Incidental Mutation 'F5426:Prss12'
| ID |
586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss12
|
| Ensembl Gene |
ENSMUSG00000027978 |
| Gene Name |
serine protease 12 neurotrypsin (motopsin) |
| Synonyms |
motopsin, Bssp-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
F5426 (G1)
of strain
24G1
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
123240562-123300246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123300121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 744
(V744A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029603]
|
| AlphaFold |
O08762 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029603
AA Change: V744A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: V744A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199645
|
| Meta Mutation Damage Score |
0.5013 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.2% |
| Validation Efficiency |
91% (29/32) |
| 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: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdk5rap2 |
A |
T |
4: 70,173,040 (GRCm39) |
V1344E |
probably benign |
Het |
| D16Ertd472e |
C |
T |
16: 78,344,889 (GRCm39) |
C73Y |
probably damaging |
Het |
| Grk4 |
G |
A |
5: 34,902,503 (GRCm39) |
|
probably benign |
Het |
| Odc1 |
G |
A |
12: 17,599,424 (GRCm39) |
|
probably null |
Het |
| Or5v1 |
A |
C |
17: 37,810,427 (GRCm39) |
K295T |
probably damaging |
Het |
| Pudp |
A |
T |
18: 50,701,612 (GRCm39) |
N40K |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,478,876 (GRCm39) |
I107T |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,596,683 (GRCm39) |
|
probably benign |
Het |
| Sh2d1b1 |
C |
A |
1: 170,107,350 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,222,546 (GRCm39) |
V82D |
probably benign |
Het |
|
| Other mutations in Prss12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to C transition at position 2477 of the Prss12 transcript in exon 11 of 11 exons using Genbank record NM_008939.2. The mutated nucleotide causes a valine to alanine substitution at amino acid 744 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method.
|
| Protein Function and Prediction |
The Prss12 gene encodes a 761 amino acid extracellular multidomain serine protease associated with neural development and plasticity. The protein contains a Kringle domain at residues 85-157, three SRCR (Speract/scavenger receptor related) domains at amino acids 166-267, 273-373 and 386-487, and a peptidase domain at residues 517-760. (Uniprot O08762). Kringle domains are believed to play a role in binding mediators (e.g., membranes, other proteins or phospholipids), and in the regulation of proteolytic activity. Mice homozygous for a targeted mutation display hypoactivity and increased anxiety. A human mutation in PRSS12 causes autosomal recessive nonsyndromic mental retardation (OMIM 249500).
The V744A alteration occurs in the peptidase domain.
|
| Posted On |
2011-03-09 |
Incidental Mutation