Incidental Mutation 'R7230:Tmprss2'
| ID |
562435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss2
|
| Ensembl Gene |
ENSMUSG00000000385 |
| Gene Name |
transmembrane protease, serine 2 |
| Synonyms |
D16Ertd61e, epitheliasin |
| MMRRC Submission |
045302-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
97365882-97412395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97379797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 168
(Y168H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000395]
[ENSMUST00000231544]
|
| AlphaFold |
Q9JIQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000395
AA Change: Y168H
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: Y168H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
|
LDLa
|
111 |
149 |
1e-9 |
SMART |
|
SR
|
148 |
241 |
8.55e-10 |
SMART |
|
Tryp_SPc
|
253 |
482 |
4.58e-92 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231544
AA Change: Y48H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
C |
7: 45,766,812 (GRCm39) |
D989E |
probably benign |
Het |
| Adad1 |
A |
G |
3: 37,119,315 (GRCm39) |
Y132C |
probably damaging |
Het |
| Adam33 |
A |
T |
2: 130,895,483 (GRCm39) |
C579S |
probably damaging |
Het |
| Adam6a |
A |
C |
12: 113,509,202 (GRCm39) |
Q525P |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,042 (GRCm39) |
P953L |
probably damaging |
Het |
| Arb2a |
G |
A |
13: 77,907,591 (GRCm39) |
E5K |
probably damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
| Bpgm |
A |
G |
6: 34,464,502 (GRCm39) |
E73G |
possibly damaging |
Het |
| Cab39 |
T |
A |
1: 85,775,880 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,554,809 (GRCm39) |
L285P |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,196,979 (GRCm39) |
E429G |
possibly damaging |
Het |
| Cct3 |
C |
T |
3: 88,220,567 (GRCm39) |
R260W |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,927,199 (GRCm39) |
|
probably null |
Het |
| Cxcr4 |
T |
G |
1: 128,517,527 (GRCm39) |
T45P |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
| Dlec1 |
T |
G |
9: 118,953,606 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
G |
3: 106,480,294 (GRCm39) |
Y202* |
probably null |
Het |
| Etl4 |
C |
A |
2: 20,802,799 (GRCm39) |
T1035K |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,012,522 (GRCm39) |
F479L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,972,372 (GRCm39) |
G110W |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,445,807 (GRCm39) |
I303N |
probably damaging |
Het |
| Grik5 |
A |
G |
7: 24,722,495 (GRCm39) |
F538S |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,444,860 (GRCm39) |
|
probably null |
Het |
| Hs2st1 |
T |
C |
3: 144,140,307 (GRCm39) |
D338G |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,206,062 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
T |
C |
1: 135,334,496 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
T |
G |
17: 56,676,155 (GRCm39) |
L220R |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,131,299 (GRCm39) |
F705Y |
probably damaging |
Het |
| Med22 |
C |
T |
2: 26,798,223 (GRCm39) |
D99N |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,235,479 (GRCm39) |
Y519C |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,833,873 (GRCm39) |
I25M |
probably damaging |
Het |
| Ncam1 |
T |
A |
9: 49,421,123 (GRCm39) |
I731F |
probably benign |
Het |
| Nlrp4f |
T |
A |
13: 65,342,715 (GRCm39) |
H310L |
probably benign |
Het |
| Or2ag1b |
A |
T |
7: 106,288,731 (GRCm39) |
M69K |
possibly damaging |
Het |
| Or2ag2b |
C |
A |
7: 106,417,386 (GRCm39) |
T32K |
possibly damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,906 (GRCm39) |
Y123F |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,261 (GRCm39) |
F12I |
probably damaging |
Het |
| Prl8a6 |
T |
A |
13: 27,617,021 (GRCm39) |
Y223F |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,541,228 (GRCm39) |
D244G |
probably damaging |
Het |
| Ptx4 |
A |
T |
17: 25,342,077 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,611 (GRCm39) |
D545E |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,570,441 (GRCm39) |
S398P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,639,931 (GRCm39) |
V241A |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,511,324 (GRCm39) |
D109G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,980,674 (GRCm39) |
I1477K |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,701,691 (GRCm39) |
Y18F |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,569,044 (GRCm39) |
I27283K |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vasn |
C |
T |
16: 4,467,486 (GRCm39) |
R478C |
probably benign |
Het |
| Zfp58 |
A |
T |
13: 67,640,082 (GRCm39) |
C136* |
probably null |
Het |
|
| Other mutations in Tmprss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Tmprss2
|
APN |
16 |
97,379,795 (GRCm39) |
nonsense |
probably null |
|
|
IGL02130:Tmprss2
|
APN |
16 |
97,392,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:Tmprss2
|
APN |
16 |
97,400,479 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03080:Tmprss2
|
APN |
16 |
97,398,044 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4480001:Tmprss2
|
UTSW |
16 |
97,400,460 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0395:Tmprss2
|
UTSW |
16 |
97,368,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Tmprss2
|
UTSW |
16 |
97,373,194 (GRCm39) |
unclassified |
probably benign |
|
|
R1055:Tmprss2
|
UTSW |
16 |
97,377,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1080:Tmprss2
|
UTSW |
16 |
97,392,698 (GRCm39) |
missense |
probably benign |
|
|
R1405:Tmprss2
|
UTSW |
16 |
97,398,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1405:Tmprss2
|
UTSW |
16 |
97,398,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1930:Tmprss2
|
UTSW |
16 |
97,370,262 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1931:Tmprss2
|
UTSW |
16 |
97,370,262 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1955:Tmprss2
|
UTSW |
16 |
97,368,377 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2443:Tmprss2
|
UTSW |
16 |
97,369,703 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3825:Tmprss2
|
UTSW |
16 |
97,398,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Tmprss2
|
UTSW |
16 |
97,371,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Tmprss2
|
UTSW |
16 |
97,377,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5571:Tmprss2
|
UTSW |
16 |
97,392,071 (GRCm39) |
missense |
probably null |
1.00 |
|
R5715:Tmprss2
|
UTSW |
16 |
97,370,183 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6816:Tmprss2
|
UTSW |
16 |
97,369,667 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6921:Tmprss2
|
UTSW |
16 |
97,369,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7311:Tmprss2
|
UTSW |
16 |
97,369,616 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7788:Tmprss2
|
UTSW |
16 |
97,377,429 (GRCm39) |
nonsense |
probably null |
|
|
R8052:Tmprss2
|
UTSW |
16 |
97,369,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Tmprss2
|
UTSW |
16 |
97,369,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8511:Tmprss2
|
UTSW |
16 |
97,369,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9234:Tmprss2
|
UTSW |
16 |
97,379,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Tmprss2
|
UTSW |
16 |
97,400,459 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9456:Tmprss2
|
UTSW |
16 |
97,392,669 (GRCm39) |
missense |
probably benign |
|
|
R9629:Tmprss2
|
UTSW |
16 |
97,369,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9680:Tmprss2
|
UTSW |
16 |
97,379,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tmprss2
|
UTSW |
16 |
97,368,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTAGCAGGGGATGAGTTTGC -3'
(R):5'- TGCAGCCATAGCCTTAGGAAG -3'
Sequencing Primer
(F):5'- CTTATAGGGCCAGCTTTAGGAAG -3'
(R):5'- CCATAGCCTTAGGAAGAAGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation