Incidental Mutation 'R7324:Tmprss15'
ID |
568781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss15
|
Ensembl Gene |
ENSMUSG00000022857 |
Gene Name |
transmembrane protease, serine 15 |
Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
MMRRC Submission |
045418-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7324 (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 78758907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 937
(Y937C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
AlphaFold |
P97435 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023566
AA Change: Y937C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023566 Gene: ENSMUSG00000022857 AA Change: Y937C
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: Y922C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052034 Gene: ENSMUSG00000022857 AA Change: Y922C
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 |
0.5766 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (81/82) |
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 |
Abcg5 |
T |
C |
17: 84,983,667 (GRCm39) |
D124G |
possibly damaging |
Het |
Ackr3 |
C |
G |
1: 90,141,923 (GRCm39) |
N127K |
probably damaging |
Het |
AL732309.1 |
A |
C |
2: 25,136,151 (GRCm39) |
M21R |
possibly damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,032 (GRCm39) |
T552K |
possibly damaging |
Het |
Arhgap28 |
T |
C |
17: 68,202,879 (GRCm39) |
|
probably null |
Het |
Arid5b |
A |
T |
10: 67,964,752 (GRCm39) |
N306K |
probably benign |
Het |
C1qtnf3 |
A |
C |
15: 10,952,707 (GRCm39) |
K56N |
probably benign |
Het |
C2 |
C |
T |
17: 35,100,664 (GRCm39) |
G52D |
probably benign |
Het |
Casz1 |
C |
T |
4: 149,031,490 (GRCm39) |
T1247M |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,797,552 (GRCm39) |
D778G |
unknown |
Het |
Cdh5 |
A |
G |
8: 104,869,425 (GRCm39) |
D717G |
probably damaging |
Het |
Clca3a2 |
G |
A |
3: 144,514,372 (GRCm39) |
A445V |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,547,181 (GRCm39) |
M319L |
possibly damaging |
Het |
Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
Csnk1g3 |
A |
G |
18: 54,052,090 (GRCm39) |
T220A |
probably damaging |
Het |
Cyp2d10 |
T |
G |
15: 82,287,961 (GRCm39) |
T381P |
probably damaging |
Het |
Ddb2 |
G |
A |
2: 91,067,229 (GRCm39) |
|
probably benign |
Het |
Ddx24 |
C |
A |
12: 103,382,518 (GRCm39) |
L688F |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,747,975 (GRCm39) |
L1615P |
unknown |
Het |
Dnah8 |
T |
A |
17: 31,003,099 (GRCm39) |
D3599E |
probably benign |
Het |
Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,555 (GRCm39) |
D156G |
probably benign |
Het |
Enpp2 |
A |
G |
15: 54,741,170 (GRCm39) |
|
probably null |
Het |
Ephx2 |
A |
G |
14: 66,322,803 (GRCm39) |
V490A |
probably damaging |
Het |
Etnppl |
A |
G |
3: 130,423,224 (GRCm39) |
N308D |
probably damaging |
Het |
F5 |
TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA |
TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA |
1: 164,021,150 (GRCm39) |
|
probably benign |
Het |
Fam162b |
A |
T |
10: 51,466,282 (GRCm39) |
|
probably null |
Het |
Fancl |
A |
G |
11: 26,353,362 (GRCm39) |
E86G |
probably damaging |
Het |
Flii |
G |
A |
11: 60,609,866 (GRCm39) |
T615I |
probably benign |
Het |
Fndc7 |
G |
T |
3: 108,779,537 (GRCm39) |
Q336K |
probably benign |
Het |
Gm26661 |
T |
C |
14: 7,791,911 (GRCm38) |
C109R |
unknown |
Het |
H2-DMb1 |
T |
C |
17: 34,378,436 (GRCm39) |
|
probably null |
Het |
H2-T10 |
C |
T |
17: 36,430,189 (GRCm39) |
G251R |
probably damaging |
Het |
Harbi1 |
T |
C |
2: 91,551,044 (GRCm39) |
I339T |
probably benign |
Het |
Hsp90aa1 |
A |
G |
12: 110,661,659 (GRCm39) |
M119T |
unknown |
Het |
Ighe |
T |
A |
12: 113,235,954 (GRCm39) |
Y124F |
|
Het |
Ighv7-1 |
T |
C |
12: 113,860,149 (GRCm39) |
Y81C |
probably damaging |
Het |
Ilkap |
A |
T |
1: 91,313,115 (GRCm39) |
|
probably null |
Het |
Inpp5a |
A |
G |
7: 139,105,586 (GRCm39) |
D179G |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,788,979 (GRCm39) |
D510V |
probably damaging |
Het |
Kcnn2 |
A |
T |
18: 45,693,138 (GRCm39) |
H238L |
probably benign |
Het |
Kctd17 |
T |
A |
15: 78,319,842 (GRCm39) |
C189S |
probably damaging |
Het |
Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,741,556 (GRCm39) |
E562G |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,268,218 (GRCm39) |
T6734A |
probably benign |
Het |
Maz |
G |
A |
7: 126,623,765 (GRCm39) |
T377M |
probably damaging |
Het |
Mmrn1 |
G |
T |
6: 60,921,917 (GRCm39) |
G125* |
probably null |
Het |
Mvp |
A |
G |
7: 126,592,781 (GRCm39) |
S377P |
probably benign |
Het |
Nin |
C |
T |
12: 70,090,508 (GRCm39) |
R969Q |
|
Het |
Nktr |
C |
T |
9: 121,556,427 (GRCm39) |
T35I |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,577,357 (GRCm39) |
M475K |
possibly damaging |
Het |
Nod2 |
T |
A |
8: 89,379,694 (GRCm39) |
V65D |
probably damaging |
Het |
Opa1 |
A |
T |
16: 29,405,799 (GRCm39) |
E121D |
probably benign |
Het |
Or10w3 |
C |
T |
19: 13,704,270 (GRCm39) |
A215V |
probably benign |
Het |
Or1r1 |
A |
G |
11: 73,874,669 (GRCm39) |
V255A |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,607 (GRCm39) |
V157A |
probably benign |
Het |
Or4a76 |
A |
T |
2: 89,460,447 (GRCm39) |
I265N |
possibly damaging |
Het |
Or5ac21 |
T |
C |
16: 59,123,611 (GRCm39) |
F32L |
probably benign |
Het |
Or5b123 |
A |
G |
19: 13,596,942 (GRCm39) |
I96V |
probably benign |
Het |
Or6c88 |
T |
A |
10: 129,406,718 (GRCm39) |
S65T |
probably damaging |
Het |
Or7e174 |
A |
T |
9: 20,012,726 (GRCm39) |
I224F |
possibly damaging |
Het |
Osbpl2 |
A |
G |
2: 179,791,994 (GRCm39) |
T233A |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Plekhh3 |
T |
A |
11: 101,061,600 (GRCm39) |
D38V |
possibly damaging |
Het |
Prtg |
C |
T |
9: 72,798,122 (GRCm39) |
A696V |
probably damaging |
Het |
Ptpn14 |
T |
G |
1: 189,595,621 (GRCm39) |
V748G |
possibly damaging |
Het |
Reg2 |
A |
T |
6: 78,383,137 (GRCm39) |
D28V |
probably benign |
Het |
Rhpn1 |
A |
T |
15: 75,576,246 (GRCm39) |
I2F |
possibly damaging |
Het |
Rundc3a |
A |
G |
11: 102,290,799 (GRCm39) |
E294G |
possibly damaging |
Het |
Scara3 |
T |
A |
14: 66,168,865 (GRCm39) |
I251L |
probably benign |
Het |
Slc23a2 |
G |
A |
2: 131,931,043 (GRCm39) |
T152I |
probably damaging |
Het |
Slc39a2 |
T |
G |
14: 52,131,650 (GRCm39) |
S74A |
possibly damaging |
Het |
Tpp2 |
T |
C |
1: 44,017,938 (GRCm39) |
L779S |
probably damaging |
Het |
Tssk2 |
T |
C |
16: 17,717,227 (GRCm39) |
V210A |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,725,937 (GRCm39) |
T6100S |
unknown |
Het |
Tufm |
G |
A |
7: 126,088,759 (GRCm39) |
E317K |
possibly damaging |
Het |
Vinac1 |
T |
C |
2: 128,879,772 (GRCm39) |
D718G |
unknown |
Het |
Wdfy4 |
A |
G |
14: 32,769,271 (GRCm39) |
S2219P |
|
Het |
Wtap |
T |
C |
17: 13,199,833 (GRCm39) |
N50S |
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 |
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'- CACAGTTCCAGATGTTTCTCCATTAG -3'
(R):5'- AGAAATCTAGATCCAACCAGATGG -3'
Sequencing Primer
(F):5'- CTGTAAGAGTTCCCTAAAGCTGG -3'
(R):5'- AACCAGATGGACAGCAGTC -3'
|
Posted On |
2019-09-13 |