Incidental Mutation 'IGL01574:Prss27'
ID |
91200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss27
|
Ensembl Gene |
ENSMUSG00000050762 |
Gene Name |
serine protease 27 |
Synonyms |
Pancreasin, Mpn, marapsin, CAPH2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01574
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24257217-24264923 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 24257345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059482]
|
AlphaFold |
Q8BJR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059482
|
SMART Domains |
Protein: ENSMUSP00000056483 Gene: ENSMUSG00000050762
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Tryp_SPc
|
37 |
275 |
2.29e-92 |
SMART |
low complexity region
|
283 |
301 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for a gene trap allele develop normally and are fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd26 |
T |
G |
6: 118,516,659 (GRCm39) |
T502P |
probably damaging |
Het |
Apoa4 |
C |
A |
9: 46,154,283 (GRCm39) |
Q295K |
probably benign |
Het |
Asxl3 |
T |
G |
18: 22,656,621 (GRCm39) |
C1544G |
probably benign |
Het |
Ccl7 |
G |
A |
11: 81,937,451 (GRCm39) |
V62I |
probably damaging |
Het |
Ceacam20 |
C |
A |
7: 19,708,247 (GRCm39) |
T284K |
possibly damaging |
Het |
Ces4a |
A |
T |
8: 105,871,859 (GRCm39) |
|
probably benign |
Het |
Col4a2 |
G |
T |
8: 11,489,306 (GRCm39) |
G1147V |
probably damaging |
Het |
Gtf3c4 |
T |
C |
2: 28,724,448 (GRCm39) |
D428G |
possibly damaging |
Het |
Itgb2 |
G |
A |
10: 77,393,798 (GRCm39) |
V413I |
possibly damaging |
Het |
Itgb7 |
T |
G |
15: 102,135,975 (GRCm39) |
E20A |
possibly damaging |
Het |
Kank2 |
C |
A |
9: 21,705,900 (GRCm39) |
G373W |
probably damaging |
Het |
Kif1a |
T |
A |
1: 93,010,062 (GRCm39) |
I28F |
probably damaging |
Het |
Klhdc7b |
T |
C |
15: 89,271,572 (GRCm39) |
V818A |
probably benign |
Het |
Klhl20 |
T |
C |
1: 160,921,296 (GRCm39) |
Y53C |
probably damaging |
Het |
Matcap2 |
T |
C |
9: 22,355,426 (GRCm39) |
V487A |
possibly damaging |
Het |
Mroh1 |
A |
G |
15: 76,316,488 (GRCm39) |
N772S |
probably benign |
Het |
Mtmr4 |
C |
T |
11: 87,491,473 (GRCm39) |
T146I |
probably benign |
Het |
Nup210 |
C |
T |
6: 91,017,546 (GRCm39) |
V1152I |
probably benign |
Het |
Pclo |
T |
A |
5: 14,763,462 (GRCm39) |
D3978E |
unknown |
Het |
Pkd1l3 |
T |
C |
8: 110,350,403 (GRCm39) |
L416P |
probably benign |
Het |
Pkn2 |
T |
C |
3: 142,544,992 (GRCm39) |
M161V |
possibly damaging |
Het |
Plxnb2 |
T |
C |
15: 89,046,886 (GRCm39) |
|
probably null |
Het |
Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Tmem30c |
T |
A |
16: 57,097,105 (GRCm39) |
I152F |
possibly damaging |
Het |
Usp2 |
G |
A |
9: 44,005,100 (GRCm39) |
R378H |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,488,572 (GRCm39) |
I609N |
possibly damaging |
Het |
Vmn2r51 |
T |
A |
7: 9,836,381 (GRCm39) |
E133D |
probably damaging |
Het |
Zkscan3 |
A |
T |
13: 21,578,261 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Prss27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01633:Prss27
|
APN |
17 |
24,264,650 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02096:Prss27
|
APN |
17 |
24,263,951 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02318:Prss27
|
APN |
17 |
24,264,571 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02491:Prss27
|
APN |
17 |
24,263,229 (GRCm39) |
splice site |
probably benign |
|
IGL02715:Prss27
|
APN |
17 |
24,263,953 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1582:Prss27
|
UTSW |
17 |
24,263,877 (GRCm39) |
missense |
probably benign |
0.11 |
R5078:Prss27
|
UTSW |
17 |
24,263,414 (GRCm39) |
nonsense |
probably null |
|
R5468:Prss27
|
UTSW |
17 |
24,257,287 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6415:Prss27
|
UTSW |
17 |
24,261,882 (GRCm39) |
nonsense |
probably null |
|
R6450:Prss27
|
UTSW |
17 |
24,263,988 (GRCm39) |
nonsense |
probably null |
|
R6477:Prss27
|
UTSW |
17 |
24,263,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R7143:Prss27
|
UTSW |
17 |
24,264,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R7285:Prss27
|
UTSW |
17 |
24,264,665 (GRCm39) |
missense |
probably benign |
0.01 |
R7447:Prss27
|
UTSW |
17 |
24,264,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7825:Prss27
|
UTSW |
17 |
24,261,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R8240:Prss27
|
UTSW |
17 |
24,263,919 (GRCm39) |
missense |
probably benign |
0.04 |
R9371:Prss27
|
UTSW |
17 |
24,257,141 (GRCm39) |
start gained |
probably benign |
|
R9767:Prss27
|
UTSW |
17 |
24,257,283 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
|
Posted On |
2013-12-09 |