Incidental Mutation 'R8802:Hps3'
| ID |
671537 |
| 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 |
068639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20074070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 431
(I431L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012580]
[ENSMUST00000108321]
|
| AlphaFold |
Q91VB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012580
AA Change: I431L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: I431L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000108321
AA Change: I299L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
AA Change: I299L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,249,415 (GRCm39) |
T83A |
possibly damaging |
Het |
| Abcc6 |
A |
G |
7: 45,658,283 (GRCm39) |
L451P |
probably damaging |
Het |
| Ak5 |
T |
C |
3: 152,321,631 (GRCm39) |
E252G |
probably damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,552,686 (GRCm39) |
K218N |
probably damaging |
Het |
| Bglap2 |
T |
A |
3: 88,285,568 (GRCm39) |
M35L |
probably benign |
Het |
| Bicral |
A |
G |
17: 47,135,626 (GRCm39) |
M528T |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,244,877 (GRCm39) |
V1008A |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,312,208 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,022 (GRCm39) |
V991A |
probably damaging |
Het |
| Dcc |
T |
C |
18: 71,959,125 (GRCm39) |
N216D |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,576,720 (GRCm39) |
D106V |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,253,544 (GRCm39) |
I2318T |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,173,750 (GRCm39) |
F2321S |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,693 (GRCm39) |
V5A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,315,813 (GRCm39) |
V68A |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,942 (GRCm39) |
L1783P |
probably damaging |
Het |
| Gdf6 |
C |
T |
4: 9,844,769 (GRCm39) |
H98Y |
probably damaging |
Het |
| Gm13271 |
C |
A |
4: 88,673,247 (GRCm39) |
P48Q |
probably damaging |
Het |
| Gm4871 |
A |
T |
5: 144,966,876 (GRCm39) |
N202K |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,635,050 (GRCm39) |
V365I |
probably benign |
Het |
| Hadhb |
C |
T |
5: 30,378,831 (GRCm39) |
Q157* |
probably null |
Het |
| Hivep2 |
C |
T |
10: 14,015,166 (GRCm39) |
R1778C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,301,288 (GRCm39) |
V2845E |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv12-38 |
A |
T |
6: 69,920,390 (GRCm39) |
C43S |
probably damaging |
Het |
| Jph2 |
T |
A |
2: 163,239,184 (GRCm39) |
H88L |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,283,496 (GRCm39) |
R955W |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,603 (GRCm39) |
T410A |
possibly damaging |
Het |
| Ltf |
C |
T |
9: 110,850,018 (GRCm39) |
P14S |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,124,206 (GRCm39) |
R521C |
probably damaging |
Het |
| Nampt |
C |
A |
12: 32,900,435 (GRCm39) |
T460K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,374,192 (GRCm39) |
I282V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,777,172 (GRCm39) |
V1394E |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,567,772 (GRCm39) |
S225L |
probably damaging |
Het |
| Or6k4 |
A |
G |
1: 173,964,616 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,087,211 (GRCm39) |
K465E |
possibly damaging |
Het |
| Pex11g |
T |
C |
8: 3,507,308 (GRCm39) |
K151R |
unknown |
Het |
| Pld2 |
T |
C |
11: 70,446,824 (GRCm39) |
L811P |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,778,726 (GRCm39) |
R459* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,101 (GRCm39) |
S720G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,587,680 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,038,073 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
T |
5: 22,130,257 (GRCm39) |
R2685S |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,352,928 (GRCm39) |
F3942L |
|
Het |
| Rpusd2 |
T |
C |
2: 118,865,378 (GRCm39) |
V25A |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,999,540 (GRCm39) |
I81L |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,587 (GRCm39) |
E48G |
probably benign |
Het |
| Skil |
C |
T |
3: 31,167,592 (GRCm39) |
P408L |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 24,089,274 (GRCm39) |
W186R |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,097,968 (GRCm39) |
F2S |
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,665,901 (GRCm39) |
M338V |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,819 (GRCm39) |
R185S |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,157 (GRCm39) |
K2732R |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,080 (GRCm39) |
V50E |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,836 (GRCm39) |
D422V |
possibly damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,225,405 (GRCm39) |
V466I |
probably benign |
Het |
| Xndc1 |
A |
G |
7: 101,720,539 (GRCm39) |
I6V |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,567,623 (GRCm39) |
T1154A |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,867 (GRCm39) |
H472Q |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,417 (GRCm39) |
T514S |
possibly damaging |
Het |
|
| Other mutations in Hps3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R1864:Hps3
|
UTSW |
3 |
20,074,123 (GRCm39) |
critical splice acceptor 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 |
|
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'- AGCCATCTATCTGATCATTCTGAG -3'
(R):5'- CAAGTGAACAGACTGACTTTGTTGG -3'
Sequencing Primer
(F):5'- ACTAGCAGAGATGTGCAG -3'
(R):5'- GAACCACTACCCCTGGTATGATGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation