Incidental Mutation 'R0947:Pcsk7'
| ID |
81670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcsk7
|
| Ensembl Gene |
ENSMUSG00000035382 |
| Gene Name |
proprotein convertase subtilisin/kexin type 7 |
| Synonyms |
SPC7 |
| MMRRC Submission |
039086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0947 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45817795-45841024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45822470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 230
(R230L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039059]
[ENSMUST00000058720]
[ENSMUST00000160699]
[ENSMUST00000160811]
[ENSMUST00000161187]
[ENSMUST00000161203]
[ENSMUST00000162369]
[ENSMUST00000216672]
[ENSMUST00000215189]
[ENSMUST00000213854]
[ENSMUST00000213659]
[ENSMUST00000162699]
|
| AlphaFold |
Q61139 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039059
AA Change: R230L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382
AA Change: R230L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:S8_pro-domain
|
52 |
140 |
9.7e-21 |
PFAM |
|
Pfam:Peptidase_S8
|
177 |
464 |
4.7e-43 |
PFAM |
|
Pfam:P_proprotein
|
524 |
611 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058720
|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
235 |
382 |
3e-5 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
|
RING
|
620 |
664 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160699
|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
235 |
382 |
3e-5 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
|
RING
|
620 |
664 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160811
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161187
|
| SMART Domains |
Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
65 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
RING
|
465 |
509 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161203
|
| SMART Domains |
Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
80 |
227 |
2e-5 |
SMART |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
RING
|
500 |
544 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162369
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216672
AA Change: R230L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215189
AA Change: R230L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213854
AA Change: G63C
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to LPS. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
| Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
| Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
| Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,030,935 (GRCm39) |
S228P |
probably damaging |
Het |
| Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Racgap1 |
C |
T |
15: 99,522,195 (GRCm39) |
A458T |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
| Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,536 (GRCm39) |
T11A |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,914,958 (GRCm39) |
D370E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,398 (GRCm39) |
I372T |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,062 (GRCm39) |
Y964H |
possibly damaging |
Het |
|
| Other mutations in Pcsk7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Pcsk7
|
APN |
9 |
45,838,958 (GRCm39) |
missense |
probably benign |
|
|
IGL01081:Pcsk7
|
APN |
9 |
45,840,005 (GRCm39) |
missense |
probably benign |
|
|
IGL02634:Pcsk7
|
APN |
9 |
45,830,560 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02999:Pcsk7
|
APN |
9 |
45,838,897 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03115:Pcsk7
|
APN |
9 |
45,825,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Pcsk7
|
APN |
9 |
45,820,778 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0243:Pcsk7
|
UTSW |
9 |
45,827,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Pcsk7
|
UTSW |
9 |
45,824,309 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1443:Pcsk7
|
UTSW |
9 |
45,837,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Pcsk7
|
UTSW |
9 |
45,825,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Pcsk7
|
UTSW |
9 |
45,839,917 (GRCm39) |
missense |
probably benign |
|
|
R2939:Pcsk7
|
UTSW |
9 |
45,827,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Pcsk7
|
UTSW |
9 |
45,838,057 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4039:Pcsk7
|
UTSW |
9 |
45,839,305 (GRCm39) |
splice site |
probably null |
|
|
R4348:Pcsk7
|
UTSW |
9 |
45,830,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Pcsk7
|
UTSW |
9 |
45,830,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Pcsk7
|
UTSW |
9 |
45,837,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6214:Pcsk7
|
UTSW |
9 |
45,821,674 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6215:Pcsk7
|
UTSW |
9 |
45,821,674 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6408:Pcsk7
|
UTSW |
9 |
45,820,994 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7338:Pcsk7
|
UTSW |
9 |
45,837,287 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7355:Pcsk7
|
UTSW |
9 |
45,820,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7475:Pcsk7
|
UTSW |
9 |
45,838,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Pcsk7
|
UTSW |
9 |
45,838,971 (GRCm39) |
splice site |
probably null |
|
|
R8305:Pcsk7
|
UTSW |
9 |
45,821,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Pcsk7
|
UTSW |
9 |
45,830,589 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8973:Pcsk7
|
UTSW |
9 |
45,838,940 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9541:Pcsk7
|
UTSW |
9 |
45,820,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9571:Pcsk7
|
UTSW |
9 |
45,820,907 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACCCTGATTTGGGAGTGGAAAC -3'
(R):5'- TGTGACATACCACAGCCCTGAAAAG -3'
Sequencing Primer
(F):5'- GGGAGTGGAAACTTCCAGTTC -3'
(R):5'- CTTTAGGCTACAAACACTGAGGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation