Incidental Mutation 'R2381:Pmepa1'
| ID |
248452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmepa1
|
| Ensembl Gene |
ENSMUSG00000038400 |
| Gene Name |
prostate transmembrane protein, androgen induced 1 |
| Synonyms |
N4wbp4, Tmepai, 2210418I02Rik, PMEPA1, STAG1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2381 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
173066251-173118326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 173069926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 210
(R210W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036248]
[ENSMUST00000139306]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036248
AA Change: R172W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039950
Gene: ENSMUSG00000038400
AA Change: R172W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124124
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139306
AA Change: R210W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115534
Gene: ENSMUSG00000038400
AA Change: R210W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5611 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,186,887 (GRCm39) |
V541A |
probably benign |
Het |
| Dnajb1 |
T |
A |
8: 84,336,971 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,342,871 (GRCm39) |
K1405R |
probably benign |
Het |
| Dpys |
C |
A |
15: 39,705,450 (GRCm39) |
R221L |
probably damaging |
Het |
| Elapor2 |
C |
T |
5: 9,430,342 (GRCm39) |
P84L |
probably damaging |
Het |
| Gm12253 |
C |
T |
11: 58,326,284 (GRCm39) |
R100C |
probably damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,439 (GRCm39) |
S592R |
probably damaging |
Het |
| Lct |
G |
A |
1: 128,231,858 (GRCm39) |
Q664* |
probably null |
Het |
| Or7g28 |
T |
A |
9: 19,271,753 (GRCm39) |
E299D |
probably benign |
Het |
| Pnpla7 |
A |
C |
2: 24,870,770 (GRCm39) |
K80T |
probably damaging |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,250,128 (GRCm39) |
D105G |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,181,826 (GRCm39) |
I23T |
possibly damaging |
Het |
| Unc5c |
A |
G |
3: 141,383,916 (GRCm39) |
E98G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,935,658 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
G |
A |
7: 23,508,093 (GRCm39) |
T178I |
probably benign |
Het |
| Zgrf1 |
A |
T |
3: 127,349,863 (GRCm39) |
M15L |
probably benign |
Het |
|
| Other mutations in Pmepa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1401:Pmepa1
|
UTSW |
2 |
173,070,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1439:Pmepa1
|
UTSW |
2 |
173,069,874 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1772:Pmepa1
|
UTSW |
2 |
173,076,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2382:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2386:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3785:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Pmepa1
|
UTSW |
2 |
173,069,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Pmepa1
|
UTSW |
2 |
173,070,120 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5368:Pmepa1
|
UTSW |
2 |
173,070,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Pmepa1
|
UTSW |
2 |
173,076,105 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7371:Pmepa1
|
UTSW |
2 |
173,076,212 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7640:Pmepa1
|
UTSW |
2 |
173,117,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8221:Pmepa1
|
UTSW |
2 |
173,069,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Pmepa1
|
UTSW |
2 |
173,069,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9227:Pmepa1
|
UTSW |
2 |
173,117,962 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9228:Pmepa1
|
UTSW |
2 |
173,117,962 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9229:Pmepa1
|
UTSW |
2 |
173,117,962 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9260:Pmepa1
|
UTSW |
2 |
173,117,943 (GRCm39) |
small deletion |
probably benign |
|
|
R9568:Pmepa1
|
UTSW |
2 |
173,069,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGACCTCGCTGTAGGTG -3'
(R):5'- GAATCCAACCTCAGTCTGCC -3'
Sequencing Primer
(F):5'- GATGCCCGAGTTACTGC -3'
(R):5'- TCCAGCCACAGGTCTATGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation