Incidental Mutation 'R1564:Pcsk5'
| ID |
175161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcsk5
|
| Ensembl Gene |
ENSMUSG00000024713 |
| Gene Name |
proprotein convertase subtilisin/kexin type 5 |
| Synonyms |
PC5A, PC5/6A, PC6, b2b1549Clo, b2b585Clo, SPC6 |
| MMRRC Submission |
039603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1564 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
17409683-17814996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17632120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 349
(Y349H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025618]
[ENSMUST00000050715]
|
| AlphaFold |
Q04592 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025618
AA Change: Y349H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025618
Gene: ENSMUSG00000024713
AA Change: Y349H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
Pfam:S8_pro-domain
|
40 |
116 |
4.6e-27 |
PFAM |
|
Pfam:Peptidase_S8
|
164 |
447 |
2.1e-46 |
PFAM |
|
Pfam:P_proprotein
|
507 |
597 |
2.1e-33 |
PFAM |
|
FU
|
632 |
682 |
4.92e-13 |
SMART |
|
FU
|
685 |
732 |
4.84e-12 |
SMART |
|
EGF_like
|
690 |
723 |
3.29e1 |
SMART |
|
FU
|
736 |
779 |
1.29e-7 |
SMART |
|
FU
|
781 |
826 |
5.74e-14 |
SMART |
|
FU
|
834 |
881 |
2.23e-11 |
SMART |
|
EGF_like
|
839 |
870 |
3.43e1 |
SMART |
|
FU
|
884 |
929 |
1.84e-12 |
SMART |
|
FU
|
931 |
981 |
1.47e-11 |
SMART |
|
FU
|
984 |
1030 |
1e-4 |
SMART |
|
EGF_like
|
989 |
1020 |
2.92e1 |
SMART |
|
FU
|
1034 |
1079 |
5.04e-10 |
SMART |
|
FU
|
1081 |
1123 |
3.08e-5 |
SMART |
|
FU
|
1127 |
1168 |
4.88e-8 |
SMART |
|
FU
|
1206 |
1248 |
2.7e-10 |
SMART |
|
EGF_like
|
1211 |
1239 |
5.91e1 |
SMART |
|
FU
|
1252 |
1299 |
1.48e-7 |
SMART |
|
EGF
|
1264 |
1305 |
1.69e1 |
SMART |
|
FU
|
1301 |
1345 |
2.31e-9 |
SMART |
|
FU
|
1347 |
1390 |
8.98e-7 |
SMART |
|
EGF_like
|
1352 |
1381 |
7.23e1 |
SMART |
|
FU
|
1392 |
1438 |
1.04e-11 |
SMART |
|
FU
|
1442 |
1487 |
6.8e-7 |
SMART |
|
EGF
|
1447 |
1476 |
2.16e1 |
SMART |
|
FU
|
1491 |
1536 |
3.37e-11 |
SMART |
|
FU
|
1540 |
1585 |
9.32e-14 |
SMART |
|
EGF_like
|
1545 |
1576 |
2.8e1 |
SMART |
|
FU
|
1589 |
1636 |
1.39e-12 |
SMART |
|
FU
|
1640 |
1685 |
6.49e-13 |
SMART |
|
EGF_like
|
1645 |
1676 |
6.67e1 |
SMART |
|
FU
|
1691 |
1738 |
7.01e-9 |
SMART |
|
transmembrane domain
|
1770 |
1789 |
N/A |
INTRINSIC |
|
low complexity region
|
1827 |
1840 |
N/A |
INTRINSIC |
|
low complexity region
|
1858 |
1876 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050715
AA Change: Y349H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050272
Gene: ENSMUSG00000024713
AA Change: Y349H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
PDB:1KN6|A
|
35 |
116 |
6e-11 |
PDB |
|
Pfam:Peptidase_S8
|
168 |
456 |
2.9e-59 |
PFAM |
|
Pfam:P_proprotein
|
507 |
597 |
1.5e-34 |
PFAM |
|
FU
|
632 |
682 |
4.92e-13 |
SMART |
|
FU
|
685 |
732 |
4.84e-12 |
SMART |
|
EGF_like
|
690 |
723 |
3.29e1 |
SMART |
|
FU
|
736 |
779 |
1.29e-7 |
SMART |
|
FU
|
781 |
826 |
5.74e-14 |
SMART |
|
FU
|
834 |
884 |
1.4e-8 |
SMART |
|
EGF_like
|
839 |
870 |
3.43e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a subtilisin-like proprotein convertase that mediates posttranslational endoproteolytic processing of various proprotein substrates traversing the secretory pathway. The encoded protein is an inactive zymogen that undergoes autoproteolytic processing in the endoplasmic reticulum and the Golgi network to generate an active enzyme. Mice lacking the encoded protein die at an early embryonic stage. Conditional inactivation this gene in the epiblast but not in the extraembryonic tissue bypasses embryonic lethality but results in death at birth. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null mutation in this gene display embryonic lethality between E4.5-E7.5. Mice homozygous for ENU-induced mutations exhibit heterotaxia with congenital heart defects and immotile respiratory cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,384,316 (GRCm39) |
Q3923* |
probably null |
Het |
| Abcc12 |
T |
A |
8: 87,244,115 (GRCm39) |
T1013S |
probably benign |
Het |
| Acad9 |
T |
C |
3: 36,143,578 (GRCm39) |
I558T |
possibly damaging |
Het |
| Agbl4 |
C |
A |
4: 110,812,761 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,283,470 (GRCm39) |
|
probably null |
Het |
| Aktip |
A |
G |
8: 91,857,709 (GRCm39) |
M1T |
probably null |
Het |
| Apc |
G |
T |
18: 34,448,202 (GRCm39) |
Q1665H |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,467,452 (GRCm39) |
D1916G |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,609,817 (GRCm39) |
V365A |
probably benign |
Het |
| Bank1 |
C |
A |
3: 135,919,602 (GRCm39) |
E265* |
probably null |
Het |
| Bbs7 |
A |
T |
3: 36,629,944 (GRCm39) |
D578E |
probably damaging |
Het |
| Bin3 |
T |
C |
14: 70,372,218 (GRCm39) |
F172L |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,245,377 (GRCm39) |
D350G |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,596,835 (GRCm39) |
C80* |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,218,156 (GRCm39) |
F164L |
possibly damaging |
Het |
| Cenpj |
T |
C |
14: 56,789,523 (GRCm39) |
D842G |
probably benign |
Het |
| Col12a1 |
C |
A |
9: 79,521,122 (GRCm39) |
R2781L |
probably damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,724,024 (GRCm39) |
C213* |
probably null |
Het |
| Defb33 |
T |
A |
8: 21,387,597 (GRCm39) |
C45S |
possibly damaging |
Het |
| Dolk |
A |
T |
2: 30,175,633 (GRCm39) |
N137K |
probably damaging |
Het |
| Fam171b |
G |
A |
2: 83,710,628 (GRCm39) |
E767K |
probably damaging |
Het |
| Fbxl20 |
A |
T |
11: 97,989,312 (GRCm39) |
D189E |
probably damaging |
Het |
| Gm10643 |
A |
T |
8: 84,791,111 (GRCm39) |
M1K |
probably null |
Het |
| Gm572 |
T |
G |
4: 148,735,643 (GRCm39) |
I24S |
possibly damaging |
Het |
| Gnpda1 |
A |
G |
18: 38,471,142 (GRCm39) |
|
probably null |
Het |
| Gpr141b |
T |
C |
13: 19,913,470 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
G |
T |
2: 180,875,021 (GRCm39) |
N1824K |
probably benign |
Het |
| Insl3 |
G |
T |
8: 72,142,935 (GRCm39) |
A99S |
possibly damaging |
Het |
| Lpin2 |
G |
A |
17: 71,532,055 (GRCm39) |
V137I |
probably benign |
Het |
| Lrrc9 |
A |
G |
12: 72,533,827 (GRCm39) |
E1032G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,353,150 (GRCm39) |
T1510A |
probably benign |
Het |
| Mnd1 |
T |
C |
3: 84,023,738 (GRCm39) |
E116G |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,287 (GRCm39) |
|
probably null |
Het |
| Myoz3 |
G |
A |
18: 60,713,914 (GRCm39) |
S23L |
probably benign |
Het |
| Napsa |
G |
T |
7: 44,236,073 (GRCm39) |
V371F |
probably damaging |
Het |
| Nefh |
T |
C |
11: 4,889,878 (GRCm39) |
T914A |
unknown |
Het |
| Neurod2 |
A |
T |
11: 98,218,250 (GRCm39) |
C305S |
probably damaging |
Het |
| Nmnat3 |
T |
C |
9: 98,236,219 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
G |
1: 169,326,362 (GRCm39) |
V463A |
unknown |
Het |
| Olfml1 |
A |
T |
7: 107,170,346 (GRCm39) |
T78S |
possibly damaging |
Het |
| Opcml |
G |
A |
9: 28,814,612 (GRCm39) |
C288Y |
probably damaging |
Het |
| Oprl1 |
T |
C |
2: 181,360,733 (GRCm39) |
I222T |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,967 (GRCm39) |
V118I |
probably benign |
Het |
| Or4c104 |
A |
T |
2: 88,587,000 (GRCm39) |
N6K |
possibly damaging |
Het |
| Or4c122 |
G |
T |
2: 89,080,016 (GRCm39) |
N7K |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,495,884 (GRCm39) |
F70L |
probably benign |
Het |
| Pla2g4d |
C |
A |
2: 120,099,384 (GRCm39) |
R706L |
possibly damaging |
Het |
| Pmm1 |
A |
G |
15: 81,840,401 (GRCm39) |
Y55H |
probably damaging |
Het |
| Polb |
A |
G |
8: 23,120,357 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
T |
C |
13: 22,167,523 (GRCm39) |
I598T |
possibly damaging |
Het |
| Pxmp2 |
C |
T |
5: 110,429,062 (GRCm39) |
|
probably null |
Het |
| Rbm39 |
G |
T |
2: 155,996,177 (GRCm39) |
L403I |
probably benign |
Het |
| Rec8 |
T |
C |
14: 55,859,732 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
C |
4: 43,912,061 (GRCm39) |
I190T |
probably benign |
Het |
| Rer1 |
A |
T |
4: 155,160,050 (GRCm39) |
I166N |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,567 (GRCm39) |
K60* |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,859,768 (GRCm39) |
T152M |
probably damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,200 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,344,979 (GRCm39) |
R503M |
probably damaging |
Het |
| Scn4a |
C |
A |
11: 106,236,367 (GRCm39) |
D298Y |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,648 (GRCm39) |
F1679S |
probably damaging |
Het |
| Scyl3 |
G |
T |
1: 163,767,553 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
A |
G |
7: 128,368,005 (GRCm39) |
|
probably null |
Het |
| She |
C |
T |
3: 89,756,921 (GRCm39) |
A325V |
possibly damaging |
Het |
| Skint2 |
T |
G |
4: 112,483,195 (GRCm39) |
M200R |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,485,981 (GRCm39) |
C35S |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,070,819 (GRCm39) |
S393T |
probably damaging |
Het |
| Slc6a19 |
C |
T |
13: 73,834,243 (GRCm39) |
V320M |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,674,249 (GRCm39) |
D579G |
possibly damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,383 (GRCm39) |
R479C |
probably damaging |
Het |
| Syngr3 |
G |
C |
17: 24,905,642 (GRCm39) |
|
probably null |
Het |
| Tas2r107 |
A |
C |
6: 131,636,785 (GRCm39) |
I88R |
probably damaging |
Het |
| Them7 |
A |
T |
2: 105,128,259 (GRCm39) |
N80I |
probably damaging |
Het |
| Tmprss7 |
C |
T |
16: 45,482,516 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,764,369 (GRCm39) |
N624D |
possibly damaging |
Het |
| Trpm2 |
T |
G |
10: 77,778,833 (GRCm39) |
I378L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,554,876 (GRCm39) |
W30676L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,774,384 (GRCm39) |
V2220A |
unknown |
Het |
| Uba6 |
T |
C |
5: 86,302,266 (GRCm39) |
T134A |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,418,678 (GRCm39) |
S81P |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,548 (GRCm39) |
S606T |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 21,967,155 (GRCm39) |
A577S |
probably damaging |
Het |
|
| Other mutations in Pcsk5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Pcsk5
|
APN |
19 |
17,488,785 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00423:Pcsk5
|
APN |
19 |
17,619,923 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01315:Pcsk5
|
APN |
19 |
17,429,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01372:Pcsk5
|
APN |
19 |
17,595,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01738:Pcsk5
|
APN |
19 |
17,411,144 (GRCm39) |
splice site |
probably benign |
|
|
IGL01874:Pcsk5
|
APN |
19 |
17,573,041 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02070:Pcsk5
|
APN |
19 |
17,416,406 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02311:Pcsk5
|
APN |
19 |
17,410,784 (GRCm39) |
nonsense |
probably null |
|
|
IGL02436:Pcsk5
|
APN |
19 |
17,542,072 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02498:Pcsk5
|
APN |
19 |
17,488,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02504:Pcsk5
|
APN |
19 |
17,455,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02664:Pcsk5
|
APN |
19 |
17,434,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02735:Pcsk5
|
APN |
19 |
17,652,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Pcsk5
|
APN |
19 |
17,424,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Pcsk5
|
UTSW |
19 |
17,416,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Pcsk5
|
UTSW |
19 |
17,632,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Pcsk5
|
UTSW |
19 |
17,632,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Pcsk5
|
UTSW |
19 |
17,542,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0032:Pcsk5
|
UTSW |
19 |
17,542,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0373:Pcsk5
|
UTSW |
19 |
17,632,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Pcsk5
|
UTSW |
19 |
17,692,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0843:Pcsk5
|
UTSW |
19 |
17,632,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Pcsk5
|
UTSW |
19 |
17,542,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Pcsk5
|
UTSW |
19 |
17,814,512 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1435:Pcsk5
|
UTSW |
19 |
17,541,246 (GRCm39) |
nonsense |
probably null |
|
|
R1471:Pcsk5
|
UTSW |
19 |
17,545,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Pcsk5
|
UTSW |
19 |
17,413,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1614:Pcsk5
|
UTSW |
19 |
17,492,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Pcsk5
|
UTSW |
19 |
17,424,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1671:Pcsk5
|
UTSW |
19 |
17,432,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Pcsk5
|
UTSW |
19 |
17,729,458 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1793:Pcsk5
|
UTSW |
19 |
17,432,114 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1855:Pcsk5
|
UTSW |
19 |
17,492,556 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1909:Pcsk5
|
UTSW |
19 |
17,410,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1959:Pcsk5
|
UTSW |
19 |
17,410,782 (GRCm39) |
missense |
unknown |
|
|
R2006:Pcsk5
|
UTSW |
19 |
17,455,280 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2045:Pcsk5
|
UTSW |
19 |
17,558,508 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2061:Pcsk5
|
UTSW |
19 |
17,432,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2110:Pcsk5
|
UTSW |
19 |
17,450,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Pcsk5
|
UTSW |
19 |
17,452,198 (GRCm39) |
nonsense |
probably null |
|
|
R2496:Pcsk5
|
UTSW |
19 |
17,443,522 (GRCm39) |
nonsense |
probably null |
|
|
R4115:Pcsk5
|
UTSW |
19 |
17,410,783 (GRCm39) |
missense |
unknown |
|
|
R4504:Pcsk5
|
UTSW |
19 |
17,429,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Pcsk5
|
UTSW |
19 |
17,538,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4683:Pcsk5
|
UTSW |
19 |
17,450,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Pcsk5
|
UTSW |
19 |
17,502,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Pcsk5
|
UTSW |
19 |
17,814,512 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4789:Pcsk5
|
UTSW |
19 |
17,410,963 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4880:Pcsk5
|
UTSW |
19 |
17,425,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Pcsk5
|
UTSW |
19 |
17,492,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5114:Pcsk5
|
UTSW |
19 |
17,652,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Pcsk5
|
UTSW |
19 |
17,440,798 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5193:Pcsk5
|
UTSW |
19 |
17,542,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5279:Pcsk5
|
UTSW |
19 |
17,573,022 (GRCm39) |
splice site |
probably null |
|
|
R5334:Pcsk5
|
UTSW |
19 |
17,439,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5369:Pcsk5
|
UTSW |
19 |
17,558,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Pcsk5
|
UTSW |
19 |
17,440,720 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5547:Pcsk5
|
UTSW |
19 |
17,729,488 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5630:Pcsk5
|
UTSW |
19 |
17,553,195 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5805:Pcsk5
|
UTSW |
19 |
17,434,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6063:Pcsk5
|
UTSW |
19 |
17,432,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6130:Pcsk5
|
UTSW |
19 |
17,488,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6153:Pcsk5
|
UTSW |
19 |
17,488,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6163:Pcsk5
|
UTSW |
19 |
17,450,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Pcsk5
|
UTSW |
19 |
17,814,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6228:Pcsk5
|
UTSW |
19 |
17,558,631 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6426:Pcsk5
|
UTSW |
19 |
17,595,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Pcsk5
|
UTSW |
19 |
17,488,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6648:Pcsk5
|
UTSW |
19 |
17,553,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6789:Pcsk5
|
UTSW |
19 |
17,434,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6807:Pcsk5
|
UTSW |
19 |
17,549,986 (GRCm39) |
splice site |
probably null |
|
|
R6837:Pcsk5
|
UTSW |
19 |
17,416,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6998:Pcsk5
|
UTSW |
19 |
17,450,476 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7051:Pcsk5
|
UTSW |
19 |
17,411,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7164:Pcsk5
|
UTSW |
19 |
17,429,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Pcsk5
|
UTSW |
19 |
17,455,241 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7348:Pcsk5
|
UTSW |
19 |
17,434,182 (GRCm39) |
nonsense |
probably null |
|
|
R7360:Pcsk5
|
UTSW |
19 |
17,492,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7407:Pcsk5
|
UTSW |
19 |
17,652,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Pcsk5
|
UTSW |
19 |
17,487,600 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7521:Pcsk5
|
UTSW |
19 |
17,432,196 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7525:Pcsk5
|
UTSW |
19 |
17,619,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Pcsk5
|
UTSW |
19 |
17,814,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7566:Pcsk5
|
UTSW |
19 |
17,549,821 (GRCm39) |
missense |
probably benign |
|
|
R7631:Pcsk5
|
UTSW |
19 |
17,542,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Pcsk5
|
UTSW |
19 |
17,434,168 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7677:Pcsk5
|
UTSW |
19 |
17,558,593 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7711:Pcsk5
|
UTSW |
19 |
17,416,444 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7903:Pcsk5
|
UTSW |
19 |
17,549,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7938:Pcsk5
|
UTSW |
19 |
17,443,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8025:Pcsk5
|
UTSW |
19 |
17,538,415 (GRCm39) |
intron |
probably benign |
|
|
R8032:Pcsk5
|
UTSW |
19 |
17,692,151 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8064:Pcsk5
|
UTSW |
19 |
17,692,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Pcsk5
|
UTSW |
19 |
17,487,530 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8193:Pcsk5
|
UTSW |
19 |
17,563,415 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8408:Pcsk5
|
UTSW |
19 |
17,410,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8466:Pcsk5
|
UTSW |
19 |
17,549,864 (GRCm39) |
nonsense |
probably null |
|
|
R8739:Pcsk5
|
UTSW |
19 |
17,432,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8753:Pcsk5
|
UTSW |
19 |
17,446,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8797:Pcsk5
|
UTSW |
19 |
17,443,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8944:Pcsk5
|
UTSW |
19 |
17,452,275 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9041:Pcsk5
|
UTSW |
19 |
17,538,132 (GRCm39) |
nonsense |
probably null |
|
|
R9135:Pcsk5
|
UTSW |
19 |
17,563,472 (GRCm39) |
missense |
|
|
|
R9288:Pcsk5
|
UTSW |
19 |
17,814,345 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9406:Pcsk5
|
UTSW |
19 |
17,771,097 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9581:Pcsk5
|
UTSW |
19 |
17,432,196 (GRCm39) |
missense |
probably benign |
|
|
R9592:Pcsk5
|
UTSW |
19 |
17,652,899 (GRCm39) |
nonsense |
probably null |
|
|
R9659:Pcsk5
|
UTSW |
19 |
17,455,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Pcsk5
|
UTSW |
19 |
17,455,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Pcsk5
|
UTSW |
19 |
17,452,236 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0063:Pcsk5
|
UTSW |
19 |
17,424,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pcsk5
|
UTSW |
19 |
17,440,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTTGCCGTATGATACTCACAC -3'
(R):5'- CCCCATTTGCATCATGGGAACAGAG -3'
Sequencing Primer
(F):5'- CGTATGATACTCACACTCATGTTC -3'
(R):5'- tgggaacagagattgtgttgg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation