENSMUSG00000014418
AA Change: D371G

DomainStartEndE-ValueType
SCOP:d1jjub_ 44 192 3e-8 SMART
Blast:WD40 63 103 7e-21 BLAST
Blast:WD40 111 151 1e-19 BLAST
low complexity region 429 449 N/A INTRINSIC
low complexity region 775 786 N/A INTRINSIC
low complexity region 989 998 N/A INTRINSIC
low complexity region 1021 1033 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142663
AA Change: D371G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122887
Gene: ENSMUSG00000014418
AA Change: D371G

DomainStartEndE-ValueType
SCOP:d1jjub_ 44 192 8e-8 SMART
Blast:WD40 63 103 9e-20 BLAST
Blast:WD40 111 151 2e-19 BLAST
low complexity region 429 449 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145776
Predicted Effect probably benign
Transcript: ENSMUST00000153789
SMART Domains Protein: ENSMUSP00000119876
Gene: ENSMUSG00000014418

DomainStartEndE-ValueType
low complexity region 241 252 N/A INTRINSIC
low complexity region 417 426 N/A INTRINSIC
low complexity region 449 461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157026
Predicted Effect probably benign
Transcript: ENSMUST00000211347
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530003J23Rik G T 10: 117,238,447 T45K probably benign Het
Acvr1c A G 2: 58,315,823 C42R probably damaging Het
Adamts1 T C 16: 85,795,573 H649R probably benign Het
Capn3 T C 2: 120,486,482 probably benign Het
Cd44 T C 2: 102,855,947 T135A possibly damaging Het
Cntnap5c T A 17: 58,294,350 I831N probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Epx T C 11: 87,869,925 R394G probably damaging Het
Fam129b T A 2: 32,912,471 F158Y probably benign Het
Ikbkg T C X: 74,432,860 V14A probably damaging Het
Lrp1b A G 2: 41,468,948 F638L possibly damaging Het
Mak A T 13: 41,055,713 Y87N probably damaging Het
Morc2a T A 11: 3,680,283 I493N probably damaging Het
Msl2 T A 9: 101,101,070 H214Q probably benign Het
Myom3 A C 4: 135,762,571 T18P possibly damaging Het
Ndst3 G T 3: 123,672,263 T20N probably damaging Het
Nelfe T A 17: 34,853,616 S124T possibly damaging Het
Nlgn1 T G 3: 25,433,781 T797P probably damaging Het
Pcdh18 T C 3: 49,753,379 D414G probably damaging Het
Pde4dip T C 3: 97,757,624 S386G possibly damaging Het
Ppig T A 2: 69,749,716 H531Q unknown Het
Ppm1n T C 7: 19,278,184 Y348C probably benign Het
Rdh9 T C 10: 127,790,984 V302A probably benign Het
Serpinb3b A G 1: 107,157,666 probably null Het
Slc39a10 A G 1: 46,819,057 probably benign Het
Other mutations in Hps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Hps5 APN 7 46775938 missense probably damaging 1.00
IGL01090:Hps5 APN 7 46788327 missense probably benign 0.02
IGL01351:Hps5 APN 7 46761432 missense probably damaging 1.00
IGL01479:Hps5 APN 7 46762942 critical splice donor site probably null
IGL02056:Hps5 APN 7 46788182 missense probably damaging 1.00
IGL02117:Hps5 APN 7 46783516 missense probably damaging 1.00
IGL02210:Hps5 APN 7 46786570 missense probably benign 0.03
IGL02967:Hps5 APN 7 46769380 missense possibly damaging 0.69
IGL03046:Hps5 APN 7 46777039 splice site probably benign
IGL03187:Hps5 APN 7 46773207 missense probably damaging 1.00
IGL03259:Hps5 APN 7 46763102 missense probably damaging 0.99
dorian_gray UTSW 7 46784145 unclassified probably benign
smoky UTSW 7 46769351 nonsense probably null
Titan UTSW 7 46783469 critical splice donor site probably null
toffee UTSW 7 46777075 intron probably benign
wombat UTSW 7 46783634 missense probably damaging 1.00
R0068:Hps5 UTSW 7 46777042 splice site probably benign
R0068:Hps5 UTSW 7 46777042 splice site probably benign
R0141:Hps5 UTSW 7 46789181 missense probably damaging 1.00
R0383:Hps5 UTSW 7 46769288 splice site probably null
R0402:Hps5 UTSW 7 46790909 splice site probably benign
R0684:Hps5 UTSW 7 46783469 critical splice donor site probably null
R1159:Hps5 UTSW 7 46772554 unclassified probably null
R1938:Hps5 UTSW 7 46773267 missense probably damaging 1.00
R2058:Hps5 UTSW 7 46768051 missense probably damaging 1.00
R3613:Hps5 UTSW 7 46776874 critical splice donor site probably null
R3881:Hps5 UTSW 7 46771996 missense possibly damaging 0.54
R3882:Hps5 UTSW 7 46771996 missense possibly damaging 0.54
R3914:Hps5 UTSW 7 46783526 missense probably damaging 1.00
R4095:Hps5 UTSW 7 46775794 missense probably benign 0.01
R4457:Hps5 UTSW 7 46783613 missense probably benign 0.00
R4739:Hps5 UTSW 7 46786589 missense probably benign
R4838:Hps5 UTSW 7 46788354 missense probably damaging 1.00
R4934:Hps5 UTSW 7 46769351 nonsense probably null
R5876:Hps5 UTSW 7 46789196 missense probably damaging 1.00
R6056:Hps5 UTSW 7 46767097 missense probably benign 0.00
R6129:Hps5 UTSW 7 46771774 missense probably benign
R6878:Hps5 UTSW 7 46783634 missense probably damaging 1.00
X0021:Hps5 UTSW 7 46763093 missense probably damaging 1.00
Posted On2012-04-20