Incidental Mutation 'R3156:Hps6'
ID 263522
Institutional Source Beutler Lab
Gene Symbol Hps6
Ensembl Gene ENSMUSG00000074811
Gene Name HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Synonyms BLOC-2, ruby eye, 5330434M19Rik, Hermansky-Pudlak syndrome 6, ru
MMRRC Submission 040607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3156 (G1)
Quality Score 180
Status Validated
Chromosome 19
Chromosomal Location 45991947-45994612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45992180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000096991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099393]
AlphaFold Q8BLY7
Predicted Effect probably damaging
Transcript: ENSMUST00000099393
AA Change: D39G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: D39G

DomainStartEndE-ValueType
Pfam:HPS6 1 772 1e-281 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181820
Meta Mutation Damage Score 0.1351 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Spontaneous(8) Chemically induced(1)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T C 1: 85,859,104 (GRCm39) probably benign Het
Adra2b T C 2: 127,205,570 (GRCm39) L29P probably damaging Het
Anxa9 A T 3: 95,209,716 (GRCm39) D134E probably benign Het
Atad1 A T 19: 32,684,355 (GRCm39) N14K probably benign Het
Cbl T C 9: 44,070,147 (GRCm39) I533M possibly damaging Het
Cdca2 T C 14: 67,935,612 (GRCm39) N368D possibly damaging Het
Cfap45 A T 1: 172,373,291 (GRCm39) N543Y possibly damaging Het
Col4a2 T A 8: 11,363,414 (GRCm39) probably benign Het
Dis3l T C 9: 64,219,032 (GRCm39) T633A probably benign Het
Dnah5 G A 15: 28,438,237 (GRCm39) probably benign Het
Fut2 A T 7: 45,300,091 (GRCm39) L227Q probably damaging Het
Gcnt2 T C 13: 41,014,654 (GRCm39) V275A probably benign Het
Glrp1 C A 1: 88,430,976 (GRCm39) Q131H unknown Het
Gm6871 T C 7: 41,223,079 (GRCm39) N3S probably benign Het
Hmgcs1 C T 13: 120,166,614 (GRCm39) T402I probably benign Het
Mab21l4 T A 1: 93,087,764 (GRCm39) I30F possibly damaging Het
Mycbp2 A T 14: 103,446,179 (GRCm39) probably benign Het
Myh6 A G 14: 55,182,125 (GRCm39) I1761T probably damaging Het
Neo1 T C 9: 58,796,262 (GRCm39) probably null Het
Or4k15c T C 14: 50,321,982 (GRCm39) D52G probably benign Het
Or7g27 A G 9: 19,250,720 (GRCm39) probably null Het
Patj A G 4: 98,562,465 (GRCm39) E1478G probably damaging Het
Paxbp1 T C 16: 90,832,878 (GRCm39) T304A probably benign Het
Rbp3 A T 14: 33,679,071 (GRCm39) K1006N probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ror2 G T 13: 53,271,400 (GRCm39) N306K probably damaging Het
Rusc1 T C 3: 88,999,038 (GRCm39) D248G probably benign Het
Secisbp2 A G 13: 51,816,711 (GRCm39) T288A probably benign Het
Setbp1 A G 18: 78,902,518 (GRCm39) V383A probably benign Het
Sez6 T A 11: 77,844,605 (GRCm39) S143T possibly damaging Het
Slc5a9 A T 4: 111,747,421 (GRCm39) I322N possibly damaging Het
Szt2 A G 4: 118,260,016 (GRCm39) probably null Het
Tex2 A G 11: 106,424,695 (GRCm39) probably null Het
Tonsl A T 15: 76,523,721 (GRCm39) L64Q probably damaging Het
Triml2 A G 8: 43,640,716 (GRCm39) N191D probably benign Het
Trpc1 C T 9: 95,603,185 (GRCm39) probably null Het
Yeats4 C T 10: 117,058,186 (GRCm39) V22I probably benign Het
Other mutations in Hps6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Hps6 APN 19 45,992,099 (GRCm39) missense probably damaging 1.00
IGL02826:Hps6 APN 19 45,994,480 (GRCm39) makesense probably null
stamper-coat UTSW 19 45,992,275 (GRCm39) missense probably damaging 1.00
R0299:Hps6 UTSW 19 45,992,671 (GRCm39) missense probably damaging 0.98
R0613:Hps6 UTSW 19 45,992,260 (GRCm39) missense probably benign
R1036:Hps6 UTSW 19 45,992,680 (GRCm39) missense probably benign 0.00
R1845:Hps6 UTSW 19 45,993,409 (GRCm39) missense probably benign 0.30
R1959:Hps6 UTSW 19 45,992,774 (GRCm39) missense probably benign 0.33
R2271:Hps6 UTSW 19 45,994,121 (GRCm39) missense possibly damaging 0.86
R2332:Hps6 UTSW 19 45,992,930 (GRCm39) missense possibly damaging 0.82
R3937:Hps6 UTSW 19 45,992,492 (GRCm39) missense probably damaging 0.97
R7108:Hps6 UTSW 19 45,993,929 (GRCm39) missense probably damaging 1.00
R7384:Hps6 UTSW 19 45,992,456 (GRCm39) missense possibly damaging 0.96
R7710:Hps6 UTSW 19 45,993,007 (GRCm39) missense probably benign 0.03
R8444:Hps6 UTSW 19 45,993,867 (GRCm39) missense possibly damaging 0.72
R8530:Hps6 UTSW 19 45,991,959 (GRCm39) start gained probably benign
R8773:Hps6 UTSW 19 45,994,141 (GRCm39) missense possibly damaging 0.92
R8868:Hps6 UTSW 19 45,992,446 (GRCm39) missense possibly damaging 0.89
R9329:Hps6 UTSW 19 45,992,542 (GRCm39) missense probably benign 0.00
R9385:Hps6 UTSW 19 45,994,349 (GRCm39) missense probably damaging 0.97
R9803:Hps6 UTSW 19 45,993,947 (GRCm39) nonsense probably null
X0065:Hps6 UTSW 19 45,992,605 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCACCTCATTCACCAGGGAC -3'
(R):5'- AGTAGCTTCCATCCAGGCTC -3'

Sequencing Primer
(F):5'- CTCATTCACCAGGGACGGAAG -3'
(R):5'- GCTAGGCCACTCTCCCATAC -3'
Posted On 2015-02-05