Incidental Mutation 'R7829:Tmprss15'
ID |
602349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss15
|
Ensembl Gene |
ENSMUSG00000022857 |
Gene Name |
transmembrane protease, serine 15 |
Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
MMRRC Submission |
045883-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7829 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78784538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 706
(S706G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
AlphaFold |
P97435 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023566
AA Change: S721G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000023566 Gene: ENSMUSG00000022857 AA Change: S721G
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: S706G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000052034 Gene: ENSMUSG00000022857 AA Change: S706G
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: 99.1%
|
Validation Efficiency |
97% (61/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
G |
11: 58,770,823 (GRCm39) |
L102V |
not run |
Het |
Abca12 |
A |
T |
1: 71,331,580 (GRCm39) |
S1323R |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,748,623 (GRCm39) |
I318N |
probably benign |
Het |
Adam10 |
A |
T |
9: 70,674,209 (GRCm39) |
K524* |
probably null |
Het |
Adamts3 |
C |
T |
5: 90,009,349 (GRCm39) |
G105R |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,042,387 (GRCm39) |
I418T |
probably damaging |
Het |
Alg9 |
T |
A |
9: 50,699,471 (GRCm39) |
F165L |
probably damaging |
Het |
Anapc2 |
G |
T |
2: 25,167,753 (GRCm39) |
R440L |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,526,052 (GRCm39) |
H1876Q |
probably benign |
Het |
Armc2 |
G |
A |
10: 41,802,856 (GRCm39) |
R606C |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,281,738 (GRCm39) |
S14P |
probably benign |
Het |
Cfap74 |
T |
C |
4: 155,513,694 (GRCm39) |
V502A |
|
Het |
Copb2 |
T |
C |
9: 98,470,147 (GRCm39) |
I891T |
probably damaging |
Het |
Creb3 |
T |
C |
4: 43,566,322 (GRCm39) |
L276P |
probably damaging |
Het |
Crnkl1 |
T |
A |
2: 145,773,269 (GRCm39) |
M126L |
probably benign |
Het |
Csrp2 |
C |
T |
10: 110,771,045 (GRCm39) |
A50V |
probably damaging |
Het |
Ctsd |
A |
G |
7: 141,930,879 (GRCm39) |
C284R |
probably damaging |
Het |
Dll3 |
G |
A |
7: 27,994,075 (GRCm39) |
A454V |
probably damaging |
Het |
Dmbx1 |
C |
T |
4: 115,781,104 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
C |
A |
6: 73,104,902 (GRCm39) |
E1896* |
probably null |
Het |
Dtwd1 |
A |
G |
2: 126,006,679 (GRCm39) |
T234A |
probably damaging |
Het |
Fhod3 |
G |
A |
18: 25,248,947 (GRCm39) |
|
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,463 (GRCm39) |
|
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,742,297 (GRCm39) |
I495T |
probably damaging |
Het |
Grhl3 |
T |
C |
4: 135,288,532 (GRCm39) |
N51S |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,035,366 (GRCm39) |
|
probably null |
Het |
Hsd17b14 |
A |
C |
7: 45,216,209 (GRCm39) |
S260R |
probably benign |
Het |
Insig2 |
A |
T |
1: 121,235,058 (GRCm39) |
|
probably null |
Het |
Itgae |
T |
A |
11: 73,029,618 (GRCm39) |
V1046D |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,305,447 (GRCm39) |
|
probably null |
Het |
Kmo |
A |
G |
1: 175,478,225 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,496,483 (GRCm39) |
N29S |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,793,460 (GRCm39) |
C2484* |
probably null |
Het |
Lrrc23 |
T |
A |
6: 124,747,711 (GRCm39) |
M293L |
probably benign |
Het |
Mphosph6 |
T |
C |
8: 118,525,807 (GRCm39) |
D47G |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nlrc5 |
T |
C |
8: 95,248,397 (GRCm39) |
S1711P |
probably damaging |
Het |
Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
Or1o2 |
T |
C |
17: 37,543,201 (GRCm39) |
E20G |
probably benign |
Het |
Or6k2 |
A |
T |
1: 173,986,425 (GRCm39) |
I29F |
probably benign |
Het |
Osbpl6 |
G |
A |
2: 76,423,731 (GRCm39) |
A857T |
probably damaging |
Het |
Oscp1 |
C |
A |
4: 125,982,201 (GRCm39) |
D380E |
probably benign |
Het |
Pdzd7 |
C |
A |
19: 45,027,678 (GRCm39) |
R265S |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,246,947 (GRCm39) |
|
probably null |
Het |
Pigc |
G |
A |
1: 161,798,033 (GRCm39) |
R5H |
probably benign |
Het |
Pla2g5 |
C |
A |
4: 138,531,845 (GRCm39) |
R53L |
probably benign |
Het |
Rbm6 |
T |
C |
9: 107,729,905 (GRCm39) |
R248G |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,095,526 (GRCm39) |
L877Q |
probably damaging |
Het |
Rpap3 |
A |
T |
15: 97,579,589 (GRCm39) |
N474K |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,842,493 (GRCm39) |
E468V |
possibly damaging |
Het |
Samd9l |
A |
C |
6: 3,374,749 (GRCm39) |
D837E |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,178,727 (GRCm39) |
N1124S |
probably damaging |
Het |
Slc11a2 |
G |
A |
15: 100,307,142 (GRCm39) |
A83V |
possibly damaging |
Het |
Slfn14 |
A |
G |
11: 83,172,643 (GRCm39) |
|
probably null |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,252,226 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
C |
10: 5,292,293 (GRCm39) |
V1325G |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,296 (GRCm39) |
Y389H |
probably damaging |
Het |
Trappc10 |
T |
C |
10: 78,034,909 (GRCm39) |
T946A |
probably benign |
Het |
Ubqln1 |
C |
T |
13: 58,325,719 (GRCm39) |
E546K |
probably damaging |
Het |
Zfp106 |
A |
G |
2: 120,354,538 (GRCm39) |
V1411A |
possibly damaging |
Het |
Zkscan5 |
A |
T |
5: 145,155,513 (GRCm39) |
K395* |
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 |
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 |
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'- GTAACATAAACAAACCAGAGGTCTG -3'
(R):5'- GGCTGTTTCTGACGCAATC -3'
Sequencing Primer
(F):5'- GGAGAGCCATTCACATTC -3'
(R):5'- TCTGACGCAATCTGGGTAAG -3'
|
Posted On |
2019-12-03 |