Incidental Mutation 'R2386:Pmepa1'
ID 247692
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) question?
Stock # R2386 (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

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.7%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,328,575 (GRCm39) D2G probably damaging Het
Btnl9 A G 11: 49,069,602 (GRCm39) S226P probably damaging Het
Canx A T 11: 50,187,933 (GRCm39) D558E probably benign Het
Cd248 G T 19: 5,119,221 (GRCm39) M356I possibly damaging Het
Col1a1 A T 11: 94,841,217 (GRCm39) D1200V unknown Het
Dgat2 A C 7: 98,806,300 (GRCm39) V299G possibly damaging Het
Ercc6 G A 14: 32,263,316 (GRCm39) probably null Het
Fgfr4 T C 13: 55,315,714 (GRCm39) V747A probably benign Het
Ftcd A C 10: 76,417,211 (GRCm39) D240A probably damaging Het
Hs3st3b1 C A 11: 63,780,039 (GRCm39) E363* probably null Het
Ikbke A G 1: 131,187,003 (GRCm39) L563P probably damaging Het
Lbhd2 A T 12: 111,376,741 (GRCm39) T63S possibly damaging Het
Mterf1a A T 5: 3,941,225 (GRCm39) D214E probably benign Het
Or5p53 A G 7: 107,533,480 (GRCm39) Y251C probably damaging Het
Pclo A G 5: 14,815,261 (GRCm39) E4511G unknown Het
Pigs A G 11: 78,223,812 (GRCm39) Y108C probably damaging Het
Pkhd1l1 A G 15: 44,391,574 (GRCm39) T1547A probably benign Het
Rad54b T A 4: 11,597,874 (GRCm39) M253K probably benign Het
Rrp12 T C 19: 41,859,723 (GRCm39) D1080G probably benign Het
Sox6 A G 7: 115,196,740 (GRCm39) Y298H probably damaging Het
Tdrd9 A T 12: 111,982,334 (GRCm39) D475V probably damaging Het
Tmem131 G A 1: 36,868,716 (GRCm39) H370Y 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
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'- GAATCCAACCTCAGTCTGCCTC -3'

Sequencing Primer
(F):5'- GATGCCCGAGTTACTGC -3'
(R):5'- TCCAGCCACAGGTCTATGC -3'
Posted On 2014-11-11