Incidental Mutation 'R7018:Tmprss15'
ID |
545471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss15
|
Ensembl Gene |
ENSMUSG00000022857 |
Gene Name |
transmembrane protease, serine 15 |
Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
MMRRC Submission |
045119-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7018 (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 78821741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 438
(Y438C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
AlphaFold |
P97435 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023566
AA Change: Y438C
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023566 Gene: ENSMUSG00000022857 AA Change: Y438C
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 |
possibly damaging
Transcript: ENSMUST00000060402
AA Change: Y423C
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052034 Gene: ENSMUSG00000022857 AA Change: Y423C
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 |
0.8994 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (64/64) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apcdd1 |
G |
T |
18: 63,070,120 (GRCm39) |
R129L |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,101,943 (GRCm39) |
V844I |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,265,665 (GRCm39) |
V1569A |
probably damaging |
Het |
Atr |
T |
A |
9: 95,748,747 (GRCm39) |
S431T |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,360,953 (GRCm39) |
D795G |
possibly damaging |
Het |
Crygf |
T |
C |
1: 65,967,130 (GRCm39) |
S85P |
probably benign |
Het |
Dip2c |
T |
A |
13: 9,709,314 (GRCm39) |
Y1385N |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,454,509 (GRCm39) |
V840I |
possibly damaging |
Het |
Dsg1a |
T |
C |
18: 20,461,795 (GRCm39) |
F299L |
possibly damaging |
Het |
Fgfr4 |
A |
T |
13: 55,314,013 (GRCm39) |
S576C |
probably damaging |
Het |
Frmd8 |
T |
C |
19: 5,919,546 (GRCm39) |
D167G |
probably damaging |
Het |
Gm5105 |
G |
A |
3: 137,755,319 (GRCm39) |
T89I |
unknown |
Het |
Grhl1 |
C |
T |
12: 24,625,996 (GRCm39) |
S35L |
possibly damaging |
Het |
Gsn |
A |
G |
2: 35,183,518 (GRCm39) |
E242G |
probably benign |
Het |
Hcrtr1 |
A |
G |
4: 130,029,661 (GRCm39) |
I140T |
probably damaging |
Het |
Ifnlr1 |
T |
C |
4: 135,431,135 (GRCm39) |
Y208H |
possibly damaging |
Het |
Ighv1-58 |
T |
C |
12: 115,275,985 (GRCm39) |
Y51C |
probably damaging |
Het |
Iqcj |
T |
A |
3: 67,948,580 (GRCm39) |
Y21* |
probably null |
Het |
Kcnc4 |
T |
C |
3: 107,366,178 (GRCm39) |
Y10C |
probably benign |
Het |
Kcnk7 |
G |
T |
19: 5,756,160 (GRCm39) |
G129W |
probably damaging |
Het |
Kcnq2 |
T |
A |
2: 180,723,517 (GRCm39) |
R620* |
probably null |
Het |
Klk13 |
C |
A |
7: 43,376,126 (GRCm39) |
P267Q |
probably benign |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
Lamc2 |
T |
A |
1: 153,012,488 (GRCm39) |
M729L |
probably benign |
Het |
Lyst |
T |
G |
13: 13,918,044 (GRCm39) |
|
probably null |
Het |
Med13l |
G |
A |
5: 118,890,051 (GRCm39) |
R1909H |
probably damaging |
Het |
Mstn |
T |
A |
1: 53,103,243 (GRCm39) |
L193Q |
possibly damaging |
Het |
Mylk |
T |
C |
16: 34,820,796 (GRCm39) |
V125A |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,647,233 (GRCm39) |
M547L |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,952,785 (GRCm39) |
S1256P |
probably damaging |
Het |
Nkain1 |
T |
C |
4: 130,532,118 (GRCm38) |
Y189C |
probably damaging |
Het |
Oosp3 |
T |
A |
19: 11,676,783 (GRCm39) |
D47E |
probably benign |
Het |
Or14j8 |
A |
T |
17: 38,263,393 (GRCm39) |
I174N |
probably damaging |
Het |
Or5d37 |
T |
A |
2: 87,923,600 (GRCm39) |
I227F |
probably benign |
Het |
Or5h25 |
A |
G |
16: 58,930,970 (GRCm39) |
M1T |
probably null |
Het |
Or5p66 |
T |
G |
7: 107,885,551 (GRCm39) |
I261L |
probably benign |
Het |
Pcdh15 |
G |
T |
10: 74,302,186 (GRCm39) |
G942W |
probably damaging |
Het |
Pcyox1l |
C |
A |
18: 61,840,625 (GRCm39) |
|
probably benign |
Het |
Peg3 |
T |
C |
7: 6,711,838 (GRCm39) |
E1128G |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plscr1 |
T |
A |
9: 92,146,715 (GRCm39) |
V119D |
probably damaging |
Het |
Prss56 |
A |
T |
1: 87,113,670 (GRCm39) |
D258V |
possibly damaging |
Het |
Ptpn23 |
T |
G |
9: 110,214,884 (GRCm39) |
K85Q |
possibly damaging |
Het |
Ranbp3l |
C |
A |
15: 9,037,159 (GRCm39) |
S7Y |
probably benign |
Het |
Rnf31 |
T |
C |
14: 55,829,690 (GRCm39) |
L85P |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,305,207 (GRCm39) |
C847R |
possibly damaging |
Het |
Six4 |
T |
A |
12: 73,155,727 (GRCm39) |
E413D |
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Sned1 |
T |
C |
1: 93,212,143 (GRCm39) |
V1115A |
probably damaging |
Het |
Spen |
T |
C |
4: 141,220,755 (GRCm39) |
K401E |
unknown |
Het |
Srbd1 |
T |
A |
17: 86,443,843 (GRCm39) |
R128W |
possibly damaging |
Het |
Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
Susd1 |
T |
G |
4: 59,390,627 (GRCm39) |
T230P |
probably benign |
Het |
Thumpd2 |
G |
T |
17: 81,363,326 (GRCm39) |
S47* |
probably null |
Het |
Tmprss11a |
C |
T |
5: 86,576,429 (GRCm39) |
V141I |
probably damaging |
Het |
Tnfrsf1a |
T |
C |
6: 125,333,914 (GRCm39) |
S56P |
probably damaging |
Het |
Ttc39d |
T |
C |
17: 80,523,610 (GRCm39) |
W90R |
probably benign |
Het |
Utp25 |
A |
G |
1: 192,797,163 (GRCm39) |
I563T |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdr20rt |
A |
T |
12: 65,272,536 (GRCm39) |
|
probably null |
Het |
Zfp646 |
C |
A |
7: 127,481,494 (GRCm39) |
Q1224K |
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 |
|
R6894:Tmprss15
|
UTSW |
16 |
78,872,702 (GRCm39) |
nonsense |
probably null |
|
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'- CCTAAACATTTACAGAGACGGC -3'
(R):5'- GCTGATTATCTGTCAAGCTGTG -3'
Sequencing Primer
(F):5'- GAGACGGCATTTAAATATTTCCTACC -3'
(R):5'- CTGTCAAGCTGTGAATTCATCAAG -3'
|
Posted On |
2019-05-13 |