Incidental Mutation 'R9228:Pmepa1'
ID 731356
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 # R9228 (G1)
Quality Score 79.0103
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 100% (87/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810037I17Rik G A 3: 122,718,274 (GRCm39) A56T probably benign Het
4930438A08Rik A T 11: 58,178,296 (GRCm39) I119F Het
Abca12 A T 1: 71,332,599 (GRCm39) I1254N probably damaging Het
Abcb11 G T 2: 69,138,809 (GRCm39) Y157* probably null Het
Adcy7 G A 8: 89,044,675 (GRCm39) probably null Het
Adnp A G 2: 168,026,798 (GRCm39) Y166H probably damaging Het
Adprhl1 A G 8: 13,275,279 (GRCm39) V493A probably benign Het
Ahctf1 T C 1: 179,611,685 (GRCm39) T562A probably benign Het
Amotl1 T A 9: 14,504,320 (GRCm39) N296I possibly damaging Het
Ankar A G 1: 72,713,210 (GRCm39) V693A probably benign Het
Ankrd16 T C 2: 11,786,318 (GRCm39) V189A probably benign Het
Bmp1 A G 14: 70,757,338 (GRCm39) L47P probably benign Het
Cacna2d4 A G 6: 119,248,476 (GRCm39) D429G probably benign Het
Cadps2 T A 6: 23,688,927 (GRCm39) E127D probably benign Het
Cd109 A T 9: 78,577,042 (GRCm39) I580F possibly damaging Het
Cdrt4 T A 11: 62,842,124 (GRCm39) I2N unknown Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Chuk A T 19: 44,095,789 (GRCm39) W15R probably damaging Het
Cpvl C T 6: 53,951,779 (GRCm39) M1I probably null Het
Cyfip1 A G 7: 55,549,758 (GRCm39) M642V probably damaging Het
Dhh T A 15: 98,795,757 (GRCm39) R133* probably null Het
Dnmt3b G A 2: 153,507,980 (GRCm39) V212M probably benign Het
Dync2li1 A G 17: 84,957,137 (GRCm39) S301G probably benign Het
Epas1 A C 17: 87,133,990 (GRCm39) I500L possibly damaging Het
Ephb4 A T 5: 137,352,824 (GRCm39) I136F possibly damaging Het
Foxg1 T C 12: 49,431,320 (GRCm39) F18L unknown Het
Frem1 T C 4: 82,920,057 (GRCm39) E432G probably damaging Het
Gpld1 A T 13: 25,136,900 (GRCm39) S73C probably damaging Het
Hddc3 A G 7: 79,993,328 (GRCm39) I52V probably benign Het
Hmgcll1 A T 9: 75,991,732 (GRCm39) T252S probably damaging Het
Igsf10 G A 3: 59,243,843 (GRCm39) R164W probably damaging Het
Jph2 A G 2: 163,180,606 (GRCm39) V675A probably benign Het
Kifap3 T C 1: 163,689,666 (GRCm39) F550S probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Kplce C T 3: 92,775,951 (GRCm39) G244D probably benign Het
L1td1 T C 4: 98,625,932 (GRCm39) V643A possibly damaging Het
L3mbtl3 C T 10: 26,212,155 (GRCm39) M255I unknown Het
Layn T A 9: 50,968,837 (GRCm39) D302V probably damaging Het
Lpcat4 A G 2: 112,072,418 (GRCm39) I136V possibly damaging Het
Lrp1 T A 10: 127,382,807 (GRCm39) D3658V probably damaging Het
Metap1d T C 2: 71,352,900 (GRCm39) L243S possibly damaging Het
Midn T A 10: 79,990,275 (GRCm39) H315Q probably damaging Het
Mtrex A T 13: 113,050,888 (GRCm39) probably null Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myh2 T C 11: 67,077,522 (GRCm39) S886P probably benign Het
Nemf T C 12: 69,388,093 (GRCm39) I396V probably damaging Het
Nemp1 T G 10: 127,525,227 (GRCm39) V127G possibly damaging Het
Nkx3-1 C T 14: 69,428,227 (GRCm39) T25M possibly damaging Het
Nmral1 A C 16: 4,531,631 (GRCm39) L208R probably damaging Het
Nol6 A T 4: 41,116,422 (GRCm39) I989N probably benign Het
Or12e7 T A 2: 87,287,907 (GRCm39) C133S possibly damaging Het
Palld A T 8: 62,173,571 (GRCm39) S363T probably damaging Het
Pcdha11 A G 18: 37,144,512 (GRCm39) D201G probably damaging Het
Per2 A G 1: 91,366,081 (GRCm39) C339R probably damaging Het
Phactr4 T C 4: 132,097,874 (GRCm39) T455A possibly damaging Het
Phc2 T C 4: 128,617,062 (GRCm39) I445T probably damaging Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ppp2r5e T A 12: 75,640,063 (GRCm39) K13* probably null Het
Ptafr T C 4: 132,306,613 (GRCm39) M1T probably null Het
Rbms1 G A 2: 60,610,087 (GRCm39) P208S probably benign Het
Scg3 T A 9: 75,558,955 (GRCm39) I419F probably damaging Het
Scn1a T C 2: 66,130,099 (GRCm39) T219A probably benign Het
Sec14l4 A G 11: 3,989,977 (GRCm39) D92G probably damaging Het
Senp3 G T 11: 69,569,085 (GRCm39) Q359K probably damaging Het
Sirt1 T C 10: 63,172,857 (GRCm39) D142G probably damaging Het
Skint2 T C 4: 112,483,039 (GRCm39) M148T possibly damaging Het
Slc30a10 T A 1: 185,187,391 (GRCm39) M44K probably damaging Het
Snai2 T A 16: 14,524,792 (GRCm39) D99E probably damaging Het
Spg7 A G 8: 123,807,408 (GRCm39) K395E possibly damaging Het
Sphk2 G A 7: 45,360,337 (GRCm39) H556Y possibly damaging Het
Supt6 A C 11: 78,116,612 (GRCm39) F637L probably benign Het
Tcam1 A G 11: 106,177,292 (GRCm39) N428S probably damaging Het
Tctn3 C T 19: 40,596,692 (GRCm39) R276K probably benign Het
Timm29 G A 9: 21,504,656 (GRCm39) R108H probably damaging Het
Tlr9 A T 9: 106,102,752 (GRCm39) E681V possibly damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tns3 T C 11: 8,400,094 (GRCm39) K1169E probably damaging Het
Trim72 A C 7: 127,608,315 (GRCm39) D271A possibly damaging Het
Trpv4 A T 5: 114,772,622 (GRCm39) D369E probably benign Het
Ttn A G 2: 76,583,192 (GRCm39) L22567P probably damaging Het
Uimc1 G A 13: 55,223,652 (GRCm39) P207S probably damaging Het
Unc5d A T 8: 29,165,448 (GRCm39) V781E probably damaging Het
Upk3bl C T 5: 136,086,076 (GRCm39) P4L unknown Het
Vmn1r201 A G 13: 22,659,670 (GRCm39) N295D probably benign Het
Vmn2r69 A G 7: 85,064,697 (GRCm39) I63T probably benign Het
Zfyve28 T C 5: 34,374,788 (GRCm39) T409A 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
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'- AGCCTAATTGCTCCATCGCC -3'
(R):5'- CCTTGGACTTGAATGAGGAGCG -3'

Sequencing Primer
(F):5'- CGGAATGGAAACTTCCCCGAC -3'
(R):5'- GCTCAGCTGCGGATCGG -3'
Posted On 2022-11-08