Incidental Mutation 'R7334:Prss12'
ID 569348
Institutional Source Beutler Lab
Gene Symbol Prss12
Ensembl Gene ENSMUSG00000027978
Gene Name serine protease 12 neurotrypsin (motopsin)
Synonyms motopsin, Bssp-3
MMRRC Submission 045371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7334 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 123240562-123300246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 123280780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 488 (L488F)
Ref Sequence ENSEMBL: ENSMUSP00000029603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029603]
AlphaFold O08762
Predicted Effect probably benign
Transcript: ENSMUST00000029603
AA Change: L488F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: L488F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 23 43 N/A INTRINSIC
low complexity region 45 64 N/A INTRINSIC
KR 83 159 2.07e-21 SMART
SR 166 266 4.68e-57 SMART
SR 273 372 9.67e-50 SMART
SR 386 486 3.55e-57 SMART
Tryp_SPc 516 755 6.38e-91 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity and increased anxiety. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,380 (GRCm39) C184S probably damaging Het
Acadm G T 3: 153,644,698 (GRCm39) S9* probably null Het
Acot10 C T 15: 20,665,629 (GRCm39) V371I possibly damaging Het
Adam8 T C 7: 139,568,903 (GRCm39) E199G probably damaging Het
Aldh18a1 A T 19: 40,539,696 (GRCm39) W762R probably damaging Het
Aldh1a1 T A 19: 20,599,075 (GRCm39) V162E probably damaging Het
Alms1 A G 6: 85,618,432 (GRCm39) D2357G probably damaging Het
Arfgef1 G T 1: 10,254,685 (GRCm39) Q718K probably damaging Het
Arid5b A C 10: 68,079,007 (GRCm39) V110G possibly damaging Het
Bpifb3 T A 2: 153,761,654 (GRCm39) D34E probably damaging Het
Cacfd1 C T 2: 26,905,558 (GRCm39) A85V possibly damaging Het
Cep57l1 C A 10: 41,597,596 (GRCm39) S345I probably benign Het
Cibar2 T C 8: 120,901,589 (GRCm39) T39A probably damaging Het
Clca3b G A 3: 144,542,417 (GRCm39) R462* probably null Het
Cyp26c1 G A 19: 37,677,323 (GRCm39) V251I probably benign Het
Dip2a A G 10: 76,110,080 (GRCm39) S1179P possibly damaging Het
Dnal1 T C 12: 84,173,780 (GRCm39) L27P probably damaging Het
Dock7 A G 4: 98,864,180 (GRCm39) V1288A unknown Het
Elmod1 A T 9: 53,841,508 (GRCm39) probably null Het
Epb41l5 T G 1: 119,551,679 (GRCm39) K102T probably damaging Het
Fermt3 T C 19: 6,980,406 (GRCm39) I358V probably benign Het
Frmd3 A G 4: 74,079,955 (GRCm39) I316V probably benign Het
Fryl T C 5: 73,204,839 (GRCm39) probably null Het
Gm4131 T A 14: 62,702,356 (GRCm39) H204L possibly damaging Het
Hmcn2 G A 2: 31,325,806 (GRCm39) G4278R probably damaging Het
Hmcn2 A G 2: 31,343,147 (GRCm39) S4558G possibly damaging Het
Igkv1-132 A G 6: 67,737,108 (GRCm39) T25A probably benign Het
Kcp T C 6: 29,485,511 (GRCm39) E1161G probably damaging Het
Macf1 A T 4: 123,293,235 (GRCm39) I5371K probably damaging Het
Malrd1 T A 2: 16,011,529 (GRCm39) C1670S probably damaging Het
Mfsd13a T A 19: 46,356,809 (GRCm39) V270E probably damaging Het
Mroh1 A G 15: 76,311,838 (GRCm39) I524V probably benign Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Myo7a C T 7: 97,728,573 (GRCm39) R800H probably benign Het
Ncald T A 15: 37,397,524 (GRCm39) Y52F probably damaging Het
Nherf1 C T 11: 115,054,593 (GRCm39) A81V possibly damaging Het
Nomo1 T C 7: 45,732,692 (GRCm39) S1152P probably damaging Het
Nr3c1 A G 18: 39,620,090 (GRCm39) F66L probably benign Het
Nrf1 T C 6: 30,118,970 (GRCm39) L363S probably benign Het
Or4n4 C A 14: 50,519,036 (GRCm39) V225F probably benign Het
Or8b12b A T 9: 37,684,293 (GRCm39) I113F probably damaging Het
Osbpl3 A G 6: 50,321,886 (GRCm39) M300T possibly damaging Het
Parpbp T A 10: 87,947,617 (GRCm39) N339I probably damaging Het
Pdlim5 A T 3: 141,950,678 (GRCm39) H578Q probably damaging Het
Pear1 T C 3: 87,657,532 (GRCm39) N1009S probably damaging Het
Pnpla8 A G 12: 44,358,286 (GRCm39) I745M probably damaging Het
Pom121l12 C A 11: 14,549,681 (GRCm39) T129K probably damaging Het
Ppp1r14a T C 7: 28,992,687 (GRCm39) S130P probably damaging Het
Psd3 C T 8: 68,361,357 (GRCm39) V559I possibly damaging Het
Rrh T C 3: 129,602,631 (GRCm39) T364A probably benign Het
Shcbp1 A T 8: 4,791,876 (GRCm39) M479K probably damaging Het
Shcbp1 A C 8: 4,804,310 (GRCm39) F200C probably damaging Het
Slx1b G T 7: 126,291,699 (GRCm39) R122S probably damaging Het
Spata31f1e G A 4: 42,793,856 (GRCm39) T92I possibly damaging Het
Spidr A G 16: 15,932,689 (GRCm39) probably null Het
St18 G A 1: 6,872,783 (GRCm39) D173N probably benign Het
Stambpl1 T C 19: 34,204,048 (GRCm39) I46T probably damaging Het
Syne1 C T 10: 5,007,886 (GRCm39) D113N probably damaging Het
Tg G A 15: 66,597,121 (GRCm39) V1741I probably benign Het
Thsd7b T A 1: 130,123,012 (GRCm39) W1544R probably benign Het
Tiam2 G A 17: 3,553,283 (GRCm39) R1120H possibly damaging Het
Tinag A T 9: 76,908,931 (GRCm39) C337S probably damaging Het
Tm4sf1 G C 3: 57,200,510 (GRCm39) A64G probably damaging Het
Tmprss6 A G 15: 78,328,017 (GRCm39) Y572H unknown Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Txndc11 A G 16: 10,946,425 (GRCm39) Y129H probably damaging Het
Ube3b T C 5: 114,553,742 (GRCm39) F974S possibly damaging Het
Utrn C A 10: 12,603,753 (GRCm39) probably null Het
Vmn1r58 T A 7: 5,414,066 (GRCm39) M55L probably benign Het
Vnn1 T A 10: 23,776,658 (GRCm39) S336R probably benign Het
Wwc2 T C 8: 48,322,829 (GRCm39) Y424C unknown Het
Zfp507 T C 7: 35,475,505 (GRCm39) I903V probably damaging Het
Zfp551 C T 7: 12,150,681 (GRCm39) G243R probably damaging Het
Zfp60 T A 7: 27,448,444 (GRCm39) C371S probably damaging Het
Other mutations in Prss12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Prss12 APN 3 123,280,598 (GRCm39) splice site probably benign
IGL01090:Prss12 APN 3 123,276,388 (GRCm39) missense possibly damaging 0.85
IGL01609:Prss12 APN 3 123,276,483 (GRCm39) missense probably damaging 1.00
IGL02406:Prss12 APN 3 123,299,123 (GRCm39) missense possibly damaging 0.81
IGL02445:Prss12 APN 3 123,280,669 (GRCm39) missense probably damaging 1.00
IGL02928:Prss12 APN 3 123,280,805 (GRCm39) missense possibly damaging 0.51
IGL02970:Prss12 APN 3 123,276,411 (GRCm39) missense probably benign 0.03
IGL03116:Prss12 APN 3 123,299,925 (GRCm39) missense probably benign
IGL03149:Prss12 APN 3 123,299,036 (GRCm39) missense probably benign 0.00
nerd UTSW 3 123,241,033 (GRCm39) missense probably benign 0.31
twerp UTSW 3 123,276,423 (GRCm39) missense probably damaging 1.00
F5426:Prss12 UTSW 3 123,300,121 (GRCm39) missense probably damaging 1.00
P4717OSA:Prss12 UTSW 3 123,241,267 (GRCm39) missense probably damaging 1.00
PIT4576001:Prss12 UTSW 3 123,280,764 (GRCm39) missense probably damaging 1.00
R0116:Prss12 UTSW 3 123,276,423 (GRCm39) missense probably damaging 1.00
R0528:Prss12 UTSW 3 123,276,445 (GRCm39) missense probably benign 0.00
R0762:Prss12 UTSW 3 123,279,153 (GRCm39) missense probably damaging 1.00
R1051:Prss12 UTSW 3 123,279,174 (GRCm39) missense probably null 0.99
R1916:Prss12 UTSW 3 123,300,144 (GRCm39) missense probably benign 0.07
R2185:Prss12 UTSW 3 123,280,793 (GRCm39) missense probably benign 0.01
R2389:Prss12 UTSW 3 123,280,670 (GRCm39) missense possibly damaging 0.63
R2938:Prss12 UTSW 3 123,280,625 (GRCm39) missense probably benign 0.00
R3118:Prss12 UTSW 3 123,298,976 (GRCm39) missense possibly damaging 0.92
R3119:Prss12 UTSW 3 123,298,976 (GRCm39) missense possibly damaging 0.92
R4080:Prss12 UTSW 3 123,279,134 (GRCm39) missense probably benign 0.44
R4161:Prss12 UTSW 3 123,279,176 (GRCm39) nonsense probably null
R4997:Prss12 UTSW 3 123,240,857 (GRCm39) missense probably benign 0.01
R5291:Prss12 UTSW 3 123,299,112 (GRCm39) missense probably damaging 0.98
R5597:Prss12 UTSW 3 123,258,389 (GRCm39) missense probably benign 0.18
R5941:Prss12 UTSW 3 123,299,150 (GRCm39) missense probably benign 0.01
R6005:Prss12 UTSW 3 123,276,417 (GRCm39) missense probably benign 0.00
R6119:Prss12 UTSW 3 123,283,258 (GRCm39) missense possibly damaging 0.64
R6430:Prss12 UTSW 3 123,273,243 (GRCm39) missense probably damaging 1.00
R6492:Prss12 UTSW 3 123,241,048 (GRCm39) missense probably benign
R6864:Prss12 UTSW 3 123,241,033 (GRCm39) missense probably benign 0.31
R7492:Prss12 UTSW 3 123,276,425 (GRCm39) nonsense probably null
R7669:Prss12 UTSW 3 123,241,045 (GRCm39) missense probably benign
R7898:Prss12 UTSW 3 123,300,145 (GRCm39) missense possibly damaging 0.55
R8206:Prss12 UTSW 3 123,258,611 (GRCm39) splice site probably null
R8835:Prss12 UTSW 3 123,285,201 (GRCm39) missense possibly damaging 0.47
R9035:Prss12 UTSW 3 123,279,149 (GRCm39) missense probably damaging 0.99
R9307:Prss12 UTSW 3 123,299,049 (GRCm39) missense probably benign 0.01
R9782:Prss12 UTSW 3 123,271,762 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- ATCTGAAGAGCACTCTGTTTCC -3'
(R):5'- AGACTGCAAGCTTCCAGGAG -3'

Sequencing Primer
(F):5'- CAGGGGTCCTGCCAGAG -3'
(R):5'- AAGCTTCCAGGAGCCCACTTG -3'
Posted On 2019-09-13