Incidental Mutation 'R3935:Prss36'
| ID |
307132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss36
|
| Ensembl Gene |
ENSMUSG00000070371 |
| Gene Name |
serine protease 36 |
| Synonyms |
C330007D15Rik, polyserase-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127531810-127545897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127533780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 8
(L8P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032988]
[ENSMUST00000094026]
[ENSMUST00000118755]
[ENSMUST00000141385]
[ENSMUST00000156152]
[ENSMUST00000206568]
[ENSMUST00000206124]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000094026
AA Change: L520P
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: L520P
| 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: L509P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: L509P
| 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 damaging
Transcript: ENSMUST00000141385
AA Change: L8P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371
AA Change: L8P
| 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: L8P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371
AA Change: L8P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Tryp_SPc
|
2 |
44 |
1e-21 |
BLAST |
|
Tryp_SPc
|
89 |
238 |
8.18e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206124
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
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 |
|
R0111:Prss36
|
UTSW |
7 |
127,533,717 (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 |
|
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'- ACCGTGCTCAGTATGTGTGG -3'
(R):5'- GCTTGTCAGTTTGAAGAAAGGG -3'
Sequencing Primer
(F):5'- CTCAGTATGTGTGGGACAAGTC -3'
(R):5'- ATCTCAGAGTTCGAGGACAGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation