Incidental Mutation 'R3884:Prss44'
ID 310595
Institutional Source Beutler Lab
Gene Symbol Prss44
Ensembl Gene ENSMUSG00000032493
Gene Name serine protease 44
Synonyms 1700036D21Rik, TESSP4
MMRRC Submission 040797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R3884 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110642987-110647067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110643764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 136 (I136T)
Ref Sequence ENSEMBL: ENSMUSP00000117039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098345] [ENSMUST00000141089] [ENSMUST00000198815]
AlphaFold Q402U7
Predicted Effect probably benign
Transcript: ENSMUST00000098345
AA Change: I136T

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095948
Gene: ENSMUSG00000032493
AA Change: I136T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Tryp_SPc 111 340 1.17e-84 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000141089
AA Change: I136T

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493
AA Change: I136T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Trypsin 112 144 1.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196597
Predicted Effect probably benign
Transcript: ENSMUST00000198815
SMART Domains Protein: ENSMUSP00000142633
Gene: ENSMUSG00000032493

DomainStartEndE-ValueType
Tryp_SPc 3 115 2.6e-5 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 G A 15: 98,495,055 (GRCm39) S719F probably benign Het
Als2 A G 1: 59,224,727 (GRCm39) V998A probably damaging Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ankrd52 A G 10: 128,224,824 (GRCm39) E820G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp6v0d2 T A 4: 19,910,677 (GRCm39) D71V probably damaging Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cnot7 A T 8: 40,963,171 (GRCm39) M1K probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Depdc5 G A 5: 33,101,421 (GRCm39) E904K probably damaging Het
Dip2c G T 13: 9,601,894 (GRCm39) L284F probably damaging Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Gabra4 T C 5: 71,814,600 (GRCm39) D40G probably benign Het
Gm9925 T C 18: 74,198,399 (GRCm39) probably benign Het
Igf2r T A 17: 12,928,355 (GRCm39) Q996L probably benign Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lin9 G T 1: 180,515,630 (GRCm39) G427* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyg2 C G 1: 37,949,150 (GRCm39) A71P probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Myl3 A G 9: 110,597,027 (GRCm39) H129R probably damaging Het
Naa16 T C 14: 79,580,702 (GRCm39) K604R probably damaging Het
Nedd4 C T 9: 72,632,359 (GRCm39) P398S probably benign Het
Neurl1a T C 19: 47,241,885 (GRCm39) V309A probably benign Het
Or10a2 A T 7: 106,673,110 (GRCm39) Q25L possibly damaging Het
Or6c210 T C 10: 129,496,407 (GRCm39) V244A probably damaging Het
Pacs1 T C 19: 5,205,787 (GRCm39) Y301C probably damaging Het
Parl A T 16: 20,101,762 (GRCm39) M90K probably damaging Het
Plxnc1 A T 10: 94,746,549 (GRCm39) probably null Het
Prkd2 C A 7: 16,587,180 (GRCm39) S375R probably benign Het
Rock1 G A 18: 10,122,768 (GRCm39) T351I probably damaging Het
Selenon T C 4: 134,267,081 (GRCm39) N507S possibly damaging Het
Slc38a7 C T 8: 96,572,809 (GRCm39) G141R probably damaging Het
Trpm4 C T 7: 44,971,422 (GRCm39) probably null Het
Ttn T A 2: 76,560,705 (GRCm39) N27486I probably damaging Het
Xylb T C 9: 119,209,753 (GRCm39) M346T probably damaging Het
Zbtb17 T C 4: 141,191,886 (GRCm39) F306L probably damaging Het
Other mutations in Prss44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Prss44 APN 9 110,644,557 (GRCm39) missense probably benign 0.04
IGL01647:Prss44 APN 9 110,643,745 (GRCm39) missense probably damaging 1.00
IGL02174:Prss44 APN 9 110,646,199 (GRCm39) missense probably damaging 1.00
BB008:Prss44 UTSW 9 110,643,746 (GRCm39) missense probably damaging 1.00
BB018:Prss44 UTSW 9 110,643,746 (GRCm39) missense probably damaging 1.00
R1800:Prss44 UTSW 9 110,646,272 (GRCm39) missense probably damaging 1.00
R1858:Prss44 UTSW 9 110,643,177 (GRCm39) missense probably benign 0.44
R6638:Prss44 UTSW 9 110,646,271 (GRCm39) missense probably damaging 1.00
R6746:Prss44 UTSW 9 110,644,361 (GRCm39) makesense probably null
R7267:Prss44 UTSW 9 110,645,611 (GRCm39) missense probably damaging 0.99
R7332:Prss44 UTSW 9 110,644,530 (GRCm39) missense probably damaging 1.00
R7698:Prss44 UTSW 9 110,646,379 (GRCm39) missense probably benign 0.02
R7931:Prss44 UTSW 9 110,643,746 (GRCm39) missense probably damaging 1.00
R8880:Prss44 UTSW 9 110,643,263 (GRCm39) missense probably benign 0.11
R8935:Prss44 UTSW 9 110,645,527 (GRCm39) missense probably damaging 1.00
R9122:Prss44 UTSW 9 110,646,362 (GRCm39) missense probably damaging 0.99
R9613:Prss44 UTSW 9 110,643,806 (GRCm39) missense probably damaging 1.00
Z1176:Prss44 UTSW 9 110,643,135 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCCAGGTTGTGAGGATCTG -3'
(R):5'- AAACCTGGGAGTGTCATCTTGTG -3'

Sequencing Primer
(F):5'- TGAGGATCTGGCGGGTG -3'
(R):5'- TGGCCTGGAAACTCACTATG -3'
Posted On 2015-04-17