Incidental Mutation 'R2938:Prss12'
ID 256087
Institutional Source Beutler Lab
Gene Symbol Prss12
Ensembl Gene ENSMUSG00000027978
Gene Name serine protease 12 neurotrypsin (motopsin)
Synonyms motopsin, Bssp-3
MMRRC Submission 040515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R2938 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 123240562-123300246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123280625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 437 (T437A)
Ref Sequence ENSEMBL: ENSMUSP00000029603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029603]
AlphaFold O08762
Predicted Effect probably benign
Transcript: ENSMUST00000029603
AA Change: T437A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: T437A

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 0.0749 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 T A 2: 166,736,653 (GRCm39) I1775K probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Astn2 A T 4: 65,910,550 (GRCm39) H427Q possibly damaging Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc73 T A 2: 104,805,980 (GRCm39) L296* probably null Het
Cd40 G C 2: 164,911,622 (GRCm39) V191L probably benign Het
Cdc6 A G 11: 98,801,586 (GRCm39) I217V probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Cstl1 T A 2: 148,592,977 (GRCm39) I44N possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,222,900 (GRCm39) T1000S probably benign Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Gpr83 A G 9: 14,776,167 (GRCm39) T163A probably benign Het
Hmgcr G A 13: 96,799,576 (GRCm39) L173F probably damaging Het
Htr2b T A 1: 86,030,177 (GRCm39) I173F possibly damaging Het
Ifna11 T C 4: 88,738,530 (GRCm39) L112P probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Macf1 T C 4: 123,326,695 (GRCm39) N2815S probably damaging Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Man2b2 A G 5: 36,978,330 (GRCm39) I318T probably benign Het
Mib1 T A 18: 10,752,033 (GRCm39) probably benign Het
Myo10 T A 15: 25,795,803 (GRCm39) S1315T probably damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Opcml A G 9: 27,702,682 (GRCm39) M1V probably null Het
Or4d5 A T 9: 40,012,039 (GRCm39) I249K probably benign Het
Or5m3 T C 2: 85,838,357 (GRCm39) M79T probably damaging Het
Or6c66b T A 10: 129,376,484 (GRCm39) F26Y probably damaging Het
Parm1 T C 5: 91,742,328 (GRCm39) I232T possibly damaging Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Pfkfb2 G A 1: 130,633,147 (GRCm39) T202I possibly damaging Het
Postn T A 3: 54,277,731 (GRCm39) F242Y probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Saraf A G 8: 34,635,735 (GRCm39) N346D probably benign Het
Sec31b T C 19: 44,524,618 (GRCm39) D93G probably damaging Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Sh3rf2 A G 18: 42,282,789 (GRCm39) D449G probably benign Het
Slc9a3 T C 13: 74,269,788 (GRCm39) I52T possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Tmub1 A G 5: 24,650,922 (GRCm39) *261Q probably null Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Utp4 A G 8: 107,649,561 (GRCm39) D670G probably damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Wdsub1 T C 2: 59,703,630 (GRCm39) T112A possibly damaging Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Zfp808 G A 13: 62,319,032 (GRCm39) V67M probably benign 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
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'- CCTACGCCAATGAACAGTGTTAAG -3'
(R):5'- AGTGGTCCAGAAGTGACTCACC -3'

Sequencing Primer
(F):5'- CAGTGTTAAGTGTTCTGACAGTCAC -3'
(R):5'- GTCCAGAAGTGACTCACCTTTATTAC -3'
Posted On 2014-12-29