Incidental Mutation 'R2216:Prss52'
ID241176
Institutional Source Beutler Lab
Gene Symbol Prss52
Ensembl Gene ENSMUSG00000021966
Gene Nameprotease, serine 52
Synonyms1700049K14Rik
MMRRC Submission 040218-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2216 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location64104286-64113755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64113593 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 276 (S276P)
Ref Sequence ENSEMBL: ENSMUSP00000022537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022537]
Predicted Effect probably damaging
Transcript: ENSMUST00000022537
AA Change: S276P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022537
Gene: ENSMUSG00000021966
AA Change: S276P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Tryp_SPc 55 282 1.13e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225122
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 72,031,446 P146T probably damaging Het
Arnt2 T A 7: 84,275,351 T423S probably damaging Het
Bend5 A G 4: 111,448,590 N277S probably null Het
Cd22 G T 7: 30,867,046 T816N probably damaging Het
Cep126 G A 9: 8,120,678 R115C probably damaging Het
Cep85 T C 4: 134,131,430 H710R possibly damaging Het
Cmya5 A T 13: 93,093,495 L1695H probably damaging Het
Col24a1 T C 3: 145,314,981 V371A probably benign Het
Csmd1 T A 8: 17,027,339 probably null Het
Cyp1a1 T A 9: 57,702,069 probably null Het
Dennd1c C T 17: 57,074,492 probably null Het
Dmxl1 G A 18: 49,893,923 V2033I probably benign Het
Dtna A G 18: 23,569,565 H51R probably damaging Het
Dysf G A 6: 84,207,245 probably null Het
Gcn1l1 T A 5: 115,593,661 V945E probably benign Het
Gm12800 T A 4: 101,910,060 W169R probably damaging Het
Gpbar1 C G 1: 74,278,894 L99V probably damaging Het
Hdac9 A T 12: 34,429,517 D212E probably damaging Het
Itga1 A T 13: 114,997,029 D448E probably benign Het
Itga2b T A 11: 102,467,866 N75I probably benign Het
Klra7 T C 6: 130,228,586 E117G probably benign Het
Kmt2b G A 7: 30,574,065 R2349C probably benign Het
Masp1 T C 16: 23,492,055 N209S probably benign Het
Mybpc2 C T 7: 44,512,500 probably null Het
Myh15 C G 16: 49,165,838 S1557* probably null Het
Myo3a A C 2: 22,577,771 T346P probably benign Het
Nim1k A G 13: 119,714,215 Y152H probably damaging Het
Nrp2 C T 1: 62,762,918 R507* probably null Het
Olfr513 C T 7: 108,755,612 T252M probably damaging Het
Olfr702 T A 7: 106,823,998 H176L probably damaging Het
Parp14 T C 16: 35,857,205 I798V probably benign Het
Pcnx2 C T 8: 125,888,077 A212T probably benign Het
Pkhd1l1 A T 15: 44,573,895 H3522L probably damaging Het
Pram1 C T 17: 33,641,284 A275V probably benign Het
Prkag1 A T 15: 98,815,946 M1K probably null Het
Ranbp17 A T 11: 33,481,125 V284D probably damaging Het
Reln T C 5: 22,048,005 D648G probably benign Het
Rnf112 A G 11: 61,452,279 L190P probably damaging Het
Scn5a G T 9: 119,485,612 P2010Q probably benign Het
Scn5a T C 9: 119,513,085 Y1138C probably benign Het
Slc4a9 A G 18: 36,530,745 H274R probably benign Het
Slc5a6 T G 5: 31,039,335 E391D possibly damaging Het
Speer2 T C 16: 69,858,842 Q32R possibly damaging Het
Tars A G 15: 11,389,708 V372A probably benign Het
Thsd7a A T 6: 12,337,268 L1250Q possibly damaging Het
Tnnt3 A G 7: 142,512,564 Y222C probably benign Het
Trim40 T C 17: 36,888,983 I68V probably benign Het
Trp53tg5 T C 2: 164,471,306 I150V probably benign Het
Ube2u T C 4: 100,532,168 V109A probably benign Het
Usp54 A T 14: 20,561,840 D969E probably benign Het
Vil1 G T 1: 74,425,679 R495L probably benign Het
Wfs1 T A 5: 36,967,220 K700* probably null Het
Zcchc8 A G 5: 123,707,403 L298P probably damaging Het
Zfp946 A T 17: 22,454,716 Q150H possibly damaging Het
Other mutations in Prss52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02898:Prss52 APN 14 64113666 missense possibly damaging 0.84
R0021:Prss52 UTSW 14 64104408 missense probably benign
R0271:Prss52 UTSW 14 64113678 missense probably benign 0.23
R0480:Prss52 UTSW 14 64113644 missense probably damaging 0.99
R1770:Prss52 UTSW 14 64113633 missense probably damaging 0.96
R3157:Prss52 UTSW 14 64113543 missense probably damaging 1.00
R3158:Prss52 UTSW 14 64113543 missense probably damaging 1.00
R5613:Prss52 UTSW 14 64109502 missense possibly damaging 0.76
R7049:Prss52 UTSW 14 64112572 missense probably damaging 1.00
R7529:Prss52 UTSW 14 64109588 missense probably benign 0.02
R8425:Prss52 UTSW 14 64112560 nonsense probably null
RF012:Prss52 UTSW 14 64113473 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGATTATGGGAGCAGTTTCC -3'
(R):5'- CAAACCTCGAAGCTCAGTCG -3'

Sequencing Primer
(F):5'- GGAGCAGTTTCCCTATTGCC -3'
(R):5'- GTTTCATACACTGAGAAGGGCACTTG -3'
Posted On2014-10-15