Incidental Mutation 'R6119:Prss12'
| ID |
485645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss12
|
| Ensembl Gene |
ENSMUSG00000027978 |
| Gene Name |
serine protease 12 neurotrypsin (motopsin) |
| Synonyms |
motopsin, Bssp-3 |
| MMRRC Submission |
044429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
123240562-123300246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123283258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 517
(I517V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029603]
|
| AlphaFold |
O08762 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029603
AA Change: I517V
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029603
Gene: ENSMUSG00000027978
AA Change: I517V
| 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 |
|
| Meta Mutation Damage Score |
0.1813 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
| 4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
| Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
| Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
| Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
| Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
| Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
| Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
| Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
| Lair1 |
T |
C |
7: 4,031,895 (GRCm39) |
M71V |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
| Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
| Mthfd1 |
A |
T |
12: 76,350,447 (GRCm39) |
I462F |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,457,938 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
| Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
| Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
| Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
| Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
| Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
| Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,877 (GRCm39) |
K1359E |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,547 (GRCm39) |
E421V |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
| Tmem131l |
A |
T |
3: 83,805,689 (GRCm39) |
F1585I |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
possibly 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 |
|
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 |
|
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'- GATCCTTCAGAGTCCAGTGAC -3'
(R):5'- ACTGAATCTGCATCAAAGGGC -3'
Sequencing Primer
(F):5'- CCTGATCTACTTGCATGAAATGTG -3'
(R):5'- CTGCATCAAAGGGCAGGAAAACTATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation