Incidental Mutation 'R8899:Prss53'
ID 679836
Institutional Source Beutler Lab
Gene Symbol Prss53
Ensembl Gene ENSMUSG00000044139
Gene Name serine protease 53
Synonyms BC039632
MMRRC Submission 068756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8899 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127485013-127490142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127488193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 141 (T141A)
Ref Sequence ENSEMBL: ENSMUSP00000112972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033074] [ENSMUST00000050383] [ENSMUST00000119922] [ENSMUST00000121394] [ENSMUST00000205300] [ENSMUST00000206053]
AlphaFold Q571E5
Predicted Effect probably benign
Transcript: ENSMUST00000033074
SMART Domains Protein: ENSMUSP00000033074
Gene: ENSMUSG00000096145

DomainStartEndE-ValueType
VKc 5 153 1.29e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050383
SMART Domains Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739

DomainStartEndE-ValueType
ZnF_C2H2 8 31 1.36e-2 SMART
ZnF_C2H2 67 89 5.29e-5 SMART
ZnF_C2H2 231 253 3.21e-4 SMART
ZnF_C2H2 258 280 9.58e-3 SMART
ZnF_C2H2 286 308 2.24e-3 SMART
low complexity region 345 362 N/A INTRINSIC
ZnF_C2H2 366 388 5.42e-2 SMART
ZnF_C2H2 393 415 8.34e-3 SMART
ZnF_C2H2 457 479 5.9e-3 SMART
ZnF_C2H2 484 506 4.87e-4 SMART
ZnF_C2H2 566 588 2.32e-1 SMART
ZnF_C2H2 606 628 6.32e-3 SMART
ZnF_C2H2 633 655 1.53e-1 SMART
low complexity region 737 750 N/A INTRINSIC
low complexity region 786 797 N/A INTRINSIC
ZnF_C2H2 806 828 2.17e-1 SMART
ZnF_C2H2 833 855 3.69e-4 SMART
ZnF_C2H2 866 889 1.16e-1 SMART
low complexity region 890 911 N/A INTRINSIC
ZnF_C2H2 941 961 9.31e1 SMART
ZnF_C2H2 1035 1057 1.95e-3 SMART
ZnF_C2H2 1062 1084 3.39e-3 SMART
low complexity region 1149 1163 N/A INTRINSIC
ZnF_C2H2 1170 1192 1.58e-3 SMART
ZnF_C2H2 1197 1219 5.42e-2 SMART
ZnF_C2H2 1225 1247 3.69e-4 SMART
ZnF_C2H2 1266 1286 5.12e1 SMART
ZnF_C2H2 1293 1315 3.69e-4 SMART
ZnF_C2H2 1333 1355 3.11e-2 SMART
ZnF_C2H2 1550 1572 5.9e-3 SMART
ZnF_C2H2 1640 1662 1.08e-1 SMART
ZnF_C2H2 1667 1689 4.11e-2 SMART
ZnF_C2H2 1695 1717 4.11e-2 SMART
ZnF_C2H2 1724 1746 1.45e-2 SMART
low complexity region 1751 1764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119922
SMART Domains Protein: ENSMUSP00000112542
Gene: ENSMUSG00000096145

DomainStartEndE-ValueType
Pfam:VKOR 3 85 1.5e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121394
AA Change: T141A

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: T141A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 38 268 3.91e-45 SMART
Tryp_SPc 300 520 9.95e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126662
SMART Domains Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

DomainStartEndE-ValueType
VKc 1 111 8.84e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000205300
AA Change: T141A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000206053
Predicted Effect probably benign
Transcript: ENSMUST00000206340
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 A T 15: 10,378,900 (GRCm39) N167I probably damaging Het
Arel1 A G 12: 84,981,017 (GRCm39) I330T probably benign Het
Ate1 T C 7: 129,996,389 (GRCm39) K484E possibly damaging Het
Atl2 T C 17: 80,183,469 (GRCm39) D42G probably benign Het
Bltp1 T C 3: 37,042,429 (GRCm39) I2805T probably damaging Het
Cd209e C T 8: 3,901,212 (GRCm39) W147* probably null Het
Cdc40 G A 10: 40,717,809 (GRCm39) Q365* probably null Het
Cenpe A G 3: 134,945,644 (GRCm39) T1053A probably benign Het
Colgalt1 T C 8: 72,076,306 (GRCm39) S586P probably damaging Het
Crem A G 18: 3,295,370 (GRCm39) I91T probably damaging Het
Csrnp3 G A 2: 65,852,987 (GRCm39) V460I possibly damaging Het
Cul1 T A 6: 47,474,246 (GRCm39) I136N possibly damaging Het
Ddx19b A T 8: 111,737,929 (GRCm39) I273N probably damaging Het
Fap A G 2: 62,348,817 (GRCm39) I505T probably damaging Het
Fbxo44 A T 4: 148,238,078 (GRCm39) Y216* probably null Het
Fbxw10 T A 11: 62,748,567 (GRCm39) M398K probably damaging Het
Fut10 T C 8: 31,726,514 (GRCm39) V423A possibly damaging Het
Fyco1 A C 9: 123,655,646 (GRCm39) D1037E probably benign Het
Gabrg2 G A 11: 41,867,377 (GRCm39) R81* probably null Het
Gcn1 T C 5: 115,717,220 (GRCm39) V204A probably benign Het
Gnl1 T C 17: 36,299,608 (GRCm39) L593P probably damaging Het
Grm4 T C 17: 27,653,754 (GRCm39) Q732R probably damaging Het
Icam5 T C 9: 20,948,415 (GRCm39) V741A possibly damaging Het
Iqub C T 6: 24,505,768 (GRCm39) E47K probably benign Het
Kcnk3 A G 5: 30,779,580 (GRCm39) K210R probably benign Het
Kdm2b T A 5: 123,125,851 (GRCm39) R12* probably null Het
Kifbp T C 10: 62,399,282 (GRCm39) probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lgi1 C T 19: 38,294,538 (GRCm39) H413Y probably damaging Het
Lhx8 A G 3: 154,033,653 (GRCm39) Y51H probably damaging Het
Lim2 T C 7: 43,083,055 (GRCm39) I80T probably benign Het
Macf1 A G 4: 123,368,852 (GRCm39) F405L probably benign Het
Mefv G A 16: 3,528,764 (GRCm39) T559I probably damaging Het
Nin A G 12: 70,077,710 (GRCm39) W1739R probably damaging Het
Or10h1 A T 17: 33,418,718 (GRCm39) K232M probably damaging Het
Or11j4 T C 14: 50,630,269 (GRCm39) F19L probably damaging Het
Or5t16 A G 2: 86,818,710 (GRCm39) I270T probably benign Het
Or8b3b C T 9: 38,584,147 (GRCm39) V198I probably damaging Het
Otop3 T C 11: 115,231,886 (GRCm39) probably null Het
Pate9 A T 9: 36,446,254 (GRCm39) C53S probably damaging Het
Pip5kl1 A G 2: 32,469,082 (GRCm39) I247V probably benign Het
Polr2d T A 18: 31,922,226 (GRCm39) M1K probably null Het
Rdh12 A G 12: 79,268,802 (GRCm39) N293S probably benign Het
Rnf146 G A 10: 29,223,754 (GRCm39) T44I probably benign Het
Rsbn1l A T 5: 21,101,865 (GRCm39) C588S probably damaging Het
Septin8 G A 11: 53,426,862 (GRCm39) V208I probably damaging Het
Sgo2a T G 1: 58,058,822 (GRCm39) S1134A possibly damaging Het
Sh3bp4 C T 1: 89,073,297 (GRCm39) T715I probably benign Het
Snrnp200 A G 2: 127,078,517 (GRCm39) T1758A probably damaging Het
Snx6 A T 12: 54,812,423 (GRCm39) D70E probably benign Het
Spag9 T C 11: 93,983,695 (GRCm39) S341P probably damaging Het
Sparcl1 T C 5: 104,240,590 (GRCm39) D278G probably benign Het
Spmap2l T A 5: 77,185,200 (GRCm39) probably null Het
Srbd1 T A 17: 86,292,885 (GRCm39) S895C Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tas2r136 T C 6: 132,754,323 (GRCm39) D268G probably benign Het
Tas2r143 T A 6: 42,377,888 (GRCm39) Y239* probably null Het
Tbc1d17 C T 7: 44,492,328 (GRCm39) G419D probably damaging Het
Tff2 C T 17: 31,362,113 (GRCm39) W68* probably null Het
Thop1 T C 10: 80,916,440 (GRCm39) C483R probably damaging Het
Tmem245 A C 4: 56,903,916 (GRCm39) probably null Het
Tmem67 A G 4: 12,055,038 (GRCm39) F655S probably damaging Het
Trim36 T G 18: 46,302,264 (GRCm39) S583R possibly damaging Het
Ucp1 T C 8: 84,017,216 (GRCm39) V2A probably benign Het
Ugt1a6a T A 1: 88,066,803 (GRCm39) M203K probably damaging Het
Usp1 A G 4: 98,819,347 (GRCm39) K270E probably damaging Het
Vps13c T C 9: 67,841,783 (GRCm39) F1935S probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp799 G T 17: 33,039,348 (GRCm39) P306Q probably damaging Het
Zfp831 A T 2: 174,485,978 (GRCm39) R218W probably damaging Het
Other mutations in Prss53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Prss53 APN 7 127,485,724 (GRCm39) missense probably benign
IGL02244:Prss53 APN 7 127,487,964 (GRCm39) missense possibly damaging 0.73
IGL02310:Prss53 APN 7 127,485,786 (GRCm39) missense probably benign 0.37
PIT4515001:Prss53 UTSW 7 127,487,963 (GRCm39) missense probably benign 0.01
R1933:Prss53 UTSW 7 127,485,434 (GRCm39) makesense probably null
R1934:Prss53 UTSW 7 127,485,920 (GRCm39) splice site probably null
R1994:Prss53 UTSW 7 127,486,565 (GRCm39) missense probably benign 0.03
R2304:Prss53 UTSW 7 127,487,479 (GRCm39) missense probably benign
R2307:Prss53 UTSW 7 127,490,037 (GRCm39) missense probably benign
R4934:Prss53 UTSW 7 127,487,879 (GRCm39) missense probably benign
R6649:Prss53 UTSW 7 127,485,747 (GRCm39) missense probably benign 0.37
R7854:Prss53 UTSW 7 127,488,117 (GRCm39) missense probably benign 0.27
R9182:Prss53 UTSW 7 127,487,554 (GRCm39) missense probably benign 0.01
R9314:Prss53 UTSW 7 127,490,039 (GRCm39) missense probably benign
R9492:Prss53 UTSW 7 127,488,802 (GRCm39) missense probably damaging 0.99
R9657:Prss53 UTSW 7 127,486,238 (GRCm39) missense probably damaging 1.00
Z1088:Prss53 UTSW 7 127,486,570 (GRCm39) nonsense probably null
Z1177:Prss53 UTSW 7 127,488,721 (GRCm39) missense probably damaging 1.00
Z1177:Prss53 UTSW 7 127,488,246 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTAGGGTTCTGGAAACTGG -3'
(R):5'- TCCTTTCAGGATGGCCACAG -3'

Sequencing Primer
(F):5'- TTGAGTCTAGCCCTGGAACAATG -3'
(R):5'- AGCAGAACTGAGCTCCTGGTC -3'
Posted On 2021-08-31