Incidental Mutation 'R0576:Prss45'
ID56236
Institutional Source Beutler Lab
Gene Symbol Prss45
Ensembl Gene ENSMUSG00000047257
Gene Nameprotease, serine 45
Synonyms
MMRRC Submission 038766-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R0576 (G1)
Quality Score164
Status Validated
Chromosome9
Chromosomal Location110834588-110841313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110838429 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 39 (T39A)
Ref Sequence ENSEMBL: ENSMUSP00000120471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011391] [ENSMUST00000146794]
AlphaFold Q8K4I7
Predicted Effect probably benign
Transcript: ENSMUST00000011391
AA Change: T48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000011391
Gene: ENSMUSG00000047257
AA Change: T48A

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Tryp_SPc 44 286 6.39e-50 SMART
low complexity region 302 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146794
AA Change: T39A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120471
Gene: ENSMUSG00000047257
AA Change: T39A

DomainStartEndE-ValueType
Tryp_SPc 35 277 3.19e-50 SMART
low complexity region 293 308 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A T 2: 130,713,470 F839L probably benign Het
Ccdc77 T A 6: 120,331,848 L335F probably benign Het
Ccr3 T A 9: 124,029,009 F127Y probably damaging Het
Cfap43 T C 19: 47,797,140 N437S probably benign Het
Cfh A G 1: 140,136,815 V365A probably damaging Het
Copg1 T A 6: 87,897,963 V380D probably damaging Het
Cxxc1 T C 18: 74,220,185 I497T possibly damaging Het
Disp3 G A 4: 148,241,590 T1237I possibly damaging Het
Dnah7a A T 1: 53,636,087 F360L probably benign Het
Dnhd1 C T 7: 105,714,045 A3938V probably damaging Het
Eif4g1 A G 16: 20,684,068 D1000G probably damaging Het
Emsy A T 7: 98,593,776 V1052D probably damaging Het
Ep400 A G 5: 110,711,093 probably benign Het
Fa2h T C 8: 111,356,147 H146R probably damaging Het
Gad1 G A 2: 70,594,652 C430Y probably benign Het
Gm38394 A G 1: 133,657,838 F587S probably benign Het
Gtse1 T C 15: 85,869,051 S456P probably damaging Het
Gucy2g T C 19: 55,198,770 T1073A probably damaging Het
Hectd2 T G 19: 36,585,497 N3K probably benign Het
Hmcn1 A T 1: 150,650,017 C3318* probably null Het
Lipo2 C T 19: 33,749,424 S71N probably benign Het
Mynn G T 3: 30,607,068 D100Y probably damaging Het
Myo16 G A 8: 10,562,318 probably null Het
Npr2 G T 4: 43,640,947 K384N probably benign Het
Nrde2 A G 12: 100,132,233 V725A possibly damaging Het
Olfr166 A G 16: 19,487,188 M117V probably damaging Het
Olfr748 T A 14: 50,711,204 S291R probably damaging Het
Otud7a C T 7: 63,685,518 P101S possibly damaging Het
Pcdhb7 T A 18: 37,342,357 L182Q probably benign Het
Pdss1 A G 2: 22,915,413 probably null Het
Ppargc1b T A 18: 61,311,441 H233L probably damaging Het
Ppm1b A G 17: 85,013,559 probably null Het
Prdm14 A T 1: 13,125,725 S37R possibly damaging Het
Qars T C 9: 108,514,962 probably benign Het
Rxfp2 T G 5: 150,038,247 H77Q probably benign Het
Scd4 A G 19: 44,341,246 M219V probably benign Het
Sec24b G T 3: 130,041,336 P71Q probably benign Het
Snd1 T G 6: 28,886,577 V861G probably benign Het
Sspo A G 6: 48,464,942 probably null Het
Tas2r129 A G 6: 132,951,534 T145A probably benign Het
Tbc1d31 T A 15: 57,969,724 I953N possibly damaging Het
Tlr4 A G 4: 66,839,495 N175S probably benign Het
Tspyl4 A G 10: 34,298,522 N337D probably damaging Het
Ttn A T 2: 76,812,201 L13330H probably damaging Het
Usp33 T A 3: 152,384,119 Y765* probably null Het
Vmn2r59 T A 7: 42,047,105 Y71F probably benign Het
Zfhx4 T C 3: 5,402,101 S2465P probably damaging Het
Other mutations in Prss45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Prss45 APN 9 110841005 missense probably damaging 1.00
IGL00561:Prss45 APN 9 110840510 missense probably damaging 1.00
IGL03392:Prss45 APN 9 110840550 nonsense probably null
BB002:Prss45 UTSW 9 110841035 missense unknown
BB012:Prss45 UTSW 9 110841035 missense unknown
PIT4260001:Prss45 UTSW 9 110838445 missense probably benign 0.00
R0025:Prss45 UTSW 9 110840894 missense probably damaging 0.99
R1464:Prss45 UTSW 9 110840951 missense possibly damaging 0.56
R1464:Prss45 UTSW 9 110840951 missense possibly damaging 0.56
R1572:Prss45 UTSW 9 110838429 missense probably benign 0.00
R2420:Prss45 UTSW 9 110839092 missense possibly damaging 0.48
R4289:Prss45 UTSW 9 110840929 missense probably benign 0.01
R5049:Prss45 UTSW 9 110840470 missense probably damaging 0.98
R6761:Prss45 UTSW 9 110840419 missense probably damaging 1.00
R7379:Prss45 UTSW 9 110839193 missense possibly damaging 0.89
R7925:Prss45 UTSW 9 110841035 missense unknown
Z1177:Prss45 UTSW 9 110839046 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATCTCAGTCTCCGGCTGAAAG -3'
(R):5'- TATTGCTCAGGGTCCCATCCCAAC -3'

Sequencing Primer
(F):5'- TCTCCGGCTGAAAGGTCTC -3'
(R):5'- GGTCCCATCCCAACTTAGTCAG -3'
Posted On2013-07-11