Incidental Mutation 'IGL02210:Hps5'
ID 284676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hps5
Ensembl Gene ENSMUSG00000014418
Gene Name HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Synonyms Hermansky-Pudlak syndrome 5, ru-2, ru2, ruby eye 2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL02210
Quality Score
Status
Chromosome 7
Chromosomal Location 46409890-46445488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46435994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 184 (Y184C)
Ref Sequence ENSEMBL: ENSMUSP00000122887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014562] [ENSMUST00000107653] [ENSMUST00000107654] [ENSMUST00000123725] [ENSMUST00000142663] [ENSMUST00000152759] [ENSMUST00000211347]
AlphaFold P59438
Predicted Effect probably benign
Transcript: ENSMUST00000014562
AA Change: Y184C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000014562
Gene: ENSMUSG00000014418
AA Change: Y184C

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: Y184C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103280
Gene: ENSMUSG00000014418
AA Change: Y184C

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: Y184C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103281
Gene: ENSMUSG00000014418
AA Change: Y184C

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: ENSMUST00000123725
SMART Domains Protein: ENSMUSP00000116770
Gene: ENSMUSG00000014418

DomainStartEndE-ValueType
SCOP:d1tbga_ 24 107 5e-4 SMART
Blast:WD40 63 103 1e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000142663
AA Change: Y184C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122887
Gene: ENSMUSG00000014418
AA Change: Y184C

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: ENSMUST00000152759
AA Change: Y184C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115786
Gene: ENSMUSG00000014418
AA Change: Y184C

DomainStartEndE-ValueType
SCOP:d1jjub_ 44 192 2e-8 SMART
Blast:WD40 63 103 1e-21 BLAST
Blast:WD40 111 151 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000211347
AA Change: Y184C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211528
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,097 (GRCm39) F215S probably damaging Het
Acvr2a A T 2: 48,788,538 (GRCm39) H422L probably damaging Het
Adcy6 T C 15: 98,492,852 (GRCm39) Y908C possibly damaging Het
Alyref A C 11: 120,488,499 (GRCm39) S110A possibly damaging Het
Ankrd1 T C 19: 36,095,714 (GRCm39) D86G probably damaging Het
Anpep T A 7: 79,476,652 (GRCm39) Y29F probably benign Het
Appl1 T C 14: 26,647,909 (GRCm39) probably benign Het
Arrdc5 T C 17: 56,607,026 (GRCm39) D73G probably damaging Het
Atp12a T A 14: 56,609,201 (GRCm39) Y142* probably null Het
Clec4a3 T A 6: 122,931,067 (GRCm39) I52N probably damaging Het
Cmya5 G A 13: 93,229,242 (GRCm39) P1949S probably benign Het
Crybb2 T A 5: 113,206,253 (GRCm39) Q194L probably damaging Het
Dmxl2 A C 9: 54,311,333 (GRCm39) L1796R probably damaging Het
Ecm1 A G 3: 95,643,289 (GRCm39) F337S probably damaging Het
F5 T C 1: 164,017,710 (GRCm39) S596P probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Gm5070 T G 3: 95,317,936 (GRCm39) noncoding transcript Het
Letmd1 T C 15: 100,367,128 (GRCm39) probably null Het
Lipo5 A T 19: 33,445,277 (GRCm39) N97K unknown Het
Mis18bp1 A T 12: 65,183,605 (GRCm39) Y922* probably null Het
Mob3c C A 4: 115,690,952 (GRCm39) H181N probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Nav3 T C 10: 109,602,851 (GRCm39) T1233A probably benign Het
Nherf4 T G 9: 44,159,614 (GRCm39) T461P probably benign Het
Or12e8 T A 2: 87,188,347 (GRCm39) D186E probably damaging Het
Or12k8 G T 2: 36,975,631 (GRCm39) T43N possibly damaging Het
Pcnt T C 10: 76,225,053 (GRCm39) E1817G possibly damaging Het
Pgap4 A G 4: 49,586,686 (GRCm39) Y161H probably benign Het
Phc3 A G 3: 30,990,858 (GRCm39) V420A probably damaging Het
Plekhn1 A T 4: 156,308,106 (GRCm39) C316S probably damaging Het
Ppp1cb T A 5: 32,640,818 (GRCm39) probably benign Het
Slc29a4 T C 5: 142,704,534 (GRCm39) Y359H probably damaging Het
Sspo T C 6: 48,477,426 (GRCm39) I4982T probably damaging Het
Sstr4 T A 2: 148,238,229 (GRCm39) L280Q probably damaging Het
Stap1 G A 5: 86,225,920 (GRCm39) probably null Het
Szt2 A G 4: 118,247,020 (GRCm39) V865A possibly damaging Het
Tnr T A 1: 159,679,671 (GRCm39) V215D probably benign Het
Trpm1 T C 7: 63,860,613 (GRCm39) L288P probably damaging Het
Ttll5 T A 12: 85,959,319 (GRCm39) probably benign Het
Usp8 T C 2: 126,559,976 (GRCm39) probably benign Het
Uxs1 T C 1: 43,789,446 (GRCm39) Y403C possibly damaging Het
Wnk2 T C 13: 49,244,345 (GRCm39) E497G probably damaging Het
Xdh T C 17: 74,250,890 (GRCm39) K21E probably benign Het
Other mutations in Hps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Hps5 APN 7 46,425,362 (GRCm39) missense probably damaging 1.00
IGL00543:Hps5 APN 7 46,427,497 (GRCm39) missense probably benign 0.37
IGL01090:Hps5 APN 7 46,437,751 (GRCm39) missense probably benign 0.02
IGL01351:Hps5 APN 7 46,410,856 (GRCm39) missense probably damaging 1.00
IGL01479:Hps5 APN 7 46,412,366 (GRCm39) critical splice donor site probably null
IGL02056:Hps5 APN 7 46,437,606 (GRCm39) missense probably damaging 1.00
IGL02117:Hps5 APN 7 46,432,940 (GRCm39) missense probably damaging 1.00
IGL02967:Hps5 APN 7 46,418,804 (GRCm39) missense possibly damaging 0.69
IGL03046:Hps5 APN 7 46,426,463 (GRCm39) splice site probably benign
IGL03187:Hps5 APN 7 46,422,631 (GRCm39) missense probably damaging 1.00
IGL03259:Hps5 APN 7 46,412,526 (GRCm39) missense probably damaging 0.99
dorian_gray UTSW 7 46,784,145 (GRCm38) unclassified probably benign
smoky UTSW 7 46,418,775 (GRCm39) nonsense probably null
Titan UTSW 7 46,432,893 (GRCm39) critical splice donor site probably null
toffee UTSW 7 46,777,075 (GRCm38) intron probably benign
wombat UTSW 7 46,433,058 (GRCm39) missense probably damaging 1.00
R0068:Hps5 UTSW 7 46,426,466 (GRCm39) splice site probably benign
R0068:Hps5 UTSW 7 46,426,466 (GRCm39) splice site probably benign
R0141:Hps5 UTSW 7 46,438,605 (GRCm39) missense probably damaging 1.00
R0383:Hps5 UTSW 7 46,418,712 (GRCm39) splice site probably null
R0402:Hps5 UTSW 7 46,440,333 (GRCm39) splice site probably benign
R0684:Hps5 UTSW 7 46,432,893 (GRCm39) critical splice donor site probably null
R1159:Hps5 UTSW 7 46,421,978 (GRCm39) splice site probably null
R1938:Hps5 UTSW 7 46,422,691 (GRCm39) missense probably damaging 1.00
R2058:Hps5 UTSW 7 46,417,475 (GRCm39) missense probably damaging 1.00
R3613:Hps5 UTSW 7 46,426,298 (GRCm39) critical splice donor site probably null
R3881:Hps5 UTSW 7 46,421,420 (GRCm39) missense possibly damaging 0.54
R3882:Hps5 UTSW 7 46,421,420 (GRCm39) missense possibly damaging 0.54
R3914:Hps5 UTSW 7 46,432,950 (GRCm39) missense probably damaging 1.00
R4095:Hps5 UTSW 7 46,425,218 (GRCm39) missense probably benign 0.01
R4457:Hps5 UTSW 7 46,433,037 (GRCm39) missense probably benign 0.00
R4739:Hps5 UTSW 7 46,436,013 (GRCm39) missense probably benign
R4838:Hps5 UTSW 7 46,437,778 (GRCm39) missense probably damaging 1.00
R4934:Hps5 UTSW 7 46,418,775 (GRCm39) nonsense probably null
R5876:Hps5 UTSW 7 46,438,620 (GRCm39) missense probably damaging 1.00
R6056:Hps5 UTSW 7 46,416,521 (GRCm39) missense probably benign 0.00
R6129:Hps5 UTSW 7 46,421,198 (GRCm39) missense probably benign
R6878:Hps5 UTSW 7 46,433,058 (GRCm39) missense probably damaging 1.00
R7912:Hps5 UTSW 7 46,418,826 (GRCm39) missense probably benign 0.15
R7977:Hps5 UTSW 7 46,418,475 (GRCm39) missense probably benign 0.03
R7987:Hps5 UTSW 7 46,418,475 (GRCm39) missense probably benign 0.03
R8131:Hps5 UTSW 7 46,421,312 (GRCm39) missense probably benign 0.00
R8243:Hps5 UTSW 7 46,436,066 (GRCm39) missense probably damaging 1.00
R8245:Hps5 UTSW 7 46,418,485 (GRCm39) nonsense probably null
R8878:Hps5 UTSW 7 46,421,345 (GRCm39) missense probably benign 0.07
R9050:Hps5 UTSW 7 46,422,607 (GRCm39) missense probably benign 0.00
R9186:Hps5 UTSW 7 46,438,370 (GRCm39) missense probably damaging 1.00
R9278:Hps5 UTSW 7 46,440,397 (GRCm39) missense probably benign 0.00
R9290:Hps5 UTSW 7 46,424,331 (GRCm39) missense probably damaging 0.97
R9303:Hps5 UTSW 7 46,438,619 (GRCm39) missense possibly damaging 0.94
R9305:Hps5 UTSW 7 46,438,619 (GRCm39) missense possibly damaging 0.94
R9650:Hps5 UTSW 7 46,425,354 (GRCm39) missense probably damaging 1.00
X0021:Hps5 UTSW 7 46,412,517 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16