Incidental Mutation 'R2185:Prss12'
ID 237808
Institutional Source Beutler Lab
Gene Symbol Prss12
Ensembl Gene ENSMUSG00000027978
Gene Name serine protease 12 neurotrypsin (motopsin)
Synonyms motopsin, Bssp-3
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 123240562-123300246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123280793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 493 (S493T)
Ref Sequence ENSEMBL: ENSMUSP00000029603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029603]
AlphaFold O08762
Predicted Effect probably benign
Transcript: ENSMUST00000029603
AA Change: S493T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: S493T

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
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly 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
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
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'- AAGAGCACTCTGTTTCCAGG -3'
(R):5'- AGACTGCAAGCTTCCAGGAG -3'

Sequencing Primer
(F):5'- AGGGGTCCTGCCAGAGC -3'
(R):5'- AAGCTTCCAGGAGCCCACTTG -3'
Posted On 2014-10-02