Incidental Mutation 'R4620:Tmprss15'
| ID |
345278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
042008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78818358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 524
(D524G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
| AlphaFold |
P97435 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023566
AA Change: D539G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: D539G
| 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 damaging
Transcript: ENSMUST00000060402
AA Change: D524G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: D524G
| 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 |
0.3898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,945,335 (GRCm39) |
Y433* |
probably null |
Het |
| Apba2 |
C |
T |
7: 64,364,215 (GRCm39) |
R331C |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,632 (GRCm39) |
M284L |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
| Blvra |
T |
C |
2: 126,938,885 (GRCm39) |
I287T |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,778,578 (GRCm39) |
Y347C |
probably damaging |
Het |
| Cdcp2 |
A |
G |
4: 106,963,927 (GRCm39) |
E259G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,665 (GRCm39) |
V85A |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,184,943 (GRCm39) |
I1169T |
probably benign |
Het |
| Cenpj |
A |
G |
14: 56,772,911 (GRCm39) |
V1043A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,805,619 (GRCm39) |
H1497L |
probably benign |
Het |
| Chat |
A |
G |
14: 32,175,775 (GRCm39) |
M95T |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,052,694 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,449,149 (GRCm39) |
E3615G |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,701,006 (GRCm39) |
|
probably null |
Het |
| Dll1 |
C |
T |
17: 15,590,828 (GRCm39) |
A332T |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,577,021 (GRCm39) |
Q159L |
probably benign |
Het |
| Dnai3 |
A |
T |
3: 145,748,564 (GRCm39) |
L850Q |
probably damaging |
Het |
| Eci3 |
A |
T |
13: 35,132,741 (GRCm39) |
M212K |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,768,962 (GRCm39) |
F557L |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,908,190 (GRCm39) |
V2604D |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,395,586 (GRCm39) |
V1871A |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
| H2-M3 |
C |
A |
17: 37,583,310 (GRCm39) |
T257K |
probably damaging |
Het |
| Hdgf |
A |
G |
3: 87,821,883 (GRCm39) |
N166S |
possibly damaging |
Het |
| Hoxb3 |
A |
T |
11: 96,236,599 (GRCm39) |
N226Y |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,586,246 (GRCm39) |
Y169H |
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,849,075 (GRCm39) |
I426L |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
| Kif6 |
T |
C |
17: 50,208,324 (GRCm39) |
V735A |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,054,523 (GRCm39) |
A1880T |
possibly damaging |
Het |
| Miox |
A |
T |
15: 89,220,324 (GRCm39) |
Y172F |
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,708,773 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ndufb7 |
T |
C |
8: 84,293,487 (GRCm39) |
S14P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,129,070 (GRCm39) |
H371Q |
probably damaging |
Het |
| Or10d5j |
C |
T |
9: 39,868,205 (GRCm39) |
V9M |
probably damaging |
Het |
| Or52e15 |
T |
A |
7: 104,645,830 (GRCm39) |
I94F |
probably damaging |
Het |
| Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
| Or8b12c |
A |
G |
9: 37,716,115 (GRCm39) |
T303A |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,734,174 (GRCm39) |
D203E |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,245,265 (GRCm39) |
T1518A |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,395,563 (GRCm39) |
D602G |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,750,718 (GRCm39) |
V136I |
possibly damaging |
Het |
| Postn |
A |
C |
3: 54,284,414 (GRCm39) |
D627A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,337 (GRCm39) |
V25A |
probably benign |
Het |
| Pxdc1 |
A |
G |
13: 34,836,297 (GRCm39) |
I41T |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,243 (GRCm39) |
E514V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,474,025 (GRCm39) |
H372Q |
probably damaging |
Het |
| Ranbp1 |
A |
G |
16: 18,057,968 (GRCm39) |
|
probably benign |
Het |
| Rexo5 |
A |
G |
7: 119,426,526 (GRCm39) |
I317V |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,622 (GRCm39) |
Q279R |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,191,129 (GRCm39) |
S187P |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,852,478 (GRCm39) |
C868Y |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,194,838 (GRCm39) |
A722T |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
| Themis2 |
A |
G |
4: 132,513,333 (GRCm39) |
W298R |
probably damaging |
Het |
| Tmem168 |
T |
G |
6: 13,594,952 (GRCm39) |
N37T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,845 (GRCm39) |
|
probably benign |
Het |
| Trav5-4 |
G |
T |
14: 53,941,853 (GRCm39) |
M75I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,233,698 (GRCm39) |
G64E |
probably damaging |
Het |
| Usp32 |
C |
A |
11: 84,949,953 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
T |
5: 102,054,011 (GRCm39) |
F1603Y |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,867,782 (GRCm39) |
L155Q |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zfp780b |
A |
T |
7: 27,662,178 (GRCm39) |
Y792* |
probably null |
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 |
|
R0195:Tmprss15
|
UTSW |
16 |
78,831,222 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- AGGCTTCGTATTTGCTACCAAATC -3'
(R):5'- TGTGATAAGAAAGTGTAGAGCCTC -3'
Sequencing Primer
(F):5'- CTTACTTGGAAGCTCTGGT -3'
(R):5'- AGGAACTTACAATGGGTGATTTATC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation