Incidental Mutation 'R1864:Hps3'
ID 208462
Institutional Source Beutler Lab
Gene Symbol Hps3
Ensembl Gene ENSMUSG00000027615
Gene Name HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Synonyms Hermansky-Pudlak syndrome 3
MMRRC Submission 039887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1864 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 20050109-20089478 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 20074123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012580] [ENSMUST00000108321] [ENSMUST00000108321]
AlphaFold Q91VB4
Predicted Effect probably null
Transcript: ENSMUST00000012580
SMART Domains Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615

DomainStartEndE-ValueType
Pfam:HPS3_N 3 212 2.8e-74 PFAM
Pfam:HPS3_Mid 255 640 1.3e-167 PFAM
Pfam:HPS3_C 649 1000 1.8e-175 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108321
SMART Domains Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615

DomainStartEndE-ValueType
Pfam:HPS3_N 3 87 5.6e-25 PFAM
Pfam:HPS3_Mid 121 508 4.2e-161 PFAM
Pfam:HPS3_C 517 870 9.2e-199 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108321
SMART Domains Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615

DomainStartEndE-ValueType
Pfam:HPS3_N 3 87 5.6e-25 PFAM
Pfam:HPS3_Mid 121 508 4.2e-161 PFAM
Pfam:HPS3_C 517 870 9.2e-199 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155121
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
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 containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agtpbp1 A G 13: 59,598,016 (GRCm39) Y1198H possibly damaging Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Akp3 TCACCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCACCAC 1: 87,055,489 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,508,610 (GRCm39) N329K probably benign Het
Ano4 C A 10: 88,807,253 (GRCm39) G741V probably damaging Het
Anxa1 T C 19: 20,357,053 (GRCm39) D191G probably benign Het
Apc2 C T 10: 80,149,482 (GRCm39) T1512I probably damaging Het
Aph1b A T 9: 66,701,395 (GRCm39) C81S probably benign Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Arhgef28 A T 13: 98,130,640 (GRCm39) H399Q probably benign Het
Asic5 A G 3: 81,919,294 (GRCm39) E304G probably benign Het
B4galnt4 A G 7: 140,650,446 (GRCm39) Y771C probably damaging Het
Birc2 G T 9: 7,819,518 (GRCm39) Q465K probably benign Het
Btla C T 16: 45,070,737 (GRCm39) T232I probably damaging Het
Ccl7 G T 11: 81,937,378 (GRCm39) K37N probably benign Het
Cdk17 T C 10: 93,061,967 (GRCm39) V233A probably damaging Het
Cenatac A G 9: 44,329,018 (GRCm39) C66R probably damaging Het
Cilp2 C A 8: 70,333,973 (GRCm39) Q1008H probably damaging Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Clcnka T C 4: 141,120,113 (GRCm39) T269A probably damaging Het
Col12a1 A T 9: 79,534,385 (GRCm39) probably null Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cyp3a25 T C 5: 145,931,739 (GRCm39) D123G probably damaging Het
D630003M21Rik A T 2: 158,045,105 (GRCm39) L808Q probably damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx15 T C 5: 52,342,043 (GRCm39) T92A possibly damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Diaph2 G A X: 128,860,876 (GRCm39) R473Q probably damaging Het
Dnd1 A G 18: 36,899,057 (GRCm39) C11R possibly damaging Het
Dock1 A C 7: 134,748,236 (GRCm39) D1566A probably benign Het
Drp2 A G X: 133,327,864 (GRCm39) I43V probably benign Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Ecpas T A 4: 58,849,942 (GRCm39) H427L possibly damaging Het
Emilin1 A G 5: 31,075,934 (GRCm39) E725G probably damaging Het
Eml2 A G 7: 18,935,803 (GRCm39) Y487C probably damaging Het
Epg5 T A 18: 78,018,246 (GRCm39) L919H probably damaging Het
Fam187a T A 11: 102,776,837 (GRCm39) S214T probably damaging Het
Flna T C X: 73,283,869 (GRCm39) T521A probably benign Het
Foxi1 T A 11: 34,157,531 (GRCm39) I165F probably damaging Het
Fxr2 A T 11: 69,543,103 (GRCm39) K633N probably benign Het
Gdpd5 T C 7: 99,098,206 (GRCm39) I209T probably benign Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Grm7 A T 6: 111,057,384 (GRCm39) D328V probably benign Het
Heatr6 T C 11: 83,660,056 (GRCm39) S534P probably damaging Het
Heph A G X: 95,573,092 (GRCm39) T792A probably damaging Het
Hipk2 T A 6: 38,695,870 (GRCm39) probably null Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Insc T C 7: 114,441,413 (GRCm39) I409T probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Kcnma1 T A 14: 23,853,230 (GRCm39) Q108L probably damaging Het
Klc3 A G 7: 19,131,966 (GRCm39) V137A probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Lgr4 T A 2: 109,841,742 (GRCm39) F576I possibly damaging Het
Lypd6b A G 2: 49,837,459 (GRCm39) I144V possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Mitf A T 6: 97,987,383 (GRCm39) N159I probably damaging Het
Morc1 T C 16: 48,412,893 (GRCm39) I678T probably benign Het
Muc4 A G 16: 32,576,625 (GRCm39) probably benign Het
Myo7a T C 7: 97,701,463 (GRCm39) Y2115C probably damaging Het
Myof T C 19: 37,975,153 (GRCm39) I182V probably benign Het
Ncor1 A G 11: 62,272,245 (GRCm39) V635A probably damaging Het
Neb G T 2: 52,102,772 (GRCm39) Y4257* probably null Het
Npr2 T A 4: 43,641,258 (GRCm39) V428E probably benign Het
Nufip2 A G 11: 77,583,124 (GRCm39) D346G probably damaging Het
Obsl1 G A 1: 75,469,753 (GRCm39) S1088F probably benign Het
Or10s1 T G 9: 39,986,081 (GRCm39) I163M possibly damaging Het
Or2ag1 T C 7: 106,313,030 (GRCm39) N286S possibly damaging Het
Or4c127 T A 2: 89,832,825 (GRCm39) V25E probably benign Het
Or4k38 C T 2: 111,166,052 (GRCm39) V124M possibly damaging Het
Or5ac22 A G 16: 59,135,378 (GRCm39) Y131H probably damaging Het
Or8b9 T A 9: 37,766,560 (GRCm39) Y149N probably damaging Het
Pdgfrb G A 18: 61,204,789 (GRCm39) V550I probably benign Het
Pi4ka A T 16: 17,185,389 (GRCm39) L237* probably null Het
Pla2r1 G A 2: 60,259,055 (GRCm39) T1111M probably benign Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Pnp G C 14: 51,185,430 (GRCm39) A67P probably benign Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prom2 T C 2: 127,381,707 (GRCm39) D203G probably benign Het
Pum1 T C 4: 130,478,836 (GRCm39) V486A possibly damaging Het
Rnf115 A G 3: 96,635,153 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rusc2 C A 4: 43,421,719 (GRCm39) A713D possibly damaging Het
Ryr3 A T 2: 112,560,673 (GRCm39) H3009Q possibly damaging Het
Serpina1d C A 12: 103,734,256 (GRCm39) C16F probably benign Het
Serpinf2 G T 11: 75,328,309 (GRCm39) R80S possibly damaging Het
Sh2d4a C A 8: 68,781,967 (GRCm39) Q192K probably benign Het
Sh3d21 T A 4: 126,044,729 (GRCm39) probably null Het
Sh3rf2 T A 18: 42,187,046 (GRCm39) L55Q probably damaging Het
Shc4 T C 2: 125,481,287 (GRCm39) D255G probably damaging Het
Skint2 T A 4: 112,483,106 (GRCm39) H170Q probably benign Het
Slc29a4 A G 5: 142,703,509 (GRCm39) Y261C probably damaging Het
Slc35a5 A T 16: 44,964,071 (GRCm39) N102K possibly damaging Het
Slc38a3 A T 9: 107,533,152 (GRCm39) I307K probably damaging Het
Sv2b A T 7: 74,773,828 (GRCm39) S548T probably benign Het
Tgfbi T C 13: 56,780,694 (GRCm39) S524P probably benign Het
Tgm5 T C 2: 120,905,699 (GRCm39) D152G probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Trpm1 A G 7: 63,917,764 (GRCm39) K1258R probably damaging Het
Ttc22 T C 4: 106,494,003 (GRCm39) V321A probably benign Het
Ube2c C A 2: 164,611,943 (GRCm39) A15E probably benign Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Umod A T 7: 119,062,478 (GRCm39) L631M probably damaging Het
Ush1c G A 7: 45,868,816 (GRCm39) Q373* probably null Het
Vmn1r238 T A 18: 3,123,040 (GRCm39) R125* probably null Het
Wnt8b T C 19: 44,482,029 (GRCm39) L14P probably benign Het
Wrn G A 8: 33,778,892 (GRCm39) A563V probably damaging Het
Zfp268 A T 4: 145,348,998 (GRCm39) Q145L possibly damaging Het
Zfp608 A G 18: 55,030,983 (GRCm39) S986P probably benign Het
Znrf3 T C 11: 5,233,373 (GRCm39) H228R possibly damaging Het
Other mutations in Hps3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Hps3 APN 3 20,073,971 (GRCm39) missense possibly damaging 0.94
IGL00846:Hps3 APN 3 20,079,956 (GRCm39) missense probably benign 0.00
IGL01320:Hps3 APN 3 20,084,633 (GRCm39) missense probably benign 0.12
IGL01364:Hps3 APN 3 20,057,469 (GRCm39) missense possibly damaging 0.58
IGL01751:Hps3 APN 3 20,065,130 (GRCm39) missense probably damaging 1.00
IGL01843:Hps3 APN 3 20,083,165 (GRCm39) missense probably benign 0.05
IGL02294:Hps3 APN 3 20,068,212 (GRCm39) missense probably damaging 1.00
IGL02581:Hps3 APN 3 20,057,385 (GRCm39) intron probably benign
Blue UTSW 3 20,084,960 (GRCm39) missense probably damaging 1.00
earl_grey UTSW 3 20,017,173 (GRCm38) intron probably benign
gandalf UTSW 3 20,066,960 (GRCm39) nonsense probably null
pam_gray UTSW 3 20,017,173 (GRCm38) intron probably benign
R0107:Hps3 UTSW 3 20,084,960 (GRCm39) missense probably damaging 1.00
R0245:Hps3 UTSW 3 20,066,960 (GRCm39) nonsense probably null
R0421:Hps3 UTSW 3 20,083,480 (GRCm39) missense probably benign 0.00
R0524:Hps3 UTSW 3 20,066,940 (GRCm39) missense probably damaging 1.00
R0763:Hps3 UTSW 3 20,057,443 (GRCm39) missense probably damaging 1.00
R1795:Hps3 UTSW 3 20,066,859 (GRCm39) critical splice donor site probably null
R2029:Hps3 UTSW 3 20,084,691 (GRCm39) missense probably benign 0.01
R2101:Hps3 UTSW 3 20,066,947 (GRCm39) missense possibly damaging 0.95
R2221:Hps3 UTSW 3 20,056,527 (GRCm39) missense probably benign
R2268:Hps3 UTSW 3 20,067,099 (GRCm39) splice site probably benign
R2520:Hps3 UTSW 3 20,083,194 (GRCm39) missense probably damaging 1.00
R3809:Hps3 UTSW 3 20,072,976 (GRCm39) missense probably damaging 1.00
R3888:Hps3 UTSW 3 20,057,387 (GRCm39) critical splice donor site probably null
R3942:Hps3 UTSW 3 20,051,103 (GRCm39) missense probably damaging 1.00
R4022:Hps3 UTSW 3 20,089,425 (GRCm39) missense possibly damaging 0.69
R4156:Hps3 UTSW 3 20,083,393 (GRCm39) missense probably damaging 1.00
R4739:Hps3 UTSW 3 20,084,574 (GRCm39) critical splice acceptor site probably null
R4823:Hps3 UTSW 3 20,066,890 (GRCm39) missense probably benign 0.03
R4912:Hps3 UTSW 3 20,068,337 (GRCm39) missense probably damaging 1.00
R5307:Hps3 UTSW 3 20,066,865 (GRCm39) missense possibly damaging 0.89
R5859:Hps3 UTSW 3 20,063,034 (GRCm39) missense probably benign 0.02
R6140:Hps3 UTSW 3 20,051,151 (GRCm39) missense probably damaging 1.00
R6183:Hps3 UTSW 3 20,063,032 (GRCm39) missense probably benign 0.04
R6971:Hps3 UTSW 3 20,065,699 (GRCm39) missense probably damaging 1.00
R6981:Hps3 UTSW 3 20,076,984 (GRCm39) missense probably damaging 1.00
R7120:Hps3 UTSW 3 20,065,705 (GRCm39) missense probably damaging 1.00
R7146:Hps3 UTSW 3 20,063,050 (GRCm39) missense probably damaging 1.00
R7223:Hps3 UTSW 3 20,084,583 (GRCm39) missense probably benign 0.05
R7448:Hps3 UTSW 3 20,089,329 (GRCm39) missense probably damaging 0.99
R7452:Hps3 UTSW 3 20,065,592 (GRCm39) missense probably damaging 1.00
R7560:Hps3 UTSW 3 20,084,616 (GRCm39) missense probably benign 0.29
R7659:Hps3 UTSW 3 20,076,978 (GRCm39) nonsense probably null
R7769:Hps3 UTSW 3 20,072,972 (GRCm39) splice site probably null
R8050:Hps3 UTSW 3 20,057,492 (GRCm39) missense probably benign
R8242:Hps3 UTSW 3 20,068,290 (GRCm39) missense possibly damaging 0.59
R8802:Hps3 UTSW 3 20,074,070 (GRCm39) missense probably damaging 1.00
R8822:Hps3 UTSW 3 20,057,391 (GRCm39) missense probably benign
R8945:Hps3 UTSW 3 20,068,224 (GRCm39) missense probably damaging 0.99
R9111:Hps3 UTSW 3 20,084,575 (GRCm39) critical splice acceptor site probably null
R9131:Hps3 UTSW 3 20,083,350 (GRCm39) missense probably damaging 0.98
R9645:Hps3 UTSW 3 20,084,831 (GRCm39) missense probably benign 0.01
R9728:Hps3 UTSW 3 20,065,128 (GRCm39) missense probably benign 0.06
X0021:Hps3 UTSW 3 20,084,913 (GRCm39) missense probably benign 0.14
X0066:Hps3 UTSW 3 20,070,152 (GRCm39) missense probably damaging 1.00
Z1177:Hps3 UTSW 3 20,063,065 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAAACTAGCAGAGATGTGC -3'
(R):5'- AGTGAACAGACTGACTTTGTTGG -3'

Sequencing Primer
(F):5'- CAGGGCTAGCGGAATGC -3'
(R):5'- GACAGGGTCCTCATGTATCTCAG -3'
Posted On 2014-06-30