Incidental Mutation 'R8243:Hps5'
ID |
637650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hps5
|
Ensembl Gene |
ENSMUSG00000014418 |
Gene Name |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
Synonyms |
Hermansky-Pudlak syndrome 5, ru-2, ru2, ruby eye 2 |
MMRRC Submission |
067648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R8243 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
46409890-46445488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 46436066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 160
(A160E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014562]
[ENSMUST00000107653]
[ENSMUST00000107654]
[ENSMUST00000123725]
[ENSMUST00000142663]
[ENSMUST00000152759]
[ENSMUST00000211347]
|
AlphaFold |
P59438 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014562
AA Change: A160E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000014562 Gene: ENSMUSG00000014418 AA Change: A160E
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107653
AA Change: A160E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103280 Gene: ENSMUSG00000014418 AA Change: A160E
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
Blast:WD40
|
63 |
103 |
6e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
low complexity region
|
396 |
416 |
N/A |
INTRINSIC |
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
low complexity region
|
956 |
965 |
N/A |
INTRINSIC |
low complexity region
|
988 |
1000 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107654
AA Change: A160E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103281 Gene: ENSMUSG00000014418 AA Change: A160E
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123725
|
SMART Domains |
Protein: ENSMUSP00000116770 Gene: ENSMUSG00000014418
Domain | Start | End | E-Value | Type |
SCOP:d1tbga_
|
24 |
107 |
5e-4 |
SMART |
Blast:WD40
|
63 |
103 |
1e-22 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142663
AA Change: A160E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122887 Gene: ENSMUSG00000014418 AA Change: A160E
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
8e-8 |
SMART |
Blast:WD40
|
63 |
103 |
9e-20 |
BLAST |
Blast:WD40
|
111 |
151 |
2e-19 |
BLAST |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152759
AA Change: A160E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115786 Gene: ENSMUSG00000014418 AA Change: A160E
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
2e-8 |
SMART |
Blast:WD40
|
63 |
103 |
1e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
2e-20 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211347
AA Change: A160E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211471
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.7%
- 20x: 96.0%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,015,909 (GRCm39) |
H356Q |
probably damaging |
Het |
BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
Bcl6 |
C |
T |
16: 23,786,883 (GRCm39) |
C636Y |
probably damaging |
Het |
Cabyr |
G |
T |
18: 12,883,759 (GRCm39) |
C82F |
probably benign |
Het |
Clec4a1 |
T |
C |
6: 122,901,778 (GRCm39) |
V70A |
possibly damaging |
Het |
Col11a1 |
C |
T |
3: 113,855,141 (GRCm39) |
P134S |
unknown |
Het |
Col27a1 |
A |
G |
4: 63,144,120 (GRCm39) |
T603A |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,576,468 (GRCm39) |
D1964G |
probably damaging |
Het |
Dnajc8 |
A |
G |
4: 132,278,775 (GRCm39) |
|
probably null |
Het |
E330034G19Rik |
T |
C |
14: 24,358,360 (GRCm39) |
Y318H |
|
Het |
Efemp1 |
T |
A |
11: 28,871,690 (GRCm39) |
S402T |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,097,411 (GRCm39) |
V110A |
possibly damaging |
Het |
Fgd5 |
C |
T |
6: 91,966,004 (GRCm39) |
L746F |
possibly damaging |
Het |
Gna13 |
A |
G |
11: 109,287,239 (GRCm39) |
N354S |
probably damaging |
Het |
Helq |
G |
T |
5: 100,918,348 (GRCm39) |
S855R |
possibly damaging |
Het |
Igfbp7 |
T |
A |
5: 77,549,339 (GRCm39) |
E188V |
probably benign |
Het |
Ivd |
A |
G |
2: 118,702,018 (GRCm39) |
Y150C |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,708,045 (GRCm39) |
T723A |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,288,724 (GRCm39) |
N1239S |
probably benign |
Het |
Klb |
A |
G |
5: 65,536,338 (GRCm39) |
N556S |
possibly damaging |
Het |
Klhdc8a |
C |
T |
1: 132,230,304 (GRCm39) |
R140C |
possibly damaging |
Het |
Klhl2 |
T |
A |
8: 65,202,084 (GRCm39) |
M531L |
probably benign |
Het |
Mark3 |
T |
A |
12: 111,613,956 (GRCm39) |
S546R |
possibly damaging |
Het |
Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
Musk |
G |
A |
4: 58,293,600 (GRCm39) |
R63K |
probably benign |
Het |
Nacad |
C |
T |
11: 6,552,643 (GRCm39) |
E183K |
probably damaging |
Het |
Oasl1 |
T |
C |
5: 115,066,220 (GRCm39) |
Y113H |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,484 (GRCm39) |
C254S |
probably benign |
Het |
Or1x2 |
C |
T |
11: 50,918,138 (GRCm39) |
T103M |
probably benign |
Het |
Or4c111 |
T |
A |
2: 88,844,051 (GRCm39) |
Y119F |
probably benign |
Het |
Or51ab3 |
A |
T |
7: 103,201,205 (GRCm39) |
D71V |
probably damaging |
Het |
Or8b56 |
A |
G |
9: 38,739,803 (GRCm39) |
E272G |
|
Het |
P4hb |
T |
C |
11: 120,454,206 (GRCm39) |
D296G |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plekhh1 |
G |
A |
12: 79,125,843 (GRCm39) |
R1293H |
probably benign |
Het |
Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
Ptprn |
T |
C |
1: 75,229,179 (GRCm39) |
D776G |
probably damaging |
Het |
Rffl |
A |
G |
11: 82,703,621 (GRCm39) |
C101R |
probably damaging |
Het |
Rundc1 |
A |
G |
11: 101,316,384 (GRCm39) |
D152G |
probably benign |
Het |
Sema6c |
A |
G |
3: 95,079,916 (GRCm39) |
T737A |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,687 (GRCm39) |
T496A |
probably damaging |
Het |
Supt7l |
T |
C |
5: 31,673,013 (GRCm39) |
I412V |
probably benign |
Het |
Trim38 |
T |
A |
13: 23,975,378 (GRCm39) |
I439N |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Usp18 |
G |
A |
6: 121,246,103 (GRCm39) |
R353H |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,700,849 (GRCm39) |
K1058R |
probably benign |
Het |
Utp25 |
T |
C |
1: 192,796,937 (GRCm39) |
D598G |
probably benign |
Het |
|
Other mutations in Hps5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Hps5
|
APN |
7 |
46,425,362 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00543:Hps5
|
APN |
7 |
46,427,497 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01090:Hps5
|
APN |
7 |
46,437,751 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01351:Hps5
|
APN |
7 |
46,410,856 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01479:Hps5
|
APN |
7 |
46,412,366 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02056:Hps5
|
APN |
7 |
46,437,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02117:Hps5
|
APN |
7 |
46,432,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02210:Hps5
|
APN |
7 |
46,435,994 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02967:Hps5
|
APN |
7 |
46,418,804 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03046:Hps5
|
APN |
7 |
46,426,463 (GRCm39) |
splice site |
probably benign |
|
IGL03187:Hps5
|
APN |
7 |
46,422,631 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Hps5
|
APN |
7 |
46,412,526 (GRCm39) |
missense |
probably damaging |
0.99 |
dorian_gray
|
UTSW |
7 |
46,784,145 (GRCm38) |
unclassified |
probably benign |
|
smoky
|
UTSW |
7 |
46,418,775 (GRCm39) |
nonsense |
probably null |
|
Titan
|
UTSW |
7 |
46,432,893 (GRCm39) |
critical splice donor site |
probably null |
|
toffee
|
UTSW |
7 |
46,777,075 (GRCm38) |
intron |
probably benign |
|
wombat
|
UTSW |
7 |
46,433,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Hps5
|
UTSW |
7 |
46,426,466 (GRCm39) |
splice site |
probably benign |
|
R0068:Hps5
|
UTSW |
7 |
46,426,466 (GRCm39) |
splice site |
probably benign |
|
R0141:Hps5
|
UTSW |
7 |
46,438,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Hps5
|
UTSW |
7 |
46,418,712 (GRCm39) |
splice site |
probably null |
|
R0402:Hps5
|
UTSW |
7 |
46,440,333 (GRCm39) |
splice site |
probably benign |
|
R0684:Hps5
|
UTSW |
7 |
46,432,893 (GRCm39) |
critical splice donor site |
probably null |
|
R1159:Hps5
|
UTSW |
7 |
46,421,978 (GRCm39) |
splice site |
probably null |
|
R1938:Hps5
|
UTSW |
7 |
46,422,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Hps5
|
UTSW |
7 |
46,417,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R3613:Hps5
|
UTSW |
7 |
46,426,298 (GRCm39) |
critical splice donor site |
probably null |
|
R3881:Hps5
|
UTSW |
7 |
46,421,420 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3882:Hps5
|
UTSW |
7 |
46,421,420 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3914:Hps5
|
UTSW |
7 |
46,432,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4095:Hps5
|
UTSW |
7 |
46,425,218 (GRCm39) |
missense |
probably benign |
0.01 |
R4457:Hps5
|
UTSW |
7 |
46,433,037 (GRCm39) |
missense |
probably benign |
0.00 |
R4739:Hps5
|
UTSW |
7 |
46,436,013 (GRCm39) |
missense |
probably benign |
|
R4838:Hps5
|
UTSW |
7 |
46,437,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Hps5
|
UTSW |
7 |
46,418,775 (GRCm39) |
nonsense |
probably null |
|
R5876:Hps5
|
UTSW |
7 |
46,438,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Hps5
|
UTSW |
7 |
46,416,521 (GRCm39) |
missense |
probably benign |
0.00 |
R6129:Hps5
|
UTSW |
7 |
46,421,198 (GRCm39) |
missense |
probably benign |
|
R6878:Hps5
|
UTSW |
7 |
46,433,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R7912:Hps5
|
UTSW |
7 |
46,418,826 (GRCm39) |
missense |
probably benign |
0.15 |
R7977:Hps5
|
UTSW |
7 |
46,418,475 (GRCm39) |
missense |
probably benign |
0.03 |
R7987:Hps5
|
UTSW |
7 |
46,418,475 (GRCm39) |
missense |
probably benign |
0.03 |
R8131:Hps5
|
UTSW |
7 |
46,421,312 (GRCm39) |
missense |
probably benign |
0.00 |
R8245:Hps5
|
UTSW |
7 |
46,418,485 (GRCm39) |
nonsense |
probably null |
|
R8878:Hps5
|
UTSW |
7 |
46,421,345 (GRCm39) |
missense |
probably benign |
0.07 |
R9050:Hps5
|
UTSW |
7 |
46,422,607 (GRCm39) |
missense |
probably benign |
0.00 |
R9186:Hps5
|
UTSW |
7 |
46,438,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R9278:Hps5
|
UTSW |
7 |
46,440,397 (GRCm39) |
missense |
probably benign |
0.00 |
R9290:Hps5
|
UTSW |
7 |
46,424,331 (GRCm39) |
missense |
probably damaging |
0.97 |
R9303:Hps5
|
UTSW |
7 |
46,438,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9305:Hps5
|
UTSW |
7 |
46,438,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9650:Hps5
|
UTSW |
7 |
46,425,354 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Hps5
|
UTSW |
7 |
46,412,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGTCTACACAGCTAATGTCGT -3'
(R):5'- ACAAATTACATGGCTTATTTCACGT -3'
Sequencing Primer
(F):5'- CTACACAGCTAATGTCGTGGTCAG -3'
(R):5'- AGTACACGTGTGTGCTTC -3'
|
Posted On |
2020-07-13 |