Incidental Mutation 'R6033:Prss36'
ID |
486388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss36
|
Ensembl Gene |
ENSMUSG00000070371 |
Gene Name |
serine protease 36 |
Synonyms |
C330007D15Rik, polyserase-2 |
MMRRC Submission |
044205-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6033 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127531810-127545897 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127533739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 22
(R22G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121706
(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 benign
Transcript: ENSMUST00000094026
AA Change: R534G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000091565 Gene: ENSMUSG00000070371 AA Change: R534G
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 benign
Transcript: ENSMUST00000118755
AA Change: R523G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000112659 Gene: ENSMUSG00000070371 AA Change: R523G
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: R22G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000120544 Gene: ENSMUSG00000070371 AA Change: R22G
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 |
probably benign
Transcript: ENSMUST00000156152
AA Change: R22G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000121706 Gene: ENSMUSG00000070371 AA Change: R22G
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 |
noncoding transcript
Transcript: ENSMUST00000152697
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206568
|
Meta Mutation Damage Score |
0.5850 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
T |
A |
8: 84,645,551 (GRCm39) |
V58E |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
Gm21972 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
Gm6712 |
T |
A |
17: 17,514,678 (GRCm39) |
|
noncoding transcript |
Het |
Grb7 |
C |
T |
11: 98,346,023 (GRCm39) |
|
probably null |
Het |
Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
Ica1 |
T |
A |
6: 8,630,799 (GRCm39) |
|
probably null |
Het |
Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
Ncan |
T |
C |
8: 70,565,240 (GRCm39) |
D229G |
probably damaging |
Het |
Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
Npas2 |
T |
C |
1: 39,377,261 (GRCm39) |
V541A |
probably damaging |
Het |
Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
Prkd2 |
C |
T |
7: 16,599,639 (GRCm39) |
R701C |
probably damaging |
Het |
Prr3 |
A |
T |
17: 36,289,516 (GRCm39) |
|
probably null |
Het |
Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
probably benign |
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 |
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 |
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'- GCCAGGACCTAAGAATTACCAGG -3'
(R):5'- ACTGGAACTTGGCTTGAAGGG -3'
Sequencing Primer
(F):5'- TCACCACCGTGCTCAGTATGTG -3'
(R):5'- CTTGAAGGGTTCTTGCAGGAAAG -3'
|
Posted On |
2017-08-16 |