Mutagenetix > Incidental Mutations

Incidental Mutation 'R3787:Pmepa1'

272296

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

040754-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173224458-173276533 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173228133 bp

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]

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,455,442	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,905,655	L177P	probably damaging	Het
Aprt	T	C	8: 122,575,529	D65G	probably benign	Het
Auh	C	A	13: 52,929,457	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,385,714		probably null	Het
Bptf	C	A	11: 107,073,827	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,496,976	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,299,298	R72H	probably benign	Het
Ccdc138	T	C	10: 58,538,270	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,408,998	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,133,668	V352A	probably damaging	Het
D5Ertd577e	T	A	5: 95,482,897	L211Q	probably damaging	Het
Dennd3	T	C	15: 73,547,577	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,865,122	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,369,878	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,755,041	D2800G	probably damaging	Het
Dnaja2	C	T	8: 85,540,386	G281R	probably damaging	Het
Exo1	A	G	1: 175,899,469	T449A	probably benign	Het
Fancd2	T	G	6: 113,565,204	S770A	probably damaging	Het
Fmo1	A	T	1: 162,830,014	S519R	possibly damaging	Het
Fryl	T	C	5: 73,101,476	Y655C	probably benign	Het
Gpt2	G	T	8: 85,525,573	V506L	probably benign	Het
Heatr1	G	T	13: 12,434,460	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,647,686	L461P	probably damaging	Het
Magi2	C	T	5: 20,465,909	T580M	probably damaging	Het
Mcm9	A	G	10: 53,615,980	V415A	possibly damaging	Het
Mki67	A	T	7: 135,700,283	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,796,583		probably benign	Het
Mtpap	T	C	18: 4,380,670	V116A	probably damaging	Het
Myo15	A	T	11: 60,477,572	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,454,595	N148I	probably damaging	Het
Nfs1	A	G	2: 156,128,583	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,214,425	D26G	probably damaging	Het
Nsa2	G	T	13: 97,135,534	Q60K	possibly damaging	Het
Olfr61	G	A	7: 140,637,835	V45I	probably benign	Het
Olfr951	T	C	9: 39,394,382	V197A	probably benign	Het
Pde4dip	G	T	3: 97,715,552	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,643,934	T59A	probably benign	Het
Ppp1r12c	G	A	7: 4,486,584	A193V	probably damaging	Het
Prdm15	G	T	16: 97,797,745	H904Q	probably benign	Het
Rala	T	A	13: 17,882,446	E185V	probably benign	Het
Reep1	T	A	6: 71,795,215	D162E	probably damaging	Het
Rev3l	T	A	10: 39,846,210	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,296,014	S264T	probably benign	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sipa1l2	C	T	8: 125,423,205	A1602T	probably benign	Het
Sipa1l2	C	A	8: 125,450,383	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,528,139	L254I	possibly damaging	Het
Slc5a3	A	G	16: 92,077,928	N291S	possibly damaging	Het
Stab2	T	A	10: 86,969,277	D279V	possibly damaging	Het
Synrg	T	C	11: 84,001,920	F613S	probably damaging	Het
Tekt1	A	G	11: 72,344,894	I376T	probably damaging	Het
Thbs4	T	C	13: 92,773,164	N375S	probably benign	Het
Tro	G	A	X: 150,655,052	T203I	possibly damaging	Het
Txnl4b	C	T	8: 109,572,777	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,802,752	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,864,074	D382N	probably benign	Het
Wap	G	A	11: 6,638,550	Q25*	probably null	Het

Other mutations in Pmepa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1401:Pmepa1	UTSW	2	173228575	critical splice donor site	probably null
R1439:Pmepa1	UTSW	2	173228081	missense	probably benign	0.13
R1772:Pmepa1	UTSW	2	173234360	missense	probably damaging	1.00
R2228:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2229:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2380:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2381:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2382:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2385:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2386:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3783:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3784:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3785:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R4600:Pmepa1	UTSW	2	173228327	missense	possibly damaging	0.81
R5368:Pmepa1	UTSW	2	173228322	missense	probably damaging	1.00
R5982:Pmepa1	UTSW	2	173234312	missense	possibly damaging	0.82
R7371:Pmepa1	UTSW	2	173234419	missense	possibly damaging	0.73
R7640:Pmepa1	UTSW	2	173276163	missense	probably benign	0.02

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