Incidental Mutation 'R6761:Prss45'
| ID |
531707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss45
|
| Ensembl Gene |
ENSMUSG00000047257 |
| Gene Name |
serine protease 45 |
| Synonyms |
|
| MMRRC Submission |
044877-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110663656-110670378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110669487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 197
(A197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011391]
[ENSMUST00000146794]
[ENSMUST00000176403]
|
| AlphaFold |
Q8K4I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011391
AA Change: A197S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000011391
Gene: ENSMUSG00000047257
AA Change: A197S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
44 |
286 |
6.39e-50 |
SMART |
|
low complexity region
|
302 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146794
AA Change: A188S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120471
Gene: ENSMUSG00000047257
AA Change: A188S
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
35 |
277 |
3.19e-50 |
SMART |
|
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176403
|
| SMART Domains |
Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
43 |
276 |
1.62e-60 |
SMART |
|
transmembrane domain
|
291 |
313 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5503 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Actr3b |
C |
T |
5: 26,030,137 (GRCm39) |
S67F |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,088,096 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,122,155 (GRCm39) |
G241D |
unknown |
Het |
| Cit |
T |
G |
5: 116,046,734 (GRCm39) |
D382E |
probably damaging |
Het |
| Clec3b |
G |
T |
9: 122,986,004 (GRCm39) |
G134V |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Dst |
T |
C |
1: 34,253,631 (GRCm39) |
S4300P |
probably damaging |
Het |
| Ebna1bp2 |
C |
T |
4: 118,480,558 (GRCm39) |
R134* |
probably null |
Het |
| Efcab14 |
T |
C |
4: 115,596,024 (GRCm39) |
S57P |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,560,875 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,043,145 (GRCm39) |
T630A |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,244,477 (GRCm39) |
I203N |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,137,996 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
G |
T |
6: 70,675,501 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,965,047 (GRCm39) |
D471G |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,172,061 (GRCm39) |
Y281H |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,656,620 (GRCm39) |
T584A |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,561 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52a24 |
C |
T |
7: 103,381,691 (GRCm39) |
A186V |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,721,173 (GRCm39) |
G396D |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,716,578 (GRCm39) |
H198L |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,768,104 (GRCm39) |
I314N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,620,286 (GRCm39) |
M458T |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,945,714 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
T |
C |
8: 46,225,651 (GRCm39) |
S254P |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,144 (GRCm39) |
|
probably null |
Het |
| Tedc1 |
A |
G |
12: 113,125,334 (GRCm39) |
D252G |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,186,790 (GRCm39) |
H145R |
probably damaging |
Homo |
| Vmn1r9 |
A |
G |
6: 57,048,291 (GRCm39) |
Y122C |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,817,908 (GRCm39) |
N1491Y |
possibly damaging |
Het |
| Wdr37 |
T |
C |
13: 8,899,684 (GRCm39) |
T140A |
probably benign |
Het |
|
| Other mutations in Prss45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Prss45
|
APN |
9 |
110,670,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00561:Prss45
|
APN |
9 |
110,669,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03392:Prss45
|
APN |
9 |
110,669,618 (GRCm39) |
nonsense |
probably null |
|
|
BB002:Prss45
|
UTSW |
9 |
110,670,103 (GRCm39) |
missense |
unknown |
|
|
BB012:Prss45
|
UTSW |
9 |
110,670,103 (GRCm39) |
missense |
unknown |
|
|
PIT4260001:Prss45
|
UTSW |
9 |
110,667,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0025:Prss45
|
UTSW |
9 |
110,669,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0576:Prss45
|
UTSW |
9 |
110,667,497 (GRCm39) |
missense |
probably benign |
|
|
R1464:Prss45
|
UTSW |
9 |
110,670,019 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1464:Prss45
|
UTSW |
9 |
110,670,019 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1572:Prss45
|
UTSW |
9 |
110,667,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2420:Prss45
|
UTSW |
9 |
110,668,160 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4289:Prss45
|
UTSW |
9 |
110,669,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5049:Prss45
|
UTSW |
9 |
110,669,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7379:Prss45
|
UTSW |
9 |
110,668,261 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7925:Prss45
|
UTSW |
9 |
110,670,103 (GRCm39) |
missense |
unknown |
|
|
R9348:Prss45
|
UTSW |
9 |
110,668,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prss45
|
UTSW |
9 |
110,668,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAACCAAGCAAGGCCTTG -3'
(R):5'- TGGATTGCAGCCAGTACAGTC -3'
Sequencing Primer
(F):5'- TTGCTGTGTCCGCCAGC -3'
(R):5'- TTGCAGCCAGTACAGTCATAAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation