Incidental Mutation 'R0762:Prss12'
ID 72439
Institutional Source Beutler Lab
Gene Symbol Prss12
Ensembl Gene ENSMUSG00000027978
Gene Name serine protease 12 neurotrypsin (motopsin)
Synonyms motopsin, Bssp-3
MMRRC Submission 038942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0762 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 123240562-123300246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123279153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 410 (I410T)
Ref Sequence ENSEMBL: ENSMUSP00000029603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029603]
AlphaFold O08762
Predicted Effect probably damaging
Transcript: ENSMUST00000029603
AA Change: I410T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: I410T

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 0.7000 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 93.9%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,667 (GRCm39) N475I probably damaging Het
Adar T C 3: 89,647,290 (GRCm39) probably benign Het
Aldh3b3 A T 19: 4,015,747 (GRCm39) probably null Het
Amtn C T 5: 88,532,859 (GRCm39) T158I possibly damaging Het
Ap1g2 A G 14: 55,337,868 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,119,584 (GRCm39) Y318C probably damaging Het
Atg2b A C 12: 105,641,229 (GRCm39) V69G possibly damaging Het
Bbx G A 16: 50,045,529 (GRCm39) T236I possibly damaging Het
Bcl11b C T 12: 107,931,922 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,889,377 (GRCm39) I794V probably benign Het
Ccdc88a C T 11: 29,413,112 (GRCm39) probably benign Het
Cdhr3 C A 12: 33,110,300 (GRCm39) R328L probably benign Het
Ces2e T A 8: 105,656,496 (GRCm39) M242K probably damaging Het
Col12a1 A G 9: 79,588,656 (GRCm39) probably benign Het
Col3a1 T C 1: 45,360,686 (GRCm39) S39P unknown Het
Cplane1 A G 15: 8,247,900 (GRCm39) probably benign Het
Cyp2a5 T A 7: 26,538,298 (GRCm39) Y220* probably null Het
Dcc T A 18: 71,475,776 (GRCm39) probably benign Het
Dnajb8 A G 6: 88,200,036 (GRCm39) T191A probably damaging Het
Ephx2 A T 14: 66,339,628 (GRCm39) F199I probably damaging Het
Fancd2 A G 6: 113,551,619 (GRCm39) K1062E probably benign Het
Fbxo33 A G 12: 59,251,285 (GRCm39) V410A probably benign Het
Gars1 T G 6: 55,054,565 (GRCm39) probably null Het
Git1 A C 11: 77,390,660 (GRCm39) D132A possibly damaging Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gucy1a1 T C 3: 82,002,203 (GRCm39) T44A unknown Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifnlr1 A G 4: 135,428,640 (GRCm39) K156E possibly damaging Het
Klf13 T C 7: 63,541,371 (GRCm39) N15S probably benign Het
Krt77 T C 15: 101,769,561 (GRCm39) probably null Het
Ldc1 A G 4: 130,115,417 (GRCm39) S44P probably damaging Het
Map4 C A 9: 109,867,546 (GRCm39) probably benign Het
Mthfr T C 4: 148,139,900 (GRCm39) I623T possibly damaging Het
Myo7b T A 18: 32,116,997 (GRCm39) T908S probably benign Het
Nbeal2 T G 9: 110,472,876 (GRCm39) probably benign Het
Nwd2 T G 5: 63,957,757 (GRCm39) F362L probably benign Het
Pcm1 A T 8: 41,714,057 (GRCm39) R208W probably damaging Het
Pkd2l1 T C 19: 44,138,909 (GRCm39) D647G probably benign Het
Plbd1 C T 6: 136,618,145 (GRCm39) V24M probably damaging Het
Polr2a G A 11: 69,625,943 (GRCm39) P1698S unknown Het
Ptpre A G 7: 135,280,964 (GRCm39) N565S probably damaging Het
Rab44 T C 17: 29,364,244 (GRCm39) L606P unknown Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Rhd C T 4: 134,603,612 (GRCm39) probably benign Het
Rspo3 T A 10: 29,375,917 (GRCm39) probably benign Het
Sdccag8 T A 1: 176,773,710 (GRCm39) N555K probably benign Het
Skint6 T A 4: 112,722,848 (GRCm39) probably benign Het
Slc22a20 G A 19: 6,036,036 (GRCm39) P45S probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Spats2l T C 1: 57,925,043 (GRCm39) L127P possibly damaging Het
Taar8a T A 10: 23,952,975 (GRCm39) I193N probably benign Het
Ten1 C T 11: 116,107,510 (GRCm39) probably benign Het
Tfb2m T C 1: 179,373,398 (GRCm39) E100G probably damaging Het
Tom1 C T 8: 75,778,934 (GRCm39) probably benign Het
Vps52 G T 17: 34,178,985 (GRCm39) R171L probably damaging Het
Zcwpw2 A T 9: 117,843,182 (GRCm39) noncoding transcript Het
Zfhx4 G A 3: 5,468,880 (GRCm39) E3013K probably damaging Het
Zfp267 G A 3: 36,220,016 (GRCm39) D680N possibly damaging Het
Zfp777 C T 6: 48,006,294 (GRCm39) V411M 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
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
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'- TAGAGTGCCATGCACCTGTTGTCC -3'
(R):5'- TACTCCACAGCACTGTCATCGAGC -3'

Sequencing Primer
(F):5'- ccatccatccatccatccatc -3'
(R):5'- ACTGTCATCGAGCTGCAC -3'
Posted On 2013-09-30