Incidental Mutation 'IGL02318:Prss27'
ID288116
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 #IGL02318
Quality Score
Status
Chromosome17
Chromosomal Location24038144-24045954 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24045597 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 245 (V245L)
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 probably benign
Transcript: ENSMUST00000059482
AA Change: V245L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762
AA Change: V245L

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Abhd18 G A 3: 40,930,227 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dvl3 A G 16: 20,523,743 R149G possibly damaging Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Echs1 A T 7: 140,111,710 L167Q probably damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gfm2 C A 13: 97,162,975 N401K probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Grk3 A G 5: 112,937,803 Y314H probably damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Luc7l3 C T 11: 94,292,993 R440Q probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A 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
IGL02096:Prss27 APN 17 24044977 missense possibly damaging 0.94
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