Incidental Mutation 'R5291:Prss12'
ID |
405133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss12
|
Ensembl Gene |
ENSMUSG00000027978 |
Gene Name |
serine protease 12 neurotrypsin (motopsin) |
Synonyms |
motopsin, Bssp-3 |
MMRRC Submission |
042874-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R5291 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
123240562-123300246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123299112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 628
(L628P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029603]
|
AlphaFold |
O08762 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029603
AA Change: L628P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029603 Gene: ENSMUSG00000027978 AA Change: L628P
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
Atp6v1e1 |
C |
A |
6: 120,795,294 (GRCm39) |
|
probably null |
Het |
Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
Fndc3b |
C |
A |
3: 27,697,144 (GRCm39) |
V23L |
probably benign |
Het |
Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
Pramel11 |
G |
T |
4: 143,622,237 (GRCm39) |
P373T |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
Scarf1 |
T |
C |
11: 75,414,900 (GRCm39) |
S525P |
probably damaging |
Het |
Senp7 |
T |
A |
16: 56,006,542 (GRCm39) |
Y982* |
probably null |
Het |
Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
Txlnb |
A |
T |
10: 17,675,144 (GRCm39) |
D99V |
possibly damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
probably damaging |
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 |
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 |
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'- TGGCTAAGTTTGCTAAAGGACAG -3'
(R):5'- AAGGTCATACCATTGCACATCC -3'
Sequencing Primer
(F):5'- TCTCCCTTCAGGTACGGAAAC -3'
(R):5'- GTCATACCATTGCACATCCTAACATG -3'
|
Posted On |
2016-07-22 |