Incidental Mutation 'R1708:Tmprss15'
| ID |
190265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
039741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1708 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78850958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 327
(I327V)
|
| 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: I327V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: I327V
| 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: I312V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: I312V
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,941,732 (GRCm39) |
I4F |
probably benign |
Het |
| Aadacl4fm1 |
T |
C |
4: 144,246,511 (GRCm39) |
V19A |
probably benign |
Het |
| Abca8a |
A |
T |
11: 109,943,928 (GRCm39) |
S1114T |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,708,974 (GRCm39) |
Y55F |
possibly damaging |
Het |
| Alb |
A |
C |
5: 90,611,910 (GRCm39) |
D113A |
possibly damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,305,155 (GRCm39) |
R203Q |
probably damaging |
Het |
| Aqp6 |
T |
C |
15: 99,500,543 (GRCm39) |
V156A |
possibly damaging |
Het |
| AU018091 |
T |
C |
7: 3,206,184 (GRCm39) |
S616G |
probably damaging |
Het |
| Cfd |
T |
A |
10: 79,727,441 (GRCm39) |
D68E |
probably benign |
Het |
| Cntn2 |
C |
T |
1: 132,446,936 (GRCm39) |
A725T |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,801,312 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,274,633 (GRCm39) |
T315A |
probably benign |
Het |
| Cyp2j13 |
G |
T |
4: 95,950,304 (GRCm39) |
N232K |
probably damaging |
Het |
| Cyp2j8 |
A |
T |
4: 96,387,832 (GRCm39) |
F210I |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,805,980 (GRCm39) |
T3373M |
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,864,790 (GRCm39) |
K549E |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,403,870 (GRCm39) |
V744I |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,523,868 (GRCm39) |
S669G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,451,464 (GRCm39) |
K108N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,477,829 (GRCm39) |
V2292M |
probably damaging |
Het |
| Fibp |
T |
C |
19: 5,513,822 (GRCm39) |
C255R |
probably null |
Het |
| Fzd1 |
A |
G |
5: 4,805,791 (GRCm39) |
V597A |
possibly damaging |
Het |
| Gm12790 |
G |
A |
4: 101,825,174 (GRCm39) |
A80V |
possibly damaging |
Het |
| Gm2381 |
A |
T |
7: 42,469,649 (GRCm39) |
N158K |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,085,441 (GRCm39) |
D940E |
probably benign |
Het |
| Ints1 |
A |
T |
5: 139,748,594 (GRCm39) |
V1071E |
probably damaging |
Het |
| Kat5 |
A |
T |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Klra6 |
A |
C |
6: 129,999,677 (GRCm39) |
L97* |
probably null |
Het |
| Ly6c2 |
C |
T |
15: 74,983,469 (GRCm39) |
|
probably null |
Het |
| Mon1a |
G |
A |
9: 107,775,917 (GRCm39) |
E12K |
probably benign |
Het |
| Myo3b |
A |
T |
2: 70,075,729 (GRCm39) |
K578* |
probably null |
Het |
| Myrip |
A |
T |
9: 120,293,840 (GRCm39) |
R778S |
possibly damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,968 (GRCm39) |
|
noncoding transcript |
Het |
| Or2w4 |
C |
T |
13: 21,795,240 (GRCm39) |
A300T |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
| Or4c35 |
A |
G |
2: 89,808,382 (GRCm39) |
R87G |
probably benign |
Het |
| Or52n4b |
T |
A |
7: 108,143,781 (GRCm39) |
F14L |
probably benign |
Het |
| Or5b121 |
T |
C |
19: 13,507,277 (GRCm39) |
V80A |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,572,687 (GRCm39) |
I288V |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,293 (GRCm39) |
S92T |
probably benign |
Het |
| Pou3f2 |
C |
A |
4: 22,487,255 (GRCm39) |
V293L |
possibly damaging |
Het |
| Rbm15 |
A |
G |
3: 107,238,536 (GRCm39) |
S621P |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,347,083 (GRCm39) |
S110G |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,143,593 (GRCm39) |
V115D |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,544,929 (GRCm39) |
H347R |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,602,328 (GRCm39) |
|
probably null |
Het |
| Sema4f |
G |
T |
6: 82,894,975 (GRCm39) |
P407T |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,901,682 (GRCm39) |
T662A |
probably damaging |
Het |
| Slc27a1 |
C |
A |
8: 72,037,274 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
T |
A |
10: 83,069,596 (GRCm39) |
I519F |
probably damaging |
Het |
| Sntg2 |
C |
T |
12: 30,423,179 (GRCm39) |
S17N |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,348 (GRCm39) |
L1184P |
probably damaging |
Het |
| Taf5l |
G |
A |
8: 124,736,509 (GRCm39) |
Q21* |
probably null |
Het |
| Tbc1d32 |
A |
C |
10: 56,027,865 (GRCm39) |
S746A |
possibly damaging |
Het |
| Tdrd1 |
T |
G |
19: 56,830,721 (GRCm39) |
S251R |
probably benign |
Het |
| Thap7 |
C |
T |
16: 17,346,814 (GRCm39) |
R121Q |
probably benign |
Het |
| Tmem50a |
A |
G |
4: 134,625,779 (GRCm39) |
V146A |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,150 (GRCm39) |
N114D |
probably damaging |
Het |
| Ttc23 |
T |
C |
7: 67,316,924 (GRCm39) |
I65T |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,481 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Vopp1 |
C |
T |
6: 57,739,497 (GRCm39) |
R17H |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,639,128 (GRCm39) |
K337E |
probably benign |
Het |
| Wrap53 |
G |
A |
11: 69,454,761 (GRCm39) |
R203* |
probably null |
Het |
| Zfp944 |
T |
C |
17: 22,558,026 (GRCm39) |
Y407C |
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 |
|
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 |
|
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'- TCCTATGGAAGGTCCTATGCCACTC -3'
(R):5'- AGTCAGATGGCTTATCCGATCTGTTTTG -3'
Sequencing Primer
(F):5'- TCCTAATTTTGACAGGGAAGGC -3'
(R):5'- GGCTTATCCGATCTGTTTTGTATCAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation