Incidental Mutation 'R9014:Tmprss15'
| ID |
685871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
068844-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9014 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78872691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 172
(T172A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
| AlphaFold |
P97435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023566
AA Change: T172A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: T172A
| 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 benign
Transcript: ENSMUST00000060402
AA Change: T172A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: T172A
| 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: 99.6%
- 20x: 98.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,798,857 (GRCm39) |
N746S |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,170 (GRCm39) |
T1301A |
possibly damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,403 (GRCm39) |
N1272K |
possibly damaging |
Het |
| Apc |
G |
T |
18: 34,354,074 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
A |
G |
7: 101,053,540 (GRCm39) |
S1290G |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,019,607 (GRCm39) |
Y483C |
probably damaging |
Het |
| Arpp21 |
G |
T |
9: 112,006,796 (GRCm39) |
Q138K |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,173,048 (GRCm39) |
S1557P |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,163,715 (GRCm39) |
A671V |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,160,488 (GRCm39) |
L649P |
possibly damaging |
Het |
| Brca2 |
C |
A |
5: 150,465,219 (GRCm39) |
T1661K |
probably benign |
Het |
| Casq1 |
T |
A |
1: 172,038,064 (GRCm39) |
S356C |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,906,066 (GRCm39) |
Y171C |
probably damaging |
Het |
| Ccdc88c |
G |
C |
12: 100,879,323 (GRCm39) |
Q1926E |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,372,289 (GRCm39) |
M1425K |
possibly damaging |
Het |
| Chac2 |
C |
T |
11: 30,936,158 (GRCm39) |
R30Q |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,442,731 (GRCm39) |
D771G |
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,675,844 (GRCm39) |
|
probably null |
Het |
| Dcaf8 |
T |
C |
1: 172,007,530 (GRCm39) |
V333A |
possibly damaging |
Het |
| Dennd4c |
G |
A |
4: 86,739,702 (GRCm39) |
S997N |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,666 (GRCm39) |
I1559L |
probably benign |
Het |
| Dgcr8 |
T |
G |
16: 18,077,514 (GRCm39) |
H632P |
possibly damaging |
Het |
| Dhx16 |
C |
A |
17: 36,193,490 (GRCm39) |
R278S |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,788,509 (GRCm39) |
Y675* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,376,700 (GRCm39) |
I1495T |
possibly damaging |
Het |
| Fam227a |
T |
A |
15: 79,504,958 (GRCm39) |
N495I |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,876 (GRCm39) |
E1834G |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,275,763 (GRCm39) |
M1124K |
unknown |
Het |
| Foxi3 |
A |
G |
6: 70,937,815 (GRCm39) |
H349R |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,806,898 (GRCm39) |
D1072E |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,817,075 (GRCm39) |
H4269Q |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gm49383 |
A |
C |
12: 69,243,425 (GRCm39) |
Y151* |
probably null |
Het |
| Ighv1-26 |
T |
A |
12: 114,752,033 (GRCm39) |
S104C |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,430,087 (GRCm39) |
N1814S |
unknown |
Het |
| Kif18a |
T |
A |
2: 109,123,414 (GRCm39) |
H229Q |
probably damaging |
Het |
| Klk1b4 |
C |
T |
7: 43,859,098 (GRCm39) |
R39C |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,931,248 (GRCm39) |
I269V |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,294,219 (GRCm39) |
V304A |
probably damaging |
Het |
| Lsm8 |
A |
G |
6: 18,853,632 (GRCm39) |
D78G |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,928,670 (GRCm39) |
M1T |
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,278,871 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,329,118 (GRCm39) |
D2179N |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,448,405 (GRCm39) |
T366M |
possibly damaging |
Het |
| Or12j4 |
A |
T |
7: 140,045,883 (GRCm39) |
|
probably benign |
Het |
| Or56b1b |
A |
G |
7: 108,164,882 (GRCm39) |
L40P |
possibly damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,123 (GRCm39) |
V202A |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,035 (GRCm39) |
I256F |
probably benign |
Het |
| Pear1 |
T |
C |
3: 87,658,479 (GRCm39) |
Q964R |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,687 (GRCm39) |
E247A |
probably benign |
Het |
| Ppfia2 |
C |
T |
10: 106,763,666 (GRCm39) |
P1220S |
probably benign |
Het |
| Ppp1r1b |
T |
C |
11: 98,241,449 (GRCm39) |
S46P |
probably damaging |
Het |
| Ppp2ca |
C |
A |
11: 52,009,510 (GRCm39) |
H167Q |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,822,575 (GRCm39) |
R396S |
probably benign |
Het |
| Siae |
T |
C |
9: 37,557,639 (GRCm39) |
V482A |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,483,026 (GRCm39) |
M144V |
probably benign |
Het |
| Slc23a3 |
A |
G |
1: 75,109,274 (GRCm39) |
F219L |
probably benign |
Het |
| Slc4a4 |
G |
T |
5: 89,280,245 (GRCm39) |
A348S |
probably damaging |
Het |
| Spin1 |
G |
T |
13: 51,282,010 (GRCm39) |
|
probably null |
Het |
| Tab2 |
G |
A |
10: 7,794,920 (GRCm39) |
R521W |
probably damaging |
Het |
| Tas2r118 |
G |
A |
6: 23,970,049 (GRCm39) |
T4M |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,172,949 (GRCm39) |
D1771V |
probably damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Txnrd3 |
A |
G |
6: 89,631,091 (GRCm39) |
Y129C |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,017,294 (GRCm39) |
I728T |
probably benign |
Het |
| Vmn1r44 |
G |
A |
6: 89,870,997 (GRCm39) |
V248M |
possibly damaging |
Het |
| Wdr64 |
A |
G |
1: 175,526,395 (GRCm39) |
I15V |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,785,544 (GRCm39) |
T423A |
probably benign |
Het |
| Zfp619 |
T |
C |
7: 39,187,246 (GRCm39) |
I1092T |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,274 (GRCm39) |
Y664N |
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 |
|
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 |
|
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'- TACATGCCCTTTGTAGAAAT -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation