Incidental Mutation 'R5147:Prss16'
| ID |
395167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss16
|
| Ensembl Gene |
ENSMUSG00000006179 |
| Gene Name |
serine protease 16 (thymus) |
| Synonyms |
TSSP |
| MMRRC Submission |
042731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5147 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22186346-22193911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22190264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006341]
[ENSMUST00000150547]
|
| AlphaFold |
Q9QXE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006341
AA Change: D298G
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179
AA Change: D298G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
53 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S28
|
63 |
493 |
1.9e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223857
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable with no gross abnormalities and normal T cell development and activation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
| Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
| Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
| Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
| Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
| Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
| Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
| Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
| Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
| Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
| Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
| Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
| Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
| Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
| Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
| Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
| Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
| Other mutations in Prss16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02025:Prss16
|
APN |
13 |
22,187,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02272:Prss16
|
APN |
13 |
22,187,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02383:Prss16
|
APN |
13 |
22,193,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02892:Prss16
|
APN |
13 |
22,187,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03325:Prss16
|
APN |
13 |
22,187,417 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
BB001:Prss16
|
UTSW |
13 |
22,192,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB011:Prss16
|
UTSW |
13 |
22,192,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0645:Prss16
|
UTSW |
13 |
22,193,546 (GRCm39) |
unclassified |
probably benign |
|
|
R0970:Prss16
|
UTSW |
13 |
22,189,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Prss16
|
UTSW |
13 |
22,191,138 (GRCm39) |
unclassified |
probably benign |
|
|
R1292:Prss16
|
UTSW |
13 |
22,193,691 (GRCm39) |
nonsense |
probably null |
|
|
R1371:Prss16
|
UTSW |
13 |
22,192,856 (GRCm39) |
unclassified |
probably benign |
|
|
R1525:Prss16
|
UTSW |
13 |
22,193,613 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1624:Prss16
|
UTSW |
13 |
22,187,483 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2233:Prss16
|
UTSW |
13 |
22,193,579 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5670:Prss16
|
UTSW |
13 |
22,187,221 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6440:Prss16
|
UTSW |
13 |
22,187,330 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6668:Prss16
|
UTSW |
13 |
22,190,918 (GRCm39) |
missense |
probably null |
0.01 |
|
R6791:Prss16
|
UTSW |
13 |
22,190,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7278:Prss16
|
UTSW |
13 |
22,187,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Prss16
|
UTSW |
13 |
22,192,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8865:Prss16
|
UTSW |
13 |
22,187,175 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8980:Prss16
|
UTSW |
13 |
22,187,212 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9139:Prss16
|
UTSW |
13 |
22,192,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Prss16
|
UTSW |
13 |
22,192,754 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9276:Prss16
|
UTSW |
13 |
22,190,175 (GRCm39) |
start gained |
probably benign |
|
|
R9318:Prss16
|
UTSW |
13 |
22,191,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9748:Prss16
|
UTSW |
13 |
22,192,504 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Prss16
|
UTSW |
13 |
22,190,570 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Prss16
|
UTSW |
13 |
22,190,224 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGAGGATTTCGGTCGTC -3'
(R):5'- GCTTCTCGCTTTCCGAAGTG -3'
Sequencing Primer
(F):5'- CGTCTGAACTCGGTGAAGG -3'
(R):5'- CGCTTTCCGAAGTGTCTGGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation