Incidental Mutation 'R0195:Tmprss15'
ID |
23398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss15
|
Ensembl Gene |
ENSMUSG00000022857 |
Gene Name |
transmembrane protease, serine 15 |
Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
MMRRC Submission |
038454-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0195 (G1)
|
Quality Score |
187 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78831222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 393
(T393S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
AlphaFold |
P97435 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023566
AA Change: T393S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000023566 Gene: ENSMUSG00000022857 AA Change: T393S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
SEA
|
52 |
172 |
1.62e-22 |
SMART |
LDLa
|
228 |
268 |
1.74e-4 |
SMART |
CUB
|
270 |
379 |
1.54e-11 |
SMART |
MAM
|
387 |
549 |
7.33e-54 |
SMART |
low complexity region
|
551 |
567 |
N/A |
INTRINSIC |
CUB
|
569 |
679 |
1.72e-32 |
SMART |
LDLa
|
687 |
724 |
7.32e-12 |
SMART |
SR
|
723 |
813 |
3.12e-5 |
SMART |
Tryp_SPc
|
829 |
1064 |
1.48e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060402
AA Change: T378S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000052034 Gene: ENSMUSG00000022857 AA Change: T378S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
SEA
|
52 |
172 |
1.62e-22 |
SMART |
LDLa
|
213 |
253 |
1.74e-4 |
SMART |
CUB
|
255 |
364 |
1.54e-11 |
SMART |
MAM
|
372 |
534 |
7.33e-54 |
SMART |
low complexity region
|
536 |
552 |
N/A |
INTRINSIC |
CUB
|
554 |
664 |
1.72e-32 |
SMART |
LDLa
|
672 |
709 |
7.32e-12 |
SMART |
SR
|
708 |
798 |
3.12e-5 |
SMART |
Tryp_SPc
|
814 |
1049 |
1.48e-95 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.4%
|
Validation Efficiency |
98% (156/160) |
MGI Phenotype |
FUNCTION: This gene encodes an enzyme that proteolytically activates the pancreatic proenzyme trypsinogen, converting it into trypsin. The encoded protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
C |
G |
11: 100,403,800 (GRCm39) |
R362P |
possibly damaging |
Het |
Adam24 |
T |
A |
8: 41,134,805 (GRCm39) |
W758R |
probably benign |
Het |
Adam26b |
G |
T |
8: 43,973,307 (GRCm39) |
T565K |
probably damaging |
Het |
Adam7 |
T |
G |
14: 68,765,076 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,102,942 (GRCm39) |
|
probably benign |
Het |
Add1 |
A |
G |
5: 34,767,990 (GRCm39) |
|
probably benign |
Het |
Ago1 |
A |
G |
4: 126,357,484 (GRCm39) |
C64R |
probably benign |
Het |
Ankrd12 |
C |
T |
17: 66,356,943 (GRCm39) |
|
probably null |
Het |
Arhgef33 |
A |
G |
17: 80,688,863 (GRCm39) |
K820E |
probably damaging |
Het |
Arl9 |
T |
C |
5: 77,154,341 (GRCm39) |
V8A |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,406,873 (GRCm39) |
L1920P |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,963,350 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,770,835 (GRCm39) |
V358E |
probably benign |
Het |
C3ar1 |
A |
C |
6: 122,828,114 (GRCm39) |
C34W |
possibly damaging |
Het |
C6 |
G |
A |
15: 4,792,953 (GRCm39) |
V353M |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,087,538 (GRCm39) |
I593T |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,712,319 (GRCm39) |
D119E |
probably damaging |
Het |
Ccna1 |
T |
A |
3: 54,961,785 (GRCm39) |
E45V |
probably damaging |
Het |
Cdc37 |
A |
G |
9: 21,053,576 (GRCm39) |
V180A |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,152,838 (GRCm39) |
I2393T |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,280,975 (GRCm39) |
M15L |
probably benign |
Het |
Crygn |
A |
G |
5: 24,961,036 (GRCm39) |
M90T |
possibly damaging |
Het |
Cse1l |
T |
A |
2: 166,782,008 (GRCm39) |
S661R |
probably benign |
Het |
D830013O20Rik |
C |
T |
12: 73,411,095 (GRCm39) |
|
noncoding transcript |
Het |
Ddx24 |
C |
T |
12: 103,385,220 (GRCm39) |
|
probably null |
Het |
Dnah3 |
A |
T |
7: 119,676,998 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
Dnttip2 |
A |
T |
3: 122,069,810 (GRCm39) |
T342S |
probably benign |
Het |
Evx2 |
G |
T |
2: 74,489,388 (GRCm39) |
R125S |
probably damaging |
Het |
Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
Git1 |
T |
A |
11: 77,391,899 (GRCm39) |
D240E |
probably benign |
Het |
Glp2r |
T |
A |
11: 67,600,534 (GRCm39) |
K438N |
probably damaging |
Het |
Hivep1 |
T |
A |
13: 42,309,629 (GRCm39) |
I623N |
probably benign |
Het |
Il17re |
A |
G |
6: 113,443,098 (GRCm39) |
E312G |
probably damaging |
Het |
Itgb7 |
G |
A |
15: 102,130,618 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,088 (GRCm39) |
Y1900C |
probably damaging |
Het |
Krt1c |
G |
A |
15: 101,721,626 (GRCm39) |
Q472* |
probably null |
Het |
Krtap5-1 |
A |
C |
7: 141,850,434 (GRCm39) |
C125G |
unknown |
Het |
Macf1 |
A |
G |
4: 123,328,709 (GRCm39) |
S2554P |
probably damaging |
Het |
Marchf10 |
C |
T |
11: 105,276,351 (GRCm39) |
G646R |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,195,560 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
T |
8: 10,365,538 (GRCm39) |
|
probably benign |
Het |
Nrcam |
A |
T |
12: 44,631,628 (GRCm39) |
E1060D |
probably benign |
Het |
Nsd3 |
T |
A |
8: 26,170,709 (GRCm39) |
C731S |
probably damaging |
Het |
Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
Nxnl2 |
G |
T |
13: 51,325,483 (GRCm39) |
R42L |
probably damaging |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
Orc1 |
C |
T |
4: 108,471,505 (GRCm39) |
R786* |
probably null |
Het |
P2ry6 |
A |
T |
7: 100,587,904 (GRCm39) |
W152R |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,047,102 (GRCm39) |
N283D |
possibly damaging |
Het |
Pgk2 |
T |
C |
17: 40,518,622 (GRCm39) |
I269V |
probably benign |
Het |
Phgdh |
T |
G |
3: 98,223,866 (GRCm39) |
|
probably benign |
Het |
Pzp |
A |
T |
6: 128,464,441 (GRCm39) |
L1362Q |
probably damaging |
Het |
Rbbp9 |
T |
C |
2: 144,390,026 (GRCm39) |
|
probably benign |
Het |
Rffl |
A |
G |
11: 82,700,989 (GRCm39) |
L244P |
probably damaging |
Het |
Serpina11 |
T |
C |
12: 103,952,131 (GRCm39) |
Y213C |
probably damaging |
Het |
Spopfm1 |
A |
G |
3: 94,173,229 (GRCm39) |
Y79C |
possibly damaging |
Het |
Srsf11 |
A |
G |
3: 157,742,172 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
A |
6: 48,463,570 (GRCm39) |
V3785E |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,089,514 (GRCm39) |
S1632T |
possibly damaging |
Het |
Tm4sf1 |
T |
A |
3: 57,200,480 (GRCm39) |
D74V |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,881,461 (GRCm39) |
L275P |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,031,636 (GRCm39) |
V393A |
probably benign |
Het |
Tssk2 |
T |
A |
16: 17,717,439 (GRCm39) |
S281T |
probably benign |
Het |
Tubb4a |
A |
G |
17: 57,388,499 (GRCm39) |
S176P |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,828,654 (GRCm39) |
M785K |
probably damaging |
Het |
Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
Vmn1r176 |
G |
T |
7: 23,535,010 (GRCm39) |
Q48K |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,794,317 (GRCm39) |
L784Q |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,472,045 (GRCm39) |
T783A |
probably benign |
Het |
Zfp800 |
A |
G |
6: 28,243,846 (GRCm39) |
M373T |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,941,704 (GRCm39) |
F895L |
possibly damaging |
Het |
|
Other mutations in Tmprss15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Tmprss15
|
APN |
16 |
78,782,882 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL00477:Tmprss15
|
APN |
16 |
78,818,301 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01583:Tmprss15
|
APN |
16 |
78,868,149 (GRCm39) |
missense |
probably benign |
|
IGL01896:Tmprss15
|
APN |
16 |
78,887,678 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02052:Tmprss15
|
APN |
16 |
78,884,394 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02374:Tmprss15
|
APN |
16 |
78,832,056 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02505:Tmprss15
|
APN |
16 |
78,784,629 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02632:Tmprss15
|
APN |
16 |
78,782,790 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02674:Tmprss15
|
APN |
16 |
78,798,682 (GRCm39) |
missense |
possibly damaging |
0.72 |
beached
|
UTSW |
16 |
78,821,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
Cellulite
|
UTSW |
16 |
78,754,259 (GRCm39) |
missense |
probably damaging |
1.00 |
lolling
|
UTSW |
16 |
78,800,298 (GRCm39) |
missense |
probably benign |
0.26 |
miniature
|
UTSW |
16 |
78,854,497 (GRCm39) |
critical splice donor site |
probably null |
|
PIT1430001:Tmprss15
|
UTSW |
16 |
78,821,640 (GRCm39) |
critical splice donor site |
probably null |
|
R0106:Tmprss15
|
UTSW |
16 |
78,800,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R0106:Tmprss15
|
UTSW |
16 |
78,800,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R0335:Tmprss15
|
UTSW |
16 |
78,821,630 (GRCm39) |
splice site |
probably benign |
|
R0514:Tmprss15
|
UTSW |
16 |
78,765,155 (GRCm39) |
missense |
probably benign |
0.05 |
R0552:Tmprss15
|
UTSW |
16 |
78,821,637 (GRCm39) |
splice site |
probably null |
|
R0675:Tmprss15
|
UTSW |
16 |
78,782,838 (GRCm39) |
missense |
probably damaging |
0.98 |
R0739:Tmprss15
|
UTSW |
16 |
78,821,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1435:Tmprss15
|
UTSW |
16 |
78,818,342 (GRCm39) |
missense |
probably benign |
0.03 |
R1446:Tmprss15
|
UTSW |
16 |
78,875,846 (GRCm39) |
missense |
probably benign |
0.01 |
R1572:Tmprss15
|
UTSW |
16 |
78,887,717 (GRCm39) |
missense |
probably benign |
0.00 |
R1708:Tmprss15
|
UTSW |
16 |
78,850,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1893:Tmprss15
|
UTSW |
16 |
78,868,306 (GRCm39) |
missense |
probably benign |
|
R2403:Tmprss15
|
UTSW |
16 |
78,854,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2866:Tmprss15
|
UTSW |
16 |
78,832,121 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2913:Tmprss15
|
UTSW |
16 |
78,759,078 (GRCm39) |
missense |
probably benign |
0.45 |
R2914:Tmprss15
|
UTSW |
16 |
78,759,078 (GRCm39) |
missense |
probably benign |
0.45 |
R3425:Tmprss15
|
UTSW |
16 |
78,800,321 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3703:Tmprss15
|
UTSW |
16 |
78,851,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3916:Tmprss15
|
UTSW |
16 |
78,782,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R3950:Tmprss15
|
UTSW |
16 |
78,870,074 (GRCm39) |
missense |
probably benign |
0.04 |
R4332:Tmprss15
|
UTSW |
16 |
78,831,222 (GRCm39) |
missense |
probably benign |
0.15 |
R4392:Tmprss15
|
UTSW |
16 |
78,821,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Tmprss15
|
UTSW |
16 |
78,754,244 (GRCm39) |
missense |
probably benign |
0.00 |
R4619:Tmprss15
|
UTSW |
16 |
78,818,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R4620:Tmprss15
|
UTSW |
16 |
78,818,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R4754:Tmprss15
|
UTSW |
16 |
78,851,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R4853:Tmprss15
|
UTSW |
16 |
78,757,479 (GRCm39) |
missense |
probably benign |
|
R5159:Tmprss15
|
UTSW |
16 |
78,800,298 (GRCm39) |
missense |
probably benign |
0.26 |
R5441:Tmprss15
|
UTSW |
16 |
78,868,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5824:Tmprss15
|
UTSW |
16 |
78,831,201 (GRCm39) |
missense |
probably damaging |
0.99 |
R5970:Tmprss15
|
UTSW |
16 |
78,854,547 (GRCm39) |
missense |
probably benign |
0.00 |
R6224:Tmprss15
|
UTSW |
16 |
78,821,266 (GRCm39) |
missense |
probably benign |
0.08 |
R6257:Tmprss15
|
UTSW |
16 |
78,769,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R6313:Tmprss15
|
UTSW |
16 |
78,759,058 (GRCm39) |
missense |
probably benign |
0.16 |
R6368:Tmprss15
|
UTSW |
16 |
78,802,945 (GRCm39) |
splice site |
probably null |
|
R6525:Tmprss15
|
UTSW |
16 |
78,800,266 (GRCm39) |
missense |
probably damaging |
0.97 |
R6587:Tmprss15
|
UTSW |
16 |
78,868,317 (GRCm39) |
missense |
probably benign |
|
R6894:Tmprss15
|
UTSW |
16 |
78,872,702 (GRCm39) |
nonsense |
probably null |
|
R7018:Tmprss15
|
UTSW |
16 |
78,821,741 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7180:Tmprss15
|
UTSW |
16 |
78,764,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R7324:Tmprss15
|
UTSW |
16 |
78,758,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R7337:Tmprss15
|
UTSW |
16 |
78,868,164 (GRCm39) |
missense |
probably benign |
0.01 |
R7558:Tmprss15
|
UTSW |
16 |
78,800,302 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7732:Tmprss15
|
UTSW |
16 |
78,800,308 (GRCm39) |
missense |
probably benign |
0.11 |
R7792:Tmprss15
|
UTSW |
16 |
78,800,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R7829:Tmprss15
|
UTSW |
16 |
78,784,538 (GRCm39) |
missense |
probably benign |
0.02 |
R7998:Tmprss15
|
UTSW |
16 |
78,798,731 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8009:Tmprss15
|
UTSW |
16 |
78,887,751 (GRCm39) |
missense |
probably damaging |
0.96 |
R8145:Tmprss15
|
UTSW |
16 |
78,757,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Tmprss15
|
UTSW |
16 |
78,884,400 (GRCm39) |
missense |
probably benign |
0.04 |
R8221:Tmprss15
|
UTSW |
16 |
78,821,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R8294:Tmprss15
|
UTSW |
16 |
78,868,176 (GRCm39) |
missense |
probably benign |
|
R8537:Tmprss15
|
UTSW |
16 |
78,884,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R8735:Tmprss15
|
UTSW |
16 |
78,798,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8858:Tmprss15
|
UTSW |
16 |
78,854,497 (GRCm39) |
critical splice donor site |
probably null |
|
R8869:Tmprss15
|
UTSW |
16 |
78,750,834 (GRCm39) |
nonsense |
probably null |
|
R8884:Tmprss15
|
UTSW |
16 |
78,821,657 (GRCm39) |
missense |
probably benign |
0.00 |
R9014:Tmprss15
|
UTSW |
16 |
78,872,691 (GRCm39) |
missense |
probably benign |
0.04 |
R9075:Tmprss15
|
UTSW |
16 |
78,754,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R9351:Tmprss15
|
UTSW |
16 |
78,832,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R9393:Tmprss15
|
UTSW |
16 |
78,754,211 (GRCm39) |
missense |
probably benign |
0.01 |
R9747:Tmprss15
|
UTSW |
16 |
78,884,400 (GRCm39) |
missense |
probably benign |
0.04 |
R9767:Tmprss15
|
UTSW |
16 |
78,875,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R9783:Tmprss15
|
UTSW |
16 |
78,887,890 (GRCm39) |
start gained |
probably benign |
|
RF005:Tmprss15
|
UTSW |
16 |
78,750,689 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCACAGCTTTCTCTTGCAATAAATG -3'
(R):5'- GTGGGTAAACAGTACAATCAGCATGGAA -3'
Sequencing Primer
(F):5'- tctgtgtgcttatgatgaacaac -3'
(R):5'- GCAAGCAATCACATGCTATAAAGCT -3'
|
Posted On |
2013-04-16 |