Incidental Mutation 'R6257:Tmprss15'
| ID |
506429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
044374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78769113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 769
(V769E)
|
| 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: V784E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: V784E
| 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: V769E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: V769E
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
97% (74/76) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,272,074 (GRCm39) |
N313K |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,598,790 (GRCm39) |
Q877L |
probably benign |
Het |
| Adgre4 |
C |
T |
17: 56,109,133 (GRCm39) |
T380I |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,409,791 (GRCm39) |
|
probably null |
Het |
| Atg16l2 |
A |
G |
7: 100,951,102 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
C |
T |
11: 70,116,878 (GRCm39) |
R467H |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,258,580 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,364 (GRCm39) |
D806G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,350,946 (GRCm39) |
D501G |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 62,356,769 (GRCm39) |
T736A |
probably benign |
Het |
| Cd164l2 |
T |
A |
4: 132,948,345 (GRCm39) |
C19S |
unknown |
Het |
| Cdk15 |
G |
A |
1: 59,296,264 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
C |
17: 79,243,261 (GRCm39) |
E131G |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,893,025 (GRCm39) |
D519G |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Chd1 |
T |
G |
17: 15,950,465 (GRCm39) |
|
probably null |
Het |
| Chil4 |
T |
A |
3: 106,111,412 (GRCm39) |
D234V |
possibly damaging |
Het |
| Cldn16 |
T |
A |
16: 26,300,080 (GRCm39) |
S173T |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,703,496 (GRCm39) |
F456I |
probably benign |
Het |
| Cst8 |
C |
A |
2: 148,647,365 (GRCm39) |
A125E |
probably damaging |
Het |
| Dars2 |
G |
T |
1: 160,869,398 (GRCm39) |
P617Q |
probably damaging |
Het |
| Defb26 |
A |
G |
2: 152,349,860 (GRCm39) |
V140A |
unknown |
Het |
| Dntt |
T |
G |
19: 41,041,501 (GRCm39) |
V395G |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,481,413 (GRCm39) |
|
probably benign |
Het |
| Dscam |
T |
C |
16: 96,474,914 (GRCm39) |
N1216S |
possibly damaging |
Het |
| En1 |
A |
T |
1: 120,531,636 (GRCm39) |
D292V |
unknown |
Het |
| Erbb4 |
A |
T |
1: 68,435,432 (GRCm39) |
L155Q |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,998,796 (GRCm39) |
T197A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,407 (GRCm39) |
F3602L |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,617,177 (GRCm39) |
C365S |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,533,075 (GRCm39) |
D13V |
unknown |
Het |
| Gm6401 |
T |
C |
14: 41,789,828 (GRCm39) |
Q10R |
probably benign |
Het |
| Gmcl1 |
G |
A |
6: 86,677,623 (GRCm39) |
T410I |
possibly damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| H2-T24 |
T |
A |
17: 36,325,574 (GRCm39) |
T305S |
probably benign |
Het |
| Ksr2 |
A |
T |
5: 117,552,909 (GRCm39) |
M6L |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,862,895 (GRCm39) |
L2956S |
possibly damaging |
Het |
| Lhfpl3 |
A |
G |
5: 22,951,557 (GRCm39) |
T123A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,486,981 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
G |
A |
16: 87,208,662 (GRCm39) |
A812V |
possibly damaging |
Het |
| Maml2 |
C |
T |
9: 13,531,722 (GRCm39) |
S312L |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,146,468 (GRCm39) |
N106Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,950,420 (GRCm39) |
C439S |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,570,173 (GRCm39) |
I224T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,440,317 (GRCm39) |
L2303F |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,784,349 (GRCm39) |
|
probably null |
Het |
| Nup155 |
C |
T |
15: 8,180,282 (GRCm39) |
R1120* |
probably null |
Het |
| Oas3 |
C |
A |
5: 120,899,200 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,017 (GRCm39) |
I159V |
probably benign |
Het |
| Or1p1c |
T |
C |
11: 74,160,833 (GRCm39) |
V206A |
probably damaging |
Het |
| Or2t45 |
T |
A |
11: 58,669,829 (GRCm39) |
V292E |
probably damaging |
Het |
| Os9 |
A |
C |
10: 126,955,006 (GRCm39) |
C181G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,437 (GRCm39) |
R1256Q |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,892,195 (GRCm39) |
T208I |
probably benign |
Het |
| Plppr4 |
T |
C |
3: 117,116,228 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Prkcb |
T |
A |
7: 122,167,386 (GRCm39) |
D365E |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,959,639 (GRCm39) |
N45K |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,842,306 (GRCm39) |
L987P |
probably damaging |
Het |
| Runx1 |
T |
A |
16: 92,492,799 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,481,175 (GRCm39) |
Q372K |
probably benign |
Het |
| Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Sri |
T |
A |
5: 8,109,596 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
C |
T |
4: 117,964,875 (GRCm39) |
|
probably benign |
Het |
| Tfpt |
A |
T |
7: 3,632,566 (GRCm39) |
L3* |
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,124,615 (GRCm39) |
D31G |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,408,987 (GRCm39) |
C678* |
probably null |
Het |
| Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
| Tmem17 |
A |
G |
11: 22,462,297 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,275,821 (GRCm39) |
R175C |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,196,290 (GRCm39) |
V41F |
possibly damaging |
Het |
| Trim30c |
T |
C |
7: 104,039,375 (GRCm39) |
Y140C |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,699,835 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
A |
12: 102,732,099 (GRCm39) |
C158* |
probably null |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,778 (GRCm39) |
L392F |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,830 (GRCm39) |
D925V |
probably 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 |
|
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'- ACCCATATGTTTGTTGACATTACAC -3'
(R):5'- CAAACGTGTACTAAAGGCTTTCCC -3'
Sequencing Primer
(F):5'- GTGGCACTGACACATTAATGGCTC -3'
(R):5'- ATACAATAGATCCTGCCCAGTTTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation