Incidental Mutation 'R6430:Prss12'
ID 518473
Institutional Source Beutler Lab
Gene Symbol Prss12
Ensembl Gene ENSMUSG00000027978
Gene Name serine protease 12 neurotrypsin (motopsin)
Synonyms motopsin, Bssp-3
MMRRC Submission 044568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6430 (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 T at 123273243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 280 (S280C)
Ref Sequence ENSEMBL: ENSMUSP00000029603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029603]
AlphaFold O08762
Predicted Effect probably damaging
Transcript: ENSMUST00000029603
AA Change: S280C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: S280C

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (47/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,722 (GRCm39) probably benign Het
Ank1 T A 8: 23,622,125 (GRCm39) L1513Q probably damaging Het
Ap2a1 C A 7: 44,553,253 (GRCm39) V676L probably benign Het
Arid2 T C 15: 96,261,575 (GRCm39) V477A probably benign Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
B3gnt7 T C 1: 86,233,839 (GRCm39) F362L possibly damaging Het
Cd207 C T 6: 83,652,869 (GRCm39) R87H probably benign Het
Cdyl A G 13: 36,055,589 (GRCm39) K503R possibly damaging Het
Cep350 A G 1: 155,770,419 (GRCm39) S1824P probably damaging Het
Cmas T A 6: 142,713,650 (GRCm39) M225K probably benign Het
Dhx29 T C 13: 113,081,153 (GRCm39) S396P possibly damaging Het
Epg5 T C 18: 78,019,100 (GRCm39) S958P probably damaging Het
Espnl T C 1: 91,249,970 (GRCm39) L39P possibly damaging Het
Fcsk A G 8: 111,610,748 (GRCm39) V915A probably benign Het
Flacc1 T A 1: 58,717,448 (GRCm39) K154N probably damaging Het
Gatb A G 3: 85,544,345 (GRCm39) N438D probably benign Het
Hspg2 T C 4: 137,266,707 (GRCm39) C1932R probably damaging Het
Jmjd1c C T 10: 67,059,939 (GRCm39) T662I possibly damaging Het
Kcng4 A G 8: 120,359,789 (GRCm39) S196P probably damaging Het
Kcnh7 T G 2: 62,680,876 (GRCm39) H237P probably benign Het
Klhl38 T C 15: 58,185,707 (GRCm39) T341A probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Man2c1 T C 9: 57,038,517 (GRCm39) V59A possibly damaging Het
Nr2c1 A T 10: 94,031,203 (GRCm39) H588L possibly damaging Het
Or14a259 A T 7: 86,013,181 (GRCm39) Y121* probably null Het
Or2j3 T C 17: 38,616,249 (GRCm39) I34M probably benign Het
Osbpl6 A G 2: 76,409,620 (GRCm39) E494G probably damaging Het
Per1 T C 11: 68,995,122 (GRCm39) L638S probably damaging Het
Plekhn1 T C 4: 156,306,261 (GRCm39) E603G probably benign Het
Pudp A G 18: 50,701,307 (GRCm39) I142T probably benign Het
Rabl6 A T 2: 25,474,849 (GRCm39) N620K probably damaging Het
Rttn T A 18: 89,039,809 (GRCm39) C837S probably null Het
Slc16a7 A G 10: 125,066,887 (GRCm39) S251P probably damaging Het
Slc7a10 A G 7: 34,897,083 (GRCm39) I195V probably benign Het
Slc9a4 A T 1: 40,640,014 (GRCm39) R269* probably null Het
Slco6c1 T A 1: 97,003,699 (GRCm39) Q466L probably benign Het
Smc6 A G 12: 11,359,235 (GRCm39) N953S probably benign Het
Tex15 T C 8: 34,061,329 (GRCm39) V527A probably benign Het
Tln2 T C 9: 67,179,947 (GRCm39) Y808C probably damaging Het
Tmem145 T C 7: 25,008,463 (GRCm39) L289P possibly damaging Het
Trim3 A G 7: 105,267,212 (GRCm39) V389A probably benign Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Vps11 C A 9: 44,272,847 (GRCm39) A28S probably benign Het
Zbtb41 T A 1: 139,374,945 (GRCm39) S802T probably benign Het
Zmynd10 A T 9: 107,425,911 (GRCm39) K82* probably null 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
R6492:Prss12 UTSW 3 123,241,048 (GRCm39) missense probably benign
R6864:Prss12 UTSW 3 123,241,033 (GRCm39) missense probably benign 0.31
R7334:Prss12 UTSW 3 123,280,780 (GRCm39) missense probably benign
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'- TCAGGCCAAACAAAGATTCGTTC -3'
(R):5'- AAGCATCTGGTAAGTCAGGCATATC -3'

Sequencing Primer
(F):5'- AAACAAAGATTCGTTCTTCCCTC -3'
(R):5'- ACACCAGTGAGCCTTACT -3'
Posted On 2018-05-24