Incidental Mutation 'R0294:Prss40'
ID 26258
Institutional Source Beutler Lab
Gene Symbol Prss40
Ensembl Gene ENSMUSG00000037529
Gene Name serine protease 40
Synonyms Tesp2
MMRRC Submission 038511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0294 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 34583049-34600024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34595162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 224 (D224A)
Ref Sequence ENSEMBL: ENSMUSP00000045118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047840] [ENSMUST00000115071] [ENSMUST00000190790]
AlphaFold A6H6T1
Predicted Effect possibly damaging
Transcript: ENSMUST00000047840
AA Change: D224A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: D224A

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
Tryp_SPc 68 308 1.45e-71 SMART
low complexity region 309 319 N/A INTRINSIC
low complexity region 354 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115071
SMART Domains Protein: ENSMUSP00000110723
Gene: ENSMUSG00000037529

DomainStartEndE-ValueType
Tryp_SPc 1 146 8.36e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190790
AA Change: D106A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140885
Gene: ENSMUSG00000037529
AA Change: D106A

DomainStartEndE-ValueType
Tryp_SPc 4 145 2.3e-7 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Aadat A G 8: 60,987,642 (GRCm39) E319G possibly damaging Het
Abca13 A G 11: 9,219,122 (GRCm39) probably null Het
Actl7b A T 4: 56,740,848 (GRCm39) L170Q possibly damaging Het
Adam29 C A 8: 56,326,311 (GRCm39) V48L probably benign Het
Aknad1 A G 3: 108,682,508 (GRCm39) Y528C probably damaging Het
Alas1 T A 9: 106,118,455 (GRCm39) K222N probably damaging Het
Aplf A G 6: 87,623,227 (GRCm39) V284A probably benign Het
Atp11a G A 8: 12,877,524 (GRCm39) V317M probably benign Het
Bub3 A G 7: 131,169,953 (GRCm39) E206G possibly damaging Het
Cblb T G 16: 51,956,187 (GRCm39) F263L probably damaging Het
Ces2h T A 8: 105,743,236 (GRCm39) M157K probably benign Het
Cfh A G 1: 140,110,999 (GRCm39) F6L probably benign Het
Chst1 G T 2: 92,443,987 (GRCm39) R153L probably damaging Het
Cimap2 T C 4: 106,470,361 (GRCm39) D232G probably damaging Het
Cntnap5a T A 1: 115,843,046 (GRCm39) N121K probably benign Het
Crybg1 A T 10: 43,862,372 (GRCm39) S1467R probably damaging Het
Cyp2d22 A G 15: 82,258,646 (GRCm39) F72L possibly damaging Het
Dmrt2 C T 19: 25,655,435 (GRCm39) P345S probably damaging Het
Dock8 T C 19: 25,165,714 (GRCm39) I1866T probably damaging Het
Egfem1 A G 3: 29,744,270 (GRCm39) N503S probably damaging Het
Ehbp1 T C 11: 22,045,427 (GRCm39) D774G probably benign Het
Foxp2 C A 6: 15,376,773 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,547 (GRCm39) V99A possibly damaging Het
Grm1 A T 10: 10,956,143 (GRCm39) I47N probably damaging Het
H2aj C G 6: 136,785,602 (GRCm39) R89G probably damaging Het
Hsdl2 T A 4: 59,601,408 (GRCm39) S127T probably benign Het
Il5ra A T 6: 106,689,362 (GRCm39) M410K probably benign Het
Ints7 A G 1: 191,344,003 (GRCm39) S548G possibly damaging Het
Kcnt1 A G 2: 25,778,122 (GRCm39) E80G probably damaging Het
Lgr6 A G 1: 134,915,629 (GRCm39) V373A probably damaging Het
Lgr6 T A 1: 135,032,799 (GRCm39) Q27L unknown Het
Map3k14 T C 11: 103,117,963 (GRCm39) I610V possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Metap1d T A 2: 71,352,889 (GRCm39) H239Q probably benign Het
Mgst2 A G 3: 51,589,251 (GRCm39) Y88C probably damaging Het
Mroh4 T C 15: 74,477,998 (GRCm39) N903D probably benign Het
Nbeal2 T G 9: 110,461,927 (GRCm39) D1476A probably damaging Het
Nlgn1 C A 3: 26,187,625 (GRCm39) A87S probably benign Het
Nln C T 13: 104,189,087 (GRCm39) G295S probably damaging Het
Nnt T A 13: 119,472,803 (GRCm39) Y719F probably benign Het
Nnt T G 13: 119,474,953 (GRCm39) I659L possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51b17 A T 7: 103,542,137 (GRCm39) H268Q probably benign Het
Or52s6 G A 7: 103,092,291 (GRCm39) T13I possibly damaging Het
Or5p78 A T 7: 108,212,357 (GRCm39) Y281F probably damaging Het
Or9g4 A G 2: 85,505,060 (GRCm39) V145A probably damaging Het
Otogl C T 10: 107,613,089 (GRCm39) C2041Y probably damaging Het
Patj G T 4: 98,385,285 (GRCm39) D300Y probably damaging Het
Pkhd1l1 A T 15: 44,423,831 (GRCm39) E3124D probably benign Het
Plbd2 A G 5: 120,625,514 (GRCm39) probably null Het
Pphln1 T C 15: 93,318,171 (GRCm39) Y57H probably damaging Het
Ppp1r16b C T 2: 158,588,523 (GRCm39) T78M probably damaging Het
Senp6 A G 9: 80,021,007 (GRCm39) probably null Het
Shank3 A G 15: 89,416,301 (GRCm39) E666G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a18 G A 7: 143,046,578 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,161 (GRCm39) C292R probably damaging Het
Spata31e5 T C 1: 28,817,744 (GRCm39) Q96R probably benign Het
Sphkap T A 1: 83,255,966 (GRCm39) E594D possibly damaging Het
Srpra T A 9: 35,126,811 (GRCm39) M61K probably damaging Het
Trmt10c A T 16: 55,855,240 (GRCm39) Y132N possibly damaging Het
Other mutations in Prss40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Prss40 APN 1 34,591,620 (GRCm39) missense probably benign 0.01
IGL01298:Prss40 APN 1 34,599,847 (GRCm39) missense probably benign
IGL01694:Prss40 APN 1 34,595,178 (GRCm39) missense probably benign 0.02
IGL03030:Prss40 APN 1 34,597,182 (GRCm39) missense probably damaging 0.99
IGL03393:Prss40 APN 1 34,597,182 (GRCm39) missense probably damaging 0.99
R1450:Prss40 UTSW 1 34,595,178 (GRCm39) missense probably benign 0.02
R1987:Prss40 UTSW 1 34,597,095 (GRCm39) missense possibly damaging 0.75
R2356:Prss40 UTSW 1 34,598,984 (GRCm39) nonsense probably null
R2395:Prss40 UTSW 1 34,598,986 (GRCm39) missense possibly damaging 0.86
R4042:Prss40 UTSW 1 34,599,960 (GRCm39) nonsense probably null
R4043:Prss40 UTSW 1 34,599,960 (GRCm39) nonsense probably null
R4044:Prss40 UTSW 1 34,599,960 (GRCm39) nonsense probably null
R4232:Prss40 UTSW 1 34,599,873 (GRCm39) missense probably benign 0.07
R5418:Prss40 UTSW 1 34,599,840 (GRCm39) missense probably benign 0.00
R5539:Prss40 UTSW 1 34,591,760 (GRCm39) makesense probably null
R5719:Prss40 UTSW 1 34,591,598 (GRCm39) utr 3 prime probably benign
R6365:Prss40 UTSW 1 34,591,598 (GRCm39) utr 3 prime probably benign
R7002:Prss40 UTSW 1 34,591,481 (GRCm39) splice site probably null
R7366:Prss40 UTSW 1 34,598,952 (GRCm39) nonsense probably null
R7521:Prss40 UTSW 1 34,597,090 (GRCm39) missense probably benign 0.03
R7777:Prss40 UTSW 1 34,591,846 (GRCm39) nonsense probably null
R8138:Prss40 UTSW 1 34,597,080 (GRCm39) missense probably damaging 0.99
R8360:Prss40 UTSW 1 34,599,876 (GRCm39) missense probably benign 0.00
R8542:Prss40 UTSW 1 34,596,967 (GRCm39) missense probably damaging 1.00
R8904:Prss40 UTSW 1 34,595,045 (GRCm39) splice site probably benign
R9399:Prss40 UTSW 1 34,591,794 (GRCm39) missense probably damaging 1.00
R9532:Prss40 UTSW 1 34,597,106 (GRCm39) missense probably damaging 1.00
Z1176:Prss40 UTSW 1 34,598,860 (GRCm39) missense possibly damaging 0.85
Z1177:Prss40 UTSW 1 34,599,900 (GRCm39) nonsense probably null
Z1177:Prss40 UTSW 1 34,591,667 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCCTCAGGCATATAAGGGATGGC -3'
(R):5'- GTGGTTGCACCTAGTGTTCCTCAG -3'

Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
(R):5'- ACAGAGCCTCATGCTTGC -3'
Posted On 2013-04-16