Incidental Mutation 'R4392:Tmprss15'
| ID |
371116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78821326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 457
(Y457H)
|
| 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: Y472H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: Y472H
| 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: Y457H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: Y457H
| 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 |
0.4453 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,822,435 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,259,034 (GRCm39) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,056,724 (GRCm39) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,518,169 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,758,335 (GRCm39) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,701,749 (GRCm39) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,168,064 (GRCm39) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,277,479 (GRCm39) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,842,179 (GRCm39) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,330,427 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,569,770 (GRCm39) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,700 (GRCm39) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,059,917 (GRCm39) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,375 (GRCm39) |
R1188H |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,196 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 101,995,076 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
G |
11: 30,893,697 (GRCm39) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,350,968 (GRCm39) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,870,382 (GRCm39) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,844,191 (GRCm39) |
S280P |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,068,002 (GRCm39) |
F467S |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,477,204 (GRCm39) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,289,483 (GRCm39) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ift56 |
A |
G |
6: 38,358,492 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,585,880 (GRCm39) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,069,630 (GRCm39) |
T413A |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mmrn2 |
T |
A |
14: 34,119,573 (GRCm39) |
L184H |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,187,311 (GRCm39) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,707 (GRCm39) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm39) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,290,284 (GRCm39) |
Q212P |
probably damaging |
Het |
| Or4f7d-ps1 |
T |
C |
2: 111,674,690 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k15c |
A |
G |
14: 50,322,060 (GRCm39) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 45,934,548 (GRCm39) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,248,334 (GRCm39) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,670,490 (GRCm39) |
C25S |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,189,655 (GRCm39) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,765,399 (GRCm39) |
E557V |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,762 (GRCm39) |
P511L |
probably null |
Het |
| Sgpl1 |
A |
G |
10: 60,940,231 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 81,014,578 (GRCm39) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,117,896 (GRCm39) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,198 (GRCm39) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 122,895,817 (GRCm39) |
T631I |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,637,429 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,690,458 (GRCm39) |
W207R |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Usp2 |
A |
T |
9: 44,002,556 (GRCm39) |
H384L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,135 (GRCm39) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,739,461 (GRCm39) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,741,860 (GRCm39) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,707 (GRCm39) |
C419* |
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 |
|
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'- CATGAGTGGACTGCAAATTATTCC -3'
(R):5'- GGAAGCAGGCTCATATTTCAC -3'
Sequencing Primer
(F):5'- GGAAAGAAAGTTACTAGCTTTTCTCC -3'
(R):5'- GGCTCATATTTCACTATGATTTTGGC -3'
|
| Posted On |
2016-02-19 |
Incidental Mutation