Incidental Mutation 'IGL02096:Prss27'
ID281124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss27
Ensembl Gene ENSMUSG00000050762
Gene Nameprotease, serine 27
SynonymsMpn, marapsin, Pancreasin, CAPH2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02096
Quality Score
Status
Chromosome17
Chromosomal Location24038144-24045954 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24044977 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 212 (K212N)
Ref Sequence ENSEMBL: ENSMUSP00000056483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017090] [ENSMUST00000059482]
Predicted Effect probably benign
Transcript: ENSMUST00000017090
SMART Domains Protein: ENSMUSP00000017090
Gene: ENSMUSG00000016946

DomainStartEndE-ValueType
low complexity region 8 31 N/A INTRINSIC
BTB 44 146 2.76e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000059482
AA Change: K212N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762
AA Change: K212N

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik C A 13: 63,061,089 A340E probably benign Het
Abca9 A G 11: 110,102,533 L1584P probably damaging Het
Abca9 G T 11: 110,165,980 H5N probably benign Het
Acox1 A T 11: 116,178,198 I371N probably damaging Het
Bmp5 A G 9: 75,898,551 N445S probably damaging Het
Cacna1b G T 2: 24,678,915 A999E probably benign Het
Cdc27 A T 11: 104,528,568 probably benign Het
D430042O09Rik G A 7: 125,814,821 C379Y probably benign Het
Dmxl2 T C 9: 54,401,065 E2134G possibly damaging Het
Dnttip2 A G 3: 122,284,413 N698S possibly damaging Het
Duox1 A T 2: 122,344,174 K1271M probably damaging Het
Dync1h1 T C 12: 110,632,820 Y1870H possibly damaging Het
Edem3 A G 1: 151,804,719 T532A probably benign Het
Epx A T 11: 87,869,468 L440Q probably damaging Het
F11 A G 8: 45,246,754 F432L probably benign Het
Fam185a C A 5: 21,425,343 P59Q probably damaging Het
Fsip2 A G 2: 82,991,860 D5979G possibly damaging Het
Furin A G 7: 80,393,459 S335P probably damaging Het
Gm10130 T C 2: 150,323,714 Y5H probably damaging Het
Gtf3c1 T A 7: 125,659,112 Q1262L probably damaging Het
Hmmr A T 11: 40,707,429 V652E probably benign Het
Iapp A T 6: 142,303,473 N84I probably benign Het
Mmp17 C T 5: 129,598,688 Q304* probably null Het
Mpl T C 4: 118,457,136 T55A possibly damaging Het
Mst1r G A 9: 107,917,279 R1219H probably damaging Het
Muc6 T A 7: 141,639,850 probably benign Het
Nalcn C T 14: 123,594,503 V120I probably benign Het
Nt5dc1 A T 10: 34,399,810 C134* probably null Het
Obscn A C 11: 59,080,704 N2228K probably damaging Het
Olfr135 T A 17: 38,209,183 *313R probably null Het
Osbpl10 T C 9: 115,216,994 M566T possibly damaging Het
Pabpc1l G A 2: 164,044,347 V466I probably benign Het
Pdcd11 T G 19: 47,106,421 V548G probably benign Het
Ranbp2 T A 10: 58,461,967 S399T probably damaging Het
Rgs19 A G 2: 181,689,283 S159P probably damaging Het
Sh2b1 A G 7: 126,469,293 S449P probably damaging Het
Slc6a18 T A 13: 73,672,751 Y238F probably benign Het
Stx11 T C 10: 12,941,480 I167V probably benign Het
Sucnr1 A G 3: 60,086,950 M300V possibly damaging Het
Synj2 A G 17: 5,990,353 T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 I261N probably damaging Het
Vmn2r43 G A 7: 8,257,513 probably benign Het
Vmn2r45 A G 7: 8,481,444 M454T probably damaging Het
Vsig2 T A 9: 37,539,955 S51T probably damaging Het
Wdr41 T C 13: 95,017,456 probably benign Het
Wdr6 A C 9: 108,576,553 L44V probably damaging Het
Zfp592 T C 7: 81,025,048 Y587H probably damaging Het
Zfp735 A T 11: 73,711,428 K399N probably benign Het
Other mutations in Prss27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Prss27 APN 17 24038371 splice site probably benign
IGL01633:Prss27 APN 17 24045676 missense probably damaging 1.00
IGL02318:Prss27 APN 17 24045597 missense probably benign 0.01
IGL02491:Prss27 APN 17 24044255 splice site probably benign
IGL02715:Prss27 APN 17 24044979 missense possibly damaging 0.94
R1582:Prss27 UTSW 17 24044903 missense probably benign 0.11
R5078:Prss27 UTSW 17 24044440 nonsense probably null
R5468:Prss27 UTSW 17 24038313 missense possibly damaging 0.53
R6415:Prss27 UTSW 17 24042908 nonsense probably null
R6450:Prss27 UTSW 17 24045014 nonsense probably null
R6477:Prss27 UTSW 17 24044261 missense probably damaging 1.00
Posted On2015-04-16