Incidental Mutation 'R2520:Hps3'
| ID |
254304 |
| 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 |
040424-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R2520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20083194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 167
(D167E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012580]
[ENSMUST00000108321]
|
| AlphaFold |
Q91VB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012580
AA Change: D299E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: D299E
| 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: D167E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
AA Change: D167E
| 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 |
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
T |
5: 3,625,773 (GRCm39) |
N70I |
probably damaging |
Het |
| 4930503B20Rik |
G |
A |
3: 146,356,261 (GRCm39) |
R216W |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,218,091 (GRCm39) |
|
probably null |
Het |
| Arhgdia |
A |
T |
11: 120,470,852 (GRCm39) |
V72E |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,077,207 (GRCm39) |
K525* |
probably null |
Het |
| Bckdha |
A |
C |
7: 25,341,124 (GRCm39) |
I79S |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,494,893 (GRCm39) |
|
probably null |
Het |
| Cers5 |
G |
A |
15: 99,634,262 (GRCm39) |
T362I |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,177,942 (GRCm39) |
F86I |
probably damaging |
Het |
| Crispld1 |
G |
A |
1: 17,821,000 (GRCm39) |
D347N |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,929,145 (GRCm39) |
T352S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,787,785 (GRCm39) |
Q443* |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,641 (GRCm39) |
D283G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,513,868 (GRCm39) |
E82G |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,518,074 (GRCm39) |
D42G |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,741,993 (GRCm39) |
H1130R |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,819,839 (GRCm39) |
Y198F |
probably damaging |
Het |
| Epop |
A |
G |
11: 97,519,554 (GRCm39) |
L185P |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,868,527 (GRCm39) |
C1485S |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,253,806 (GRCm39) |
S571T |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,414 (GRCm39) |
I196F |
probably null |
Het |
| Gm8237 |
T |
A |
14: 5,863,642 (GRCm38) |
I8L |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,614,269 (GRCm39) |
N590K |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,633 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,619,398 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,881 (GRCm39) |
S374G |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,301,202 (GRCm39) |
G307S |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,047 (GRCm39) |
F198S |
probably damaging |
Het |
| Lyz2 |
T |
A |
10: 117,114,558 (GRCm39) |
I124F |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,020 (GRCm39) |
C220S |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,204,931 (GRCm39) |
K1595* |
probably null |
Het |
| Naga |
G |
T |
15: 82,214,295 (GRCm39) |
D405E |
probably benign |
Het |
| Nanog |
T |
A |
6: 122,690,418 (GRCm39) |
N249K |
probably benign |
Het |
| Nhlh1 |
G |
T |
1: 171,881,570 (GRCm39) |
R99S |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,202,090 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,354 (GRCm39) |
E79G |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,746 (GRCm39) |
C160* |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52n2 |
T |
A |
7: 104,542,080 (GRCm39) |
I252F |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,267,464 (GRCm39) |
D592G |
probably damaging |
Het |
| Prps1l3 |
T |
C |
12: 57,285,369 (GRCm39) |
V53A |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,481,826 (GRCm39) |
V853G |
probably damaging |
Het |
| Pycard |
A |
G |
7: 127,592,677 (GRCm39) |
I50T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,097,221 (GRCm39) |
S99T |
probably benign |
Het |
| Rph3al |
A |
G |
11: 75,797,373 (GRCm39) |
S108P |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 142,071,526 (GRCm39) |
A979T |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,368 (GRCm39) |
Q216* |
probably null |
Het |
| Slc35f3 |
T |
A |
8: 127,121,312 (GRCm39) |
V391E |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,384 (GRCm39) |
I666F |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,167,013 (GRCm39) |
V834A |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,799,455 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,604,679 (GRCm39) |
C91S |
probably damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,481 (GRCm39) |
N503K |
possibly damaging |
Het |
| Trbv28 |
A |
G |
6: 41,248,541 (GRCm39) |
T24A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,446 (GRCm39) |
E178G |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,329,696 (GRCm39) |
H546Q |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,799 (GRCm39) |
I153V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,899,964 (GRCm39) |
V101A |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,926,243 (GRCm39) |
H501Q |
probably damaging |
Het |
| Upf3a |
T |
A |
8: 13,846,443 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,352,562 (GRCm39) |
S94G |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,917,573 (GRCm39) |
*381W |
probably null |
Het |
| Wdr90 |
G |
A |
17: 26,074,326 (GRCm39) |
P680S |
probably damaging |
Het |
| Zbtb22 |
G |
A |
17: 34,135,956 (GRCm39) |
V34M |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,253,689 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,295 (GRCm39) |
V295A |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,121,578 (GRCm39) |
V3E |
possibly damaging |
Het |
| Zfp748 |
G |
T |
13: 67,694,781 (GRCm39) |
D32E |
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 |
|
|
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'- AGCAGGATTGAAAAGTAGCATTCTG -3'
(R):5'- CTGGAGTCCACAGGATTAGAAG -3'
Sequencing Primer
(F):5'- CTTTCCTCAGGAAGATTCAGCAG -3'
(R):5'- TCCACAGGATTAGAAGATGAAAAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation