Incidental Mutation 'R8206:Prss12'
| ID |
652098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss12
|
| Ensembl Gene |
ENSMUSG00000027978 |
| Gene Name |
serine protease 12 neurotrypsin (motopsin) |
| Synonyms |
motopsin, Bssp-3 |
| MMRRC Submission |
067629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8206 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
123240562-123300246 bp(+) (GRCm39) |
| Type of Mutation |
splice site (75 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 123258611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029603]
|
| AlphaFold |
O08762 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029603
|
| SMART Domains |
Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (50/50) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,860,958 (GRCm39) |
Y342H |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,526,716 (GRCm39) |
D255V |
possibly damaging |
Het |
| Arhgap26 |
C |
A |
18: 39,439,803 (GRCm39) |
S247* |
probably null |
Het |
| Arid4a |
A |
G |
12: 71,133,361 (GRCm39) |
D1154G |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,295,304 (GRCm39) |
I182T |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,274,016 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,399,146 (GRCm39) |
S205G |
probably damaging |
Het |
| Cep63 |
A |
G |
9: 102,498,470 (GRCm39) |
|
probably benign |
Het |
| Cripto |
G |
A |
9: 110,773,352 (GRCm39) |
|
probably benign |
Het |
| Cyp24a1 |
T |
C |
2: 170,333,589 (GRCm39) |
T255A |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,210,336 (GRCm39) |
S787P |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,014,549 (GRCm39) |
C3679* |
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,429,155 (GRCm39) |
Y95C |
probably damaging |
Het |
| Erc2 |
G |
A |
14: 28,024,972 (GRCm39) |
|
probably null |
Het |
| Ezh2 |
A |
T |
6: 47,509,834 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
G |
8: 26,060,258 (GRCm39) |
T463A |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,820,808 (GRCm39) |
S5514P |
possibly damaging |
Het |
| Glrb |
A |
G |
3: 80,758,373 (GRCm39) |
Y347H |
probably damaging |
Het |
| Gm14325 |
C |
A |
2: 177,474,767 (GRCm39) |
C105F |
probably damaging |
Het |
| Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
| Ighv1-76 |
T |
C |
12: 115,811,934 (GRCm39) |
M1V |
probably null |
Het |
| Inppl1 |
A |
G |
7: 101,472,783 (GRCm39) |
I1207T |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,519,537 (GRCm39) |
Q2191L |
probably damaging |
Het |
| Krt79 |
T |
A |
15: 101,848,705 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
A |
13: 102,872,247 (GRCm39) |
L2374F |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,657,169 (GRCm39) |
N951S |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,431,344 (GRCm39) |
C1164* |
probably null |
Het |
| Nfatc2ip |
G |
T |
7: 125,989,906 (GRCm39) |
D189E |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,184,438 (GRCm39) |
D361G |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,786,374 (GRCm39) |
I293T |
probably damaging |
Het |
| Pate5 |
A |
T |
9: 35,750,719 (GRCm39) |
F34L |
possibly damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,611 (GRCm39) |
V831A |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,715,905 (GRCm39) |
|
probably null |
Het |
| Plch1 |
G |
T |
3: 63,610,047 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,898,277 (GRCm39) |
T973A |
possibly damaging |
Het |
| Ppp1r35 |
T |
A |
5: 137,778,296 (GRCm39) |
I97K |
unknown |
Het |
| Ppp1r3c |
C |
T |
19: 36,710,846 (GRCm39) |
G308E |
probably benign |
Het |
| Rad51b |
A |
G |
12: 79,361,715 (GRCm39) |
D142G |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,248,745 (GRCm39) |
G553D |
probably damaging |
Het |
| Spata31d1d |
A |
C |
13: 59,879,344 (GRCm39) |
V64G |
probably benign |
Het |
| Srp68 |
G |
A |
11: 116,164,809 (GRCm39) |
R42C |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,062,365 (GRCm39) |
V4229A |
probably benign |
Het |
| Tas2r144 |
G |
A |
6: 42,192,325 (GRCm39) |
V22M |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,604,395 (GRCm39) |
L583P |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,749,214 (GRCm39) |
D708G |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,976,627 (GRCm39) |
L98Q |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,612,717 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACTTTGTGTCACACAGGCC -3'
(R):5'- TGTGAGTTACAGAAAGGCCACTC -3'
Sequencing Primer
(F):5'- CATTCGCCTTGTTGGTGGGAAC -3'
(R):5'- CATGAAAGCAGTGCAGGTCTTAGTTC -3'
|
| Posted On |
2020-10-14 |
Incidental Mutation