Incidental Mutation 'R3783:Pmepa1'
ID 272111
Institutional Source Beutler Lab
Gene Symbol Pmepa1
Ensembl Gene ENSMUSG00000038400
Gene Name prostate transmembrane protein, androgen induced 1
Synonyms N4wbp4, Tmepai, 2210418I02Rik, PMEPA1, STAG1
MMRRC Submission 040875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3783 (G1)
Quality Score 225
Status 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 75 97 N/A INTRINSIC
Meta Mutation Damage Score 0.5611 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap6 A G 12: 52,927,552 (GRCm39) H154R probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Ascc3 A G 10: 50,604,350 (GRCm39) T1357A probably damaging Het
Atp13a3 A T 16: 30,173,067 (GRCm39) V270D probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc93 A G 1: 121,365,598 (GRCm39) N77S probably damaging Het
Cpt1b T C 15: 89,309,392 (GRCm39) K47R probably damaging Het
Cyp4f14 A G 17: 33,135,736 (GRCm39) Y42H probably benign Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Firrm A T 1: 163,815,252 (GRCm39) C90S probably benign Het
Flnb T G 14: 7,889,236 (GRCm38) W529G probably benign Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gml C T 15: 74,685,521 (GRCm39) V155M probably damaging Het
Gpr174 A G X: 106,336,670 (GRCm39) T161A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Isy1 T C 6: 87,798,527 (GRCm39) E209G possibly damaging Het
Kdm5b A G 1: 134,558,280 (GRCm39) H1429R probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Map3k1 C T 13: 111,892,754 (GRCm39) V834I probably benign Het
Mdn1 A T 4: 32,720,818 (GRCm39) E2310D probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Niban1 C T 1: 151,565,399 (GRCm39) S243L possibly damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Pcdha1 T A 18: 37,063,855 (GRCm39) L173Q probably damaging Het
Pdpk1 T C 17: 24,329,824 (GRCm39) T71A possibly damaging Het
Plxna2 T A 1: 194,489,829 (GRCm39) V1692E probably damaging Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Psmd4 T C 3: 94,942,562 (GRCm39) D6G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Scn10a T C 9: 119,520,628 (GRCm39) T91A probably damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Tet2 T C 3: 133,185,124 (GRCm39) K1182R possibly damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Thoc5 A G 11: 4,870,372 (GRCm39) probably benign Het
Tmprss9 G T 10: 80,723,301 (GRCm39) V254F probably damaging Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Usf2 A G 7: 30,655,256 (GRCm39) V133A probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Xdh C T 17: 74,200,590 (GRCm39) probably benign Het
Xrn1 G T 9: 95,851,338 (GRCm39) M153I probably benign Het
Other mutations in Pmepa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2381: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
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'- AATGACCTCGCTGTAGGTGG -3'
(R):5'- CATAACTCAGTCTCTGAATCTGGGG -3'

Sequencing Primer
(F):5'- CAGCATGGTGCTGTCTA -3'
(R):5'- TCTCTGAATCTGGGGGAATCCAAC -3'
Posted On 2015-03-25