Incidental Mutation 'R4584:Prss1l'
ID 343910
Institutional Source Beutler Lab
Gene Symbol Prss1l
Ensembl Gene ENSMUSG00000058119
Gene Name serine protease 1 (trypsin 1) like
Synonyms Gm5771
MMRRC Submission 041805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4584 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 41369290-41374164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41373701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 188 (L188P)
Ref Sequence ENSEMBL: ENSMUSP00000039684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049079]
AlphaFold Q792Y9
Predicted Effect probably benign
Transcript: ENSMUST00000049079
AA Change: L188P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039684
Gene: ENSMUSG00000058119
AA Change: L188P

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Tryp_SPc 22 238 9.72e-105 SMART
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (86/89)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,886,756 (GRCm39) N343D probably damaging Het
9530002B09Rik T A 4: 122,594,979 (GRCm39) D78E possibly damaging Het
A2m C A 6: 121,634,365 (GRCm39) D632E probably benign Het
Alpk2 A G 18: 65,440,035 (GRCm39) S453P probably damaging Het
Birc2 A T 9: 7,833,675 (GRCm39) F269I probably damaging Het
Ccdc66 G A 14: 27,222,468 (GRCm39) P92S probably benign Het
Cdc34 T A 10: 79,523,869 (GRCm39) D108E possibly damaging Het
Cdk5rap2 A C 4: 70,184,997 (GRCm39) V1151G probably damaging Het
Cemip T C 7: 83,607,747 (GRCm39) K753R probably damaging Het
Cep295 A T 9: 15,246,095 (GRCm39) L787Q possibly damaging Het
Cideb T C 14: 55,995,727 (GRCm39) N8S probably benign Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapl1 C A 2: 59,335,086 (GRCm39) T80K possibly damaging Het
Ddx6 T C 9: 44,535,784 (GRCm39) V171A probably damaging Het
Dnah12 C A 14: 26,494,551 (GRCm39) T34K probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Ep400 T A 5: 110,881,763 (GRCm39) probably benign Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2-T15 A T 17: 36,368,559 (GRCm39) M123K probably damaging Het
Ighv1-66 T A 12: 115,557,016 (GRCm39) Q22L possibly damaging Het
Igkv4-80 T C 6: 68,993,720 (GRCm39) Y57C probably damaging Het
Itpk1 G A 12: 102,536,416 (GRCm39) A410V possibly damaging Het
Itsn1 T A 16: 91,617,471 (GRCm39) probably benign Het
Kcnk3 G T 5: 30,745,730 (GRCm39) A24S probably damaging Het
Kif20a A G 18: 34,765,664 (GRCm39) Y887C probably damaging Het
Klf13 T C 7: 63,587,718 (GRCm39) T193A possibly damaging Het
Klhl9 G T 4: 88,640,144 (GRCm39) H32Q probably damaging Het
Kndc1 C G 7: 139,481,159 (GRCm39) P82A probably damaging Het
Llgl1 T A 11: 60,602,908 (GRCm39) L861Q probably damaging Het
Lpcat2 A G 8: 93,615,999 (GRCm39) E305G probably damaging Het
Mib2 C A 4: 155,741,744 (GRCm39) A293S probably damaging Het
Mtfr1 A G 3: 19,269,766 (GRCm39) E138G probably damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ninj1 T A 13: 49,347,442 (GRCm39) probably null Het
Nlgn2 A T 11: 69,725,104 (GRCm39) V54E possibly damaging Het
Nlrc5 A C 8: 95,203,903 (GRCm39) I668L probably damaging Het
Npy6r T A 18: 44,409,262 (GRCm39) C228S probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Nup107 T C 10: 117,602,273 (GRCm39) I513M probably benign Het
Oit3 T C 10: 59,261,284 (GRCm39) D461G probably damaging Het
Or2ab1 T A 11: 58,488,830 (GRCm39) F205I probably benign Het
Paxbp1 T C 16: 90,831,011 (GRCm39) D455G probably damaging Het
Pcdh7 A T 5: 57,878,625 (GRCm39) T727S probably damaging Het
Pex14 G A 4: 149,055,053 (GRCm39) A113V probably damaging Het
Phc3 A G 3: 31,020,031 (GRCm39) V23A possibly damaging Het
Plec T C 15: 76,115,406 (GRCm39) D56G possibly damaging Het
Plekha7 C A 7: 115,836,768 (GRCm39) probably benign Het
Prdm16 T C 4: 154,422,140 (GRCm39) E885G probably damaging Het
Psd2 A G 18: 36,145,881 (GRCm39) T762A probably benign Het
Psme4 T A 11: 30,784,318 (GRCm39) H964Q probably damaging Het
Rbak C T 5: 143,161,878 (GRCm39) V51I probably benign Het
Rbfa A G 18: 80,243,721 (GRCm39) L15P probably benign Het
Ren1 T C 1: 133,282,546 (GRCm39) Y84H probably damaging Het
Rps6ka5 A T 12: 100,547,577 (GRCm39) I311N probably damaging Het
Samd14 T A 11: 94,912,361 (GRCm39) probably null Het
Scaf4 T C 16: 90,026,403 (GRCm39) probably benign Het
Serpina12 A T 12: 104,004,611 (GRCm39) L7Q unknown Het
Serpinb9d A T 13: 33,384,599 (GRCm39) E192V probably damaging Het
Slc22a29 A T 19: 8,146,655 (GRCm39) F382L probably benign Het
Snta1 T A 2: 154,220,035 (GRCm39) D375V probably benign Het
Stat5b T A 11: 100,678,064 (GRCm39) Y683F probably damaging Het
Strip1 A T 3: 107,531,819 (GRCm39) Y257N probably benign Het
Sugp2 A G 8: 70,704,548 (GRCm39) H695R probably benign Het
Svep1 T A 4: 58,068,526 (GRCm39) R3087* probably null Het
Syngr2 T C 11: 117,703,947 (GRCm39) V138A probably damaging Het
Thra T C 11: 98,655,310 (GRCm39) F397L probably benign Het
Tmem45b T A 9: 31,339,951 (GRCm39) I149F probably damaging Het
Tmprss11f C T 5: 86,687,553 (GRCm39) probably null Het
Ush2a C T 1: 188,183,995 (GRCm39) T1433I probably benign Het
Vmn2r109 A T 17: 20,774,820 (GRCm39) Y178* probably null Het
Vmn2r84 T G 10: 130,226,582 (GRCm39) M419L probably benign Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp268 T A 4: 145,343,747 (GRCm39) probably null Het
Zfp276 A G 8: 123,995,145 (GRCm39) probably benign Het
Zfp568 T G 7: 29,697,617 (GRCm39) F100V probably benign Het
Zfp667 T A 7: 6,293,624 (GRCm39) D41E possibly damaging Het
Other mutations in Prss1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Prss1l APN 6 41,371,707 (GRCm39) missense probably damaging 1.00
IGL00586:Prss1l APN 6 41,373,049 (GRCm39) missense probably damaging 1.00
IGL01103:Prss1l APN 6 41,374,091 (GRCm39) missense probably damaging 1.00
IGL01368:Prss1l APN 6 41,373,620 (GRCm39) missense possibly damaging 0.94
IGL01458:Prss1l APN 6 41,373,621 (GRCm39) missense probably benign 0.01
IGL03114:Prss1l APN 6 41,374,012 (GRCm39) missense probably damaging 1.00
R0167:Prss1l UTSW 6 41,373,195 (GRCm39) splice site probably benign
R1548:Prss1l UTSW 6 41,372,945 (GRCm39) missense probably damaging 1.00
R5622:Prss1l UTSW 6 41,373,084 (GRCm39) missense probably damaging 1.00
R5664:Prss1l UTSW 6 41,371,605 (GRCm39) missense probably benign 0.04
R6222:Prss1l UTSW 6 41,374,100 (GRCm39) missense probably damaging 0.98
R6325:Prss1l UTSW 6 41,373,590 (GRCm39) missense probably benign 0.00
R7816:Prss1l UTSW 6 41,371,707 (GRCm39) missense probably damaging 1.00
R7986:Prss1l UTSW 6 41,373,058 (GRCm39) missense probably damaging 1.00
R8016:Prss1l UTSW 6 41,374,100 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAACAGTCCATTGCTTGCCAG -3'
(R):5'- AGGGCTGCATATAGTAAGCTC -3'

Sequencing Primer
(F):5'- CTTGCCAGCTGGTTCGATGC -3'
(R):5'- GGGCTGCATATAGTAAGCTCAATACC -3'
Posted On 2015-09-24