Incidental Mutation 'R0111:Prss36'
| ID |
20456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss36
|
| Ensembl Gene |
ENSMUSG00000070371 |
| Gene Name |
serine protease 36 |
| Synonyms |
C330007D15Rik, polyserase-2 |
| MMRRC Submission |
038397-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
127531810-127545897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127533717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 530
(L530P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032988]
[ENSMUST00000094026]
[ENSMUST00000118755]
[ENSMUST00000141385]
[ENSMUST00000156152]
[ENSMUST00000206124]
[ENSMUST00000206568]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032988
|
| SMART Domains |
Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
44 |
281 |
3.55e-98 |
SMART |
|
low complexity region
|
320 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094026
AA Change: L541P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: L541P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
47 |
287 |
3.75e-88 |
SMART |
|
Pfam:Trypsin
|
325 |
556 |
1.2e-16 |
PFAM |
|
Pfam:Trypsin
|
599 |
798 |
6.6e-20 |
PFAM |
|
Pfam:DUF1986
|
607 |
707 |
1.4e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118755
AA Change: L530P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: L530P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
47 |
287 |
3.75e-88 |
SMART |
|
Pfam:Trypsin
|
325 |
545 |
9.7e-18 |
PFAM |
|
Pfam:Trypsin
|
588 |
787 |
6.5e-20 |
PFAM |
|
Pfam:DUF1986
|
590 |
696 |
8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141385
AA Change: L29P
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371
AA Change: L29P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tryp_SPc
|
38 |
121 |
3e-44 |
BLAST |
|
SCOP:d1eaxa_
|
45 |
126 |
7e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150591
|
| SMART Domains |
Protein: ENSMUSP00000121532
Gene: ENSMUSG00000070371
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
15 |
194 |
6.48e-2 |
SMART |
|
Blast:Tryp_SPc
|
231 |
311 |
4e-30 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152697
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156152
AA Change: L29P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371
AA Change: L29P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tryp_SPc
|
2 |
44 |
1e-21 |
BLAST |
|
Tryp_SPc
|
89 |
238 |
8.18e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206568
|
| Meta Mutation Damage Score |
0.6893 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.8%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
T |
17: 56,124,073 (GRCm39) |
H491L |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,738 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,606,743 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,594,864 (GRCm39) |
Y334H |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,717,157 (GRCm39) |
D101V |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,907,566 (GRCm39) |
N57K |
probably benign |
Het |
| Clec4d |
C |
A |
6: 123,245,006 (GRCm39) |
Y95* |
probably null |
Het |
| Cracr2a |
A |
G |
6: 127,581,024 (GRCm39) |
T67A |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,533,961 (GRCm39) |
V53D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,507,843 (GRCm39) |
D3076G |
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,464 (GRCm39) |
M608T |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,794,183 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,454,339 (GRCm39) |
V1884A |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,879,595 (GRCm39) |
S674R |
probably benign |
Het |
| Hoxa2 |
T |
G |
6: 52,141,467 (GRCm39) |
|
probably null |
Het |
| Ifi47 |
T |
A |
11: 48,986,897 (GRCm39) |
N221K |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,333,662 (GRCm39) |
V340A |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,851,960 (GRCm39) |
N373K |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,129,771 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,523 (GRCm39) |
T6A |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,044,493 (GRCm39) |
I131F |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,361,991 (GRCm39) |
D91G |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,577,702 (GRCm39) |
T572I |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,046,077 (GRCm39) |
F1710L |
probably benign |
Het |
| Or13e8 |
T |
C |
4: 43,696,648 (GRCm39) |
N175S |
probably damaging |
Het |
| Or6c6c |
T |
A |
10: 129,541,146 (GRCm39) |
I133N |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,555,254 (GRCm39) |
L92P |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,462,651 (GRCm39) |
Y1445* |
probably null |
Het |
| Pde1b |
T |
C |
15: 103,411,940 (GRCm39) |
S14P |
probably benign |
Het |
| Pitpna |
T |
C |
11: 75,516,310 (GRCm39) |
V265A |
probably benign |
Het |
| Plec |
G |
T |
15: 76,062,846 (GRCm39) |
T2476K |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
| Ppp3cc |
C |
T |
14: 70,493,808 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
T |
C |
5: 103,728,629 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,214,691 (GRCm39) |
D1570G |
probably damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,676 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rbm27 |
T |
A |
18: 42,438,737 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,983 (GRCm39) |
E2043G |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,778,443 (GRCm39) |
S341F |
probably damaging |
Het |
| Samd9l |
C |
T |
6: 3,374,946 (GRCm39) |
V772I |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,510,074 (GRCm39) |
M654T |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,686 (GRCm39) |
K407E |
probably damaging |
Het |
| Sipa1l3 |
G |
A |
7: 29,047,743 (GRCm39) |
P333S |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,187,744 (GRCm39) |
R162S |
probably benign |
Het |
| Spryd3 |
A |
T |
15: 102,036,972 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,166 (GRCm39) |
F66L |
probably benign |
Het |
| Tent5c |
T |
C |
3: 100,380,102 (GRCm39) |
D218G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,532 (GRCm39) |
N196S |
probably benign |
Het |
| Themis2 |
C |
A |
4: 132,517,236 (GRCm39) |
R88L |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,736,854 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,528,437 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,892,624 (GRCm39) |
H64Q |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,435,022 (GRCm39) |
R561G |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,117,525 (GRCm39) |
D604G |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,418 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,338,722 (GRCm39) |
N321I |
probably damaging |
Het |
| Zfp595 |
A |
G |
13: 67,468,984 (GRCm39) |
F11S |
possibly damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,139 (GRCm39) |
H271L |
probably damaging |
Het |
|
| Other mutations in Prss36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Prss36
|
APN |
7 |
127,544,099 (GRCm39) |
splice site |
probably benign |
|
|
IGL01473:Prss36
|
APN |
7 |
127,543,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03139:Prss36
|
APN |
7 |
127,532,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Prss36
|
UTSW |
7 |
127,535,027 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1771:Prss36
|
UTSW |
7 |
127,532,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Prss36
|
UTSW |
7 |
127,532,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3935:Prss36
|
UTSW |
7 |
127,533,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4257:Prss36
|
UTSW |
7 |
127,532,010 (GRCm39) |
unclassified |
probably benign |
|
|
R4694:Prss36
|
UTSW |
7 |
127,534,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Prss36
|
UTSW |
7 |
127,535,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Prss36
|
UTSW |
7 |
127,533,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Prss36
|
UTSW |
7 |
127,533,637 (GRCm39) |
nonsense |
probably null |
|
|
R5749:Prss36
|
UTSW |
7 |
127,532,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Prss36
|
UTSW |
7 |
127,532,744 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5992:Prss36
|
UTSW |
7 |
127,544,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Prss36
|
UTSW |
7 |
127,533,739 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6033:Prss36
|
UTSW |
7 |
127,533,739 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6971:Prss36
|
UTSW |
7 |
127,544,410 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7050:Prss36
|
UTSW |
7 |
127,543,937 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7232:Prss36
|
UTSW |
7 |
127,534,763 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7271:Prss36
|
UTSW |
7 |
127,543,877 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8679:Prss36
|
UTSW |
7 |
127,532,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9232:Prss36
|
UTSW |
7 |
127,543,988 (GRCm39) |
missense |
probably benign |
|
|
R9327:Prss36
|
UTSW |
7 |
127,532,570 (GRCm39) |
nonsense |
probably null |
|
|
R9356:Prss36
|
UTSW |
7 |
127,545,697 (GRCm39) |
start gained |
probably benign |
|
|
R9433:Prss36
|
UTSW |
7 |
127,533,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9471:Prss36
|
UTSW |
7 |
127,545,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9577:Prss36
|
UTSW |
7 |
127,533,673 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z1088:Prss36
|
UTSW |
7 |
127,533,709 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Prss36
|
UTSW |
7 |
127,533,005 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCAGGAACTCCTGAAGCCTCAC -3'
(R):5'- ACCAGCACTGGAACTTGGCTTGAAG -3'
Sequencing Primer
(F):5'- TCCTGAAGCCTCACAGACC -3'
(R):5'- CTTGCAGGAAAGGAGAACCA -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation