Incidental Mutation 'R7384:Hps6'
ID 573000
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 045466-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 45991947-45994612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45992456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 131 (V131E)
Ref Sequence ENSEMBL: ENSMUSP00000096991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099393]
AlphaFold Q8BLY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000099393
AA Change: V131E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: V131E

DomainStartEndE-ValueType
Pfam:HPS6 1 772 1e-281 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,507,191 (GRCm39) I65F possibly damaging Het
Abca13 C A 11: 9,283,257 (GRCm39) S3226R probably damaging Het
Abhd14b A G 9: 106,327,340 (GRCm39) I41V probably benign Het
Acot2 T C 12: 84,039,441 (GRCm39) S317P probably benign Het
Acp7 T C 7: 28,314,513 (GRCm39) E284G possibly damaging Het
Adamts5 A G 16: 85,696,714 (GRCm39) F148L probably benign Het
Adcy10 C T 1: 165,404,177 (GRCm39) P1611S unknown Het
Agr2 A G 12: 36,045,923 (GRCm39) T57A probably damaging Het
Ankar T G 1: 72,697,624 (GRCm39) I1060L probably benign Het
Ano10 T A 9: 122,005,409 (GRCm39) D77V unknown Het
Anxa2r1 T A 13: 120,496,797 (GRCm39) Q24L possibly damaging Het
Apc2 G A 10: 80,148,458 (GRCm39) V1171I probably damaging Het
Apoa4 G A 9: 46,152,772 (GRCm39) R19Q not run Het
Arhgap33 A G 7: 30,226,696 (GRCm39) S504P probably damaging Het
Atg2a T C 19: 6,311,707 (GRCm39) V1862A probably damaging Het
Atp7b T C 8: 22,512,331 (GRCm39) S511G probably benign Het
Bcl10 A G 3: 145,638,795 (GRCm39) K146E possibly damaging Het
Bsg A T 10: 79,545,631 (GRCm39) D181V probably damaging Het
Btg4 T C 9: 51,030,413 (GRCm39) V171A probably benign Het
Cdh8 A C 8: 99,957,138 (GRCm39) N188K probably benign Het
Cflar C A 1: 58,791,735 (GRCm39) T346K Het
Chrna5 T C 9: 54,912,117 (GRCm39) S306P probably damaging Het
Cldn20 G A 17: 3,582,886 (GRCm39) G20R probably damaging Het
Clns1a G A 7: 97,345,988 (GRCm39) A18T probably benign Het
D130043K22Rik A G 13: 25,066,588 (GRCm39) Y795C probably damaging Het
Dync1li2 A C 8: 105,169,175 (GRCm39) S38A probably benign Het
Dysf A G 6: 84,091,087 (GRCm39) E1043G probably benign Het
Elapor1 A T 3: 108,370,784 (GRCm39) probably null Het
Eral1 A G 11: 77,964,927 (GRCm39) I422T possibly damaging Het
Exoc3 G A 13: 74,320,275 (GRCm39) P729S probably benign Het
Eya1 T A 1: 14,299,736 (GRCm39) Y339F probably damaging Het
Faah G T 4: 115,862,364 (GRCm39) N206K probably damaging Het
Fem1a A G 17: 56,564,537 (GRCm39) E210G probably benign Het
Gcc2 T A 10: 58,105,786 (GRCm39) S341T probably damaging Het
Gfpt2 A T 11: 49,701,817 (GRCm39) I123F possibly damaging Het
Gm3047 T A 14: 4,558,271 (GRCm38) N164K probably damaging Het
Gm3327 A G 14: 44,362,334 (GRCm39) K78E Het
Herpud1 A G 8: 95,116,005 (GRCm39) I57V probably damaging Het
Homer1 A T 13: 93,529,547 (GRCm39) R285S possibly damaging Het
Il1r1 T A 1: 40,321,421 (GRCm39) I11N possibly damaging Het
Jakmip1 T A 5: 37,330,551 (GRCm39) D410E possibly damaging Het
Kif3a T A 11: 53,469,681 (GRCm39) F97L probably damaging Het
Klf11 C T 12: 24,703,742 (GRCm39) T76I probably damaging Het
Ldlr A C 9: 21,651,090 (GRCm39) T503P probably benign Het
Mapk3 G C 7: 126,363,463 (GRCm39) R279P Het
Mb21d2 A T 16: 28,647,664 (GRCm39) D103E probably benign Het
Msh4 T A 3: 153,594,385 (GRCm39) M333L probably benign Het
Mycbp2 A G 14: 103,513,829 (GRCm39) I836T probably damaging Het
Myh1 A T 11: 67,115,201 (GRCm39) E1912V possibly damaging Het
Ncapd2 A G 6: 125,150,364 (GRCm39) V887A probably benign Het
Nlrp4a G A 7: 26,148,963 (GRCm39) R190Q not run Het
Nop53 T C 7: 15,673,420 (GRCm39) T344A probably damaging Het
Or2r3 A T 6: 42,448,257 (GRCm39) L285Q possibly damaging Het
Or5an11 T C 19: 12,246,440 (GRCm39) V282A possibly damaging Het
Or7h8 A G 9: 20,124,041 (GRCm39) Y132C probably damaging Het
Pcyox1l A C 18: 61,831,461 (GRCm39) V266G probably damaging Het
Pde5a A G 3: 122,618,649 (GRCm39) Y654C probably damaging Het
Polq T C 16: 36,849,780 (GRCm39) S345P probably damaging Het
Polr1f G T 12: 33,483,631 (GRCm39) G128W probably damaging Het
Prdm1 A T 10: 44,334,503 (GRCm39) C8S probably benign Het
Psg17 T A 7: 18,552,585 (GRCm39) Q230L possibly damaging Het
Rab11fip5 A T 6: 85,325,312 (GRCm39) S332T possibly damaging Het
Rac2 T A 15: 78,446,131 (GRCm39) K186* probably null Het
S100pbp T C 4: 129,075,702 (GRCm39) N208D probably benign Het
Scaf11 A T 15: 96,318,268 (GRCm39) V432D possibly damaging Het
Skic3 A C 13: 76,298,854 (GRCm39) S1187R possibly damaging Het
Slc34a1 G T 13: 55,550,747 (GRCm39) C225F probably benign Het
Slc35e2 A T 4: 155,695,089 (GRCm39) M152L probably benign Het
Slc49a3 A T 5: 108,593,926 (GRCm39) I61K probably damaging Het
Slc9a4 T A 1: 40,651,411 (GRCm39) I563K probably benign Het
Sppl3 T G 5: 115,199,700 (GRCm39) probably null Het
Stam T C 2: 14,139,241 (GRCm39) F301L probably benign Het
Supt16 G A 14: 52,418,619 (GRCm39) R213W probably damaging Het
Tbc1d8 A T 1: 39,433,179 (GRCm39) D334E probably benign Het
Tmem87a C T 2: 120,202,004 (GRCm39) probably null Het
Tnk1 T C 11: 69,742,447 (GRCm39) Y661C probably damaging Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Tnxb A G 17: 34,937,492 (GRCm39) D2947G probably damaging Het
Traf4 A G 11: 78,051,617 (GRCm39) probably null Het
Trappc10 A T 10: 78,045,218 (GRCm39) M490K possibly damaging Het
Trav12-1 A G 14: 53,775,993 (GRCm39) T49A probably benign Het
Ubap1l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 9: 65,279,032 (GRCm39) probably benign Het
Unc79 G T 12: 103,137,837 (GRCm39) V2485L probably benign Het
Ush2a T C 1: 188,132,360 (GRCm39) S861P probably damaging Het
Vcam1 A G 3: 115,910,877 (GRCm39) V507A possibly damaging Het
Vmn1r218 A G 13: 23,320,895 (GRCm39) M81V probably benign Het
Zfp652 G T 11: 95,643,830 (GRCm39) V343L probably damaging 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
R3156:Hps6 UTSW 19 45,992,180 (GRCm39) missense probably damaging 1.00
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
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'- CCACTTGCTGCTATTAAGACCC -3'
(R):5'- TGTTGGTAGTAGGCACCAGG -3'

Sequencing Primer
(F):5'- CCCACAGCTTCTAGTGGC -3'
(R):5'- CTTGCGGGAGGCTATCAGTC -3'
Posted On 2019-09-13