Incidental Mutation 'R9229:Pmepa1'
ID 723521
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9229 (G1)
Quality Score 75.0075
Status Validated
Chromosome 2
Chromosomal Location 173066251-173118326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173117962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000039950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036248] [ENSMUST00000139306]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036248
AA Change: T6A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039950
Gene: ENSMUSG00000038400
AA Change: T6A

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139306
AA Change: T6A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115534
Gene: ENSMUSG00000038400
AA Change: T6A

DomainStartEndE-ValueType
transmembrane domain 75 97 N/A INTRINSIC
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (77/79)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 70,990,259 (GRCm39) T104A probably damaging Het
Agbl1 G A 7: 76,774,270 (GRCm39) V1065I unknown Het
Agpat1 G T 17: 34,830,663 (GRCm39) V196L probably null Het
Agxt2 T A 15: 10,409,597 (GRCm39) V499E probably damaging Het
Amy2a1 T A 3: 113,325,955 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Arhgef18 T A 8: 3,479,314 (GRCm39) S51T probably benign Het
Armc12 A C 17: 28,751,345 (GRCm39) D113A probably benign Het
Azin1 T A 15: 38,490,646 (GRCm39) I436F probably benign Het
B3galnt2 T C 13: 14,166,107 (GRCm39) V334A probably damaging Het
Ccdc68 C T 18: 70,080,203 (GRCm39) H183Y probably benign Het
Cd180 TA TAA 13: 102,841,514 (GRCm39) probably null Het
Cemip A T 7: 83,606,833 (GRCm39) W795R probably damaging Het
Cenpj C T 14: 56,802,176 (GRCm39) E130K possibly damaging Het
Ciao1 G C 2: 127,089,062 (GRCm39) C52W probably damaging Het
Cmya5 A G 13: 93,232,176 (GRCm39) S971P possibly damaging Het
Cnot2 A T 10: 116,384,960 (GRCm39) L9* probably null Het
Coro1c G T 5: 114,003,747 (GRCm39) H91N probably damaging Het
Crbn A T 6: 106,777,017 (GRCm39) M1K probably null Het
Ctsb T A 14: 63,373,112 (GRCm39) W90R probably damaging Het
Ctse A G 1: 131,595,862 (GRCm39) I185V probably damaging Het
Dennd1b G T 1: 138,981,100 (GRCm39) E105* probably null Het
Eif4a3l1 A G 6: 136,306,141 (GRCm39) I201V possibly damaging Het
Exoc5 G A 14: 49,251,710 (GRCm39) Q679* probably null Het
Firrm A T 1: 163,794,659 (GRCm39) W512R probably damaging Het
Gabrg3 G A 7: 56,374,268 (GRCm39) R433C probably damaging Het
Gria2 C A 3: 80,709,689 (GRCm39) M1I probably null Het
H1f6 T C 13: 23,880,029 (GRCm39) S61P probably damaging Het
Hoxb6 A T 11: 96,191,645 (GRCm39) Q189L probably damaging Het
Hoxd10 A G 2: 74,524,600 (GRCm39) N304S possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Htra4 A T 8: 25,528,557 (GRCm39) C112S probably damaging Het
Ide T C 19: 37,261,598 (GRCm39) T715A Het
Ipo13 A T 4: 117,758,801 (GRCm39) I688N probably damaging Het
Irs2 A C 8: 11,057,400 (GRCm39) L344R probably damaging Het
Kat6a A G 8: 23,429,987 (GRCm39) T1781A unknown Het
Lin7a G T 10: 107,247,844 (GRCm39) V172L probably damaging Het
Lpcat1 G T 13: 73,653,650 (GRCm39) E282D probably damaging Het
Mcf2l A G 8: 13,063,584 (GRCm39) T963A probably benign Het
Mfsd14a G A 3: 116,439,118 (GRCm39) A128V probably benign Het
Mfsd6 C G 1: 52,747,903 (GRCm39) G321R probably damaging Het
Mill2 C T 7: 18,590,475 (GRCm39) T185I probably damaging Het
Mpped1 C T 15: 83,738,673 (GRCm39) T270I possibly damaging Het
Mrtfb G T 16: 13,230,185 (GRCm39) A957S possibly damaging Het
Myh9 T A 15: 77,675,017 (GRCm39) Y300F possibly damaging Het
Nlrp2 T A 7: 5,304,052 (GRCm39) T953S possibly damaging Het
Nlrp4e T A 7: 23,020,799 (GRCm39) S429T probably benign Het
Nphp3 T A 9: 103,913,376 (GRCm39) Y1003N probably damaging Het
Nrap T C 19: 56,310,339 (GRCm39) K1588R probably benign Het
Odad2 C A 18: 7,127,324 (GRCm39) R963L possibly damaging Het
Or10ag56 G A 2: 87,139,165 (GRCm39) V31I probably benign Het
Or5b124 T A 19: 13,611,414 (GRCm39) V313D probably damaging Het
Pam A G 1: 97,753,660 (GRCm39) V870A probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pierce1 C A 2: 28,352,390 (GRCm39) M124I probably damaging Het
Plin3 A T 17: 56,591,315 (GRCm39) V155E probably damaging Het
Pnpla7 G A 2: 24,873,503 (GRCm39) V170I probably damaging Het
Pramel34 A T 5: 93,784,089 (GRCm39) C458* probably null Het
Ptprz1 A G 6: 22,986,283 (GRCm39) H361R probably null Het
Pvalb T A 15: 78,086,767 (GRCm39) I50F possibly damaging Het
Relch A T 1: 105,614,709 (GRCm39) I218F possibly damaging Het
Rhag G A 17: 41,142,081 (GRCm39) A175T probably damaging Het
Slc24a4 T C 12: 102,200,983 (GRCm39) V291A possibly damaging Het
Slc9b2 G A 3: 135,042,295 (GRCm39) E525K probably benign Het
Smg7 A G 1: 152,720,971 (GRCm39) F747S possibly damaging Het
Sorcs1 T G 19: 50,141,300 (GRCm39) I1144L probably benign Het
Sox1 A T 8: 12,447,390 (GRCm39) I344F possibly damaging Het
Speer4e2 A T 5: 15,027,718 (GRCm39) S53T probably benign Het
Spta1 A T 1: 174,067,750 (GRCm39) E2059V probably damaging Het
Sva T A 6: 42,017,050 (GRCm39) N52K possibly damaging Het
Sva T A 6: 42,017,052 (GRCm39) M53K probably benign Het
Thsd7b A G 1: 129,849,027 (GRCm39) Y913C probably damaging Het
Tiam1 A G 16: 89,634,719 (GRCm39) S864P possibly damaging Het
Tma16 A G 8: 66,936,779 (GRCm39) V16A probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Treml1 A G 17: 48,673,774 (GRCm39) S262G probably benign Het
Ttn A T 2: 76,597,797 (GRCm39) D19705E probably benign Het
Utp20 A G 10: 88,594,239 (GRCm39) L2162P possibly damaging Het
Vmn2r60 A G 7: 41,791,723 (GRCm39) I549V possibly damaging Het
Xpo4 T C 14: 57,851,156 (GRCm39) N329S probably benign Het
Zfp879 T A 11: 50,723,886 (GRCm39) H390L probably damaging Het
Zranb1 C T 7: 132,583,117 (GRCm39) S512F probably damaging Het
Zswim8 A G 14: 20,766,393 (GRCm39) H847R 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
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
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'- AGCCTAATTGCTCCATCGC -3'
(R):5'- CTTGGACTTGAATGAGGAGCGG -3'

Sequencing Primer
(F):5'- CGGAATGGAAACTTCCCCGAC -3'
(R):5'- GCTCAGCTGCGGATCGG -3'
Posted On 2022-08-17