Incidental Mutation 'R7998:Tmprss15'
| ID |
616224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
046038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78798731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 650
(L650F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
| AlphaFold |
P97435 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023566
AA Change: L650F
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: L650F
| 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: L635F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: L635F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,649 (GRCm39) |
R216C |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,671,988 (GRCm39) |
P294L |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,059,663 (GRCm39) |
Y572H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,959 (GRCm39) |
D1236G |
probably damaging |
Het |
| Astl |
T |
C |
2: 127,192,419 (GRCm39) |
L254P |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,499 (GRCm39) |
L562R |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,250 (GRCm39) |
V1195A |
probably benign |
Het |
| Ciao2b |
T |
A |
8: 105,367,668 (GRCm39) |
S94C |
probably damaging |
Het |
| Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,753,751 (GRCm39) |
Q403P |
probably damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,328 (GRCm39) |
F1079Y |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,167,720 (GRCm39) |
Q724H |
possibly damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,265,766 (GRCm39) |
V351A |
probably damaging |
Het |
| G2e3 |
A |
T |
12: 51,400,624 (GRCm39) |
E59D |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm10837 |
G |
T |
14: 122,728,053 (GRCm39) |
|
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr18 |
T |
C |
14: 122,149,393 (GRCm39) |
I211V |
probably benign |
Het |
| Gstm7 |
T |
A |
3: 107,837,657 (GRCm39) |
D98V |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,715,810 (GRCm39) |
Y525C |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,770,020 (GRCm39) |
S55P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,394,909 (GRCm39) |
V1674A |
possibly damaging |
Het |
| Itsn1 |
G |
T |
16: 91,647,824 (GRCm39) |
G893C |
unknown |
Het |
| Kcnc1 |
A |
G |
7: 46,047,223 (GRCm39) |
D41G |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,631,638 (GRCm39) |
K137E |
probably damaging |
Het |
| Leo1 |
G |
T |
9: 75,352,558 (GRCm39) |
G34C |
probably benign |
Het |
| Map4 |
G |
A |
9: 109,908,929 (GRCm39) |
V1050M |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,214 (GRCm39) |
V722A |
probably benign |
Het |
| Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,812 (GRCm39) |
F512S |
probably benign |
Het |
| Mix23 |
T |
A |
16: 35,905,403 (GRCm39) |
V65D |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,937,642 (GRCm39) |
V1147E |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,568,478 (GRCm39) |
E409G |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,551,188 (GRCm39) |
P5035Q |
probably benign |
Het |
| Nemp1 |
C |
A |
10: 127,529,358 (GRCm39) |
S213R |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,731,149 (GRCm39) |
Y360H |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,559,905 (GRCm39) |
V1221A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,899 (GRCm39) |
F765L |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,983 (GRCm39) |
L991P |
probably damaging |
Het |
| Or13f5 |
A |
T |
4: 52,825,970 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,633 (GRCm39) |
M80L |
probably benign |
Het |
| Pla2g7 |
A |
T |
17: 43,922,209 (GRCm39) |
I363L |
probably benign |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,901 (GRCm39) |
F473S |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,428,965 (GRCm39) |
|
probably null |
Het |
| Ptov1 |
A |
G |
7: 44,514,353 (GRCm39) |
V263A |
probably damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,132 (GRCm39) |
V21A |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,750,764 (GRCm39) |
I550F |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,061,085 (GRCm39) |
W1133R |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,324,839 (GRCm39) |
L137P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,134,632 (GRCm39) |
V1297A |
probably damaging |
Het |
| Themis2 |
A |
G |
4: 132,519,875 (GRCm39) |
I50T |
probably damaging |
Het |
| Ttc41 |
C |
A |
10: 86,572,711 (GRCm39) |
N694K |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,833,546 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,733,653 (GRCm39) |
V4541L |
unknown |
Het |
| Usp32 |
G |
T |
11: 84,885,252 (GRCm39) |
A1265E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,446 (GRCm39) |
D838V |
probably damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,565 (GRCm39) |
I293T |
|
Het |
| Wdr36 |
T |
G |
18: 32,985,572 (GRCm39) |
D496E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,782,671 (GRCm39) |
N753S |
probably benign |
Het |
| Zmat3 |
T |
C |
3: 32,395,815 (GRCm39) |
R231G |
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 |
|
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 |
|
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 |
|
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'- AGCATCTCAGAATGCAGACAG -3'
(R):5'- AGCAAGACTTGGGGAACATTTC -3'
Sequencing Primer
(F):5'- TGCAGACAGATACATTGTGACTTGG -3'
(R):5'- CAAGACTTGGGGAACATTTCATCTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation