Incidental Mutation 'R6894:Tmprss15'
| ID |
538261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
044988-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6894 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 78872702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 168
(L168*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
| AlphaFold |
P97435 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023566
AA Change: L168*
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: L168*
| 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 null
Transcript: ENSMUST00000060402
AA Change: L168*
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: L168*
| 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: 99.2%
- 20x: 97.5%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
C |
A |
2: 151,315,227 (GRCm39) |
L150F |
probably damaging |
Het |
| 4930449I24Rik |
G |
A |
5: 146,441,542 (GRCm39) |
E230K |
possibly damaging |
Het |
| 4930449I24Rik |
A |
T |
5: 146,441,543 (GRCm39) |
E230V |
probably benign |
Het |
| 9430038I01Rik |
A |
G |
7: 136,989,117 (GRCm39) |
C93R |
possibly damaging |
Het |
| Aoc1l2 |
G |
A |
6: 48,907,596 (GRCm39) |
A199T |
probably damaging |
Het |
| Apobec1 |
T |
C |
6: 122,568,201 (GRCm39) |
|
probably benign |
Het |
| Arl4c |
T |
A |
1: 88,629,097 (GRCm39) |
D97V |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,890,298 (GRCm39) |
T726A |
probably benign |
Het |
| Asz1 |
A |
C |
6: 18,055,520 (GRCm39) |
F359V |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,809,250 (GRCm39) |
L1970H |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,959,450 (GRCm39) |
A1322S |
possibly damaging |
Het |
| Cd209e |
T |
A |
8: 3,903,569 (GRCm39) |
I37F |
possibly damaging |
Het |
| Cd209f |
T |
C |
8: 4,155,477 (GRCm39) |
K37R |
probably benign |
Het |
| Cd5 |
G |
C |
19: 10,716,203 (GRCm39) |
S3C |
possibly damaging |
Het |
| Clec16a |
A |
T |
16: 10,462,718 (GRCm39) |
I260F |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,603,428 (GRCm39) |
Y799* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,216,852 (GRCm39) |
L690P |
probably damaging |
Het |
| Csde1 |
G |
A |
3: 102,951,972 (GRCm39) |
V258I |
possibly damaging |
Het |
| Dennd5a |
G |
T |
7: 109,500,325 (GRCm39) |
H909Q |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,456,904 (GRCm39) |
D890G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,375,086 (GRCm39) |
M1379K |
probably benign |
Het |
| Dpp10 |
A |
T |
1: 123,264,593 (GRCm39) |
I743N |
probably damaging |
Het |
| Dpp9 |
T |
A |
17: 56,495,321 (GRCm39) |
T815S |
probably damaging |
Het |
| Ears2 |
T |
C |
7: 121,647,447 (GRCm39) |
N279S |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,045,128 (GRCm39) |
|
probably null |
Het |
| Eomes |
C |
G |
9: 118,310,353 (GRCm39) |
P288A |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,072 (GRCm39) |
D2310G |
probably damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,854 (GRCm39) |
T143A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,327,646 (GRCm39) |
K201E |
possibly damaging |
Het |
| Gfra3 |
C |
T |
18: 34,828,710 (GRCm39) |
R228Q |
probably damaging |
Het |
| Grin1 |
A |
T |
2: 25,185,829 (GRCm39) |
V876E |
probably damaging |
Het |
| Igkv12-41 |
A |
C |
6: 69,835,635 (GRCm39) |
V39G |
probably damaging |
Het |
| Kat7 |
A |
T |
11: 95,174,910 (GRCm39) |
M367K |
possibly damaging |
Het |
| Ly6d |
T |
C |
15: 74,634,654 (GRCm39) |
K33E |
possibly damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,529,998 (GRCm39) |
N273S |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,377,480 (GRCm39) |
I1485F |
possibly damaging |
Het |
| Marchf10 |
G |
T |
11: 105,287,787 (GRCm39) |
L172I |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,748,614 (GRCm39) |
S4220A |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,406,872 (GRCm39) |
V8460A |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,282,936 (GRCm39) |
F769L |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk4 |
A |
G |
13: 32,905,998 (GRCm39) |
L395P |
probably damaging |
Het |
| Nat8f6 |
A |
T |
6: 85,785,504 (GRCm39) |
L215* |
probably null |
Het |
| Nell2 |
T |
C |
15: 95,244,768 (GRCm39) |
D443G |
probably damaging |
Het |
| Nkx6-3 |
A |
G |
8: 23,647,632 (GRCm39) |
K197R |
probably benign |
Het |
| Nt5c3 |
A |
T |
6: 56,859,958 (GRCm39) |
L293* |
probably null |
Het |
| Ntrk1 |
A |
T |
3: 87,690,109 (GRCm39) |
V429D |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,023,508 (GRCm39) |
V623A |
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,051,186 (GRCm39) |
F115S |
probably benign |
Het |
| Or4c1 |
A |
G |
2: 89,133,837 (GRCm39) |
L33S |
probably damaging |
Het |
| Or5ac21 |
A |
G |
16: 59,124,142 (GRCm39) |
T209A |
probably damaging |
Het |
| Or5p5 |
C |
T |
7: 107,414,271 (GRCm39) |
T160I |
probably benign |
Het |
| Or6c74 |
T |
C |
10: 129,870,178 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,163,295 (GRCm39) |
I135N |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,557,969 (GRCm39) |
D33V |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,034,747 (GRCm39) |
I1843N |
probably damaging |
Het |
| Pla2g4f |
A |
T |
2: 120,134,077 (GRCm39) |
I503N |
probably benign |
Het |
| Prkg1 |
C |
A |
19: 30,602,174 (GRCm39) |
E361* |
probably null |
Het |
| Proca1 |
A |
G |
11: 78,085,613 (GRCm39) |
|
probably benign |
Het |
| Prss38 |
G |
T |
11: 59,263,850 (GRCm39) |
H287Q |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,744,114 (GRCm39) |
E169G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,681,440 (GRCm39) |
S65G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,592,135 (GRCm39) |
H177L |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,050,609 (GRCm39) |
G276D |
possibly damaging |
Het |
| Spag6l |
A |
T |
16: 16,601,802 (GRCm39) |
L159I |
probably damaging |
Het |
| Spata31f1a |
G |
A |
4: 42,850,291 (GRCm39) |
P622S |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,935,269 (GRCm39) |
E174D |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,660,105 (GRCm39) |
V730E |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,745,804 (GRCm39) |
M1323K |
unknown |
Het |
| Tpr |
T |
C |
1: 150,312,598 (GRCm39) |
V1932A |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,950,892 (GRCm39) |
S432P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,738,534 (GRCm39) |
F4002I |
probably benign |
Het |
| Txndc11 |
G |
A |
16: 10,906,009 (GRCm39) |
T507I |
probably damaging |
Het |
| Usp12 |
G |
A |
5: 146,691,349 (GRCm39) |
T135I |
possibly damaging |
Het |
| Vit |
T |
A |
17: 78,934,187 (GRCm39) |
Y596* |
probably null |
Het |
| Vmn1r32 |
A |
T |
6: 66,530,345 (GRCm39) |
Y144N |
possibly damaging |
Het |
| Vmn2r80 |
G |
T |
10: 79,005,438 (GRCm39) |
L358F |
probably benign |
Het |
| Zfp382 |
T |
G |
7: 29,825,261 (GRCm39) |
S38A |
probably benign |
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 |
|
|
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'- CAAAACAGCATTCTTCATCCTCAGG -3'
(R):5'- ACAAAGCAAACGTTCCTTAGG -3'
Sequencing Primer
(F):5'- AGACATGCCTGTGTAGTCAC -3'
(R):5'- ATACATGCCCTTTGTAGAAA -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation