Incidental Mutation 'R8240:Prss27'
ID 640931
Institutional Source Beutler Lab
Gene Symbol Prss27
Ensembl Gene ENSMUSG00000050762
Gene Name serine protease 27
Synonyms Pancreasin, Mpn, marapsin, CAPH2
MMRRC Submission 067671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24257217-24264923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24263919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 202 (V202I)
Ref Sequence ENSEMBL: ENSMUSP00000056483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017090] [ENSMUST00000059482]
AlphaFold Q8BJR6
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: V202I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762
AA Change: V202I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A T 5: 114,961,472 (GRCm39) V12E probably benign Het
Ahnak2 A G 12: 112,741,082 (GRCm39) F997L probably benign Het
Baiap3 A T 17: 25,464,288 (GRCm39) probably null Het
Cct6b A G 11: 82,614,650 (GRCm39) I446T probably damaging Het
Cfap206 A G 4: 34,728,902 (GRCm39) M1T probably null Het
Clca4a T C 3: 144,676,488 (GRCm39) Y64C probably damaging Het
Col24a1 A T 3: 145,213,457 (GRCm39) Q1354L probably benign Het
Coro7 A G 16: 4,486,660 (GRCm39) V171A probably damaging Het
Cyp3a44 G A 5: 145,725,257 (GRCm39) L315F probably damaging Het
Frem1 T A 4: 82,874,485 (GRCm39) D1379V probably benign Het
Gstm6 T A 3: 107,849,453 (GRCm39) D119V probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hibch T A 1: 52,940,494 (GRCm39) probably null Het
Il1rap G A 16: 26,520,001 (GRCm39) E356K probably benign Het
Itm2c G T 1: 85,822,457 (GRCm39) G25C probably benign Het
Klhl8 C T 5: 104,015,392 (GRCm39) V511I probably damaging Het
Mcee A G 7: 64,061,665 (GRCm39) H156R possibly damaging Het
Myh3 C A 11: 66,983,196 (GRCm39) Q908K probably benign Het
Ncoa7 A G 10: 30,567,725 (GRCm39) S318P probably benign Het
Nhsl1 A G 10: 18,402,487 (GRCm39) N1208D probably benign Het
Or10p21 T A 10: 128,847,766 (GRCm39) I204K possibly damaging Het
Or4a15 C T 2: 89,192,896 (GRCm39) M292I probably benign Het
P2rx7 C T 5: 122,793,096 (GRCm39) P140S probably damaging Het
Plcd4 C G 1: 74,593,660 (GRCm39) H262D probably benign Het
Prps1l1 T C 12: 35,035,140 (GRCm39) V85A probably damaging Het
Rtn4r A T 16: 17,969,258 (GRCm39) M229L probably benign Het
Slc43a1 A G 2: 84,690,167 (GRCm39) H491R possibly damaging Het
Slc44a2 A G 9: 21,253,481 (GRCm39) D83G probably benign Het
Spag6l A G 16: 16,580,889 (GRCm39) V486A probably damaging Het
Sspo A T 6: 48,460,436 (GRCm39) Q3408L possibly damaging Het
Tasor2 T C 13: 3,624,388 (GRCm39) D1854G probably benign Het
Tjp3 G A 10: 81,109,641 (GRCm39) T854I probably benign Het
Tmsb10b A C 7: 24,561,805 (GRCm39) I35L probably benign Het
Trim30a C T 7: 104,070,663 (GRCm39) G250D probably benign Het
Ttll1 G T 15: 83,376,783 (GRCm39) D313E probably damaging Het
Zfp160 A T 17: 21,246,350 (GRCm39) N300I probably damaging Het
Zfp458 C T 13: 67,406,190 (GRCm39) C83Y probably damaging Het
Zmym4 A T 4: 126,798,188 (GRCm39) probably null Het
Other mutations in Prss27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:Prss27 APN 17 24,257,345 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAAGTTCTGAGGAAGCCCGG -3'
(R):5'- TATCATGCCAGCTAACGGAAC -3'

Sequencing Primer
(F):5'- CTGAGGAAGCCCGGGAAGG -3'
(R):5'- CTCATATGTGACTCCTGTGAACGAG -3'
Posted On 2020-07-28