Mutagenetix > Incidental Mutations

Incidental Mutation 'R7311:Tmprss2'

567629

Institutional Source

Beutler Lab

Gene Symbol

Tmprss2

Ensembl Gene

ENSMUSG00000000385

Gene Name

transmembrane protease, serine 2

Synonyms

epitheliasin, D16Ertd61e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7311 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97564682-97611195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97568416 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 386 (Y386F)

Ref Sequence

ENSEMBL: ENSMUSP00000000395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000395]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000395
AA Change: Y386F

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: Y386F

Domain	Start	End	E-Value	Type
transmembrane domain	86	108	N/A	INTRINSIC
LDLa	111	149	1e-9	SMART
SR	148	241	8.55e-10	SMART
Tryp_SPc	253	482	4.58e-92	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,668,750	V118A	probably benign	Het
2410089E03Rik	G	T	15: 8,180,915	V291F	probably damaging	Het
2810403A07Rik	T	C	3: 88,711,695	S569P	probably damaging	Het
Accsl	C	T	2: 93,865,815	G146D	possibly damaging	Het
Acsm1	A	T	7: 119,638,082	H206L	probably damaging	Het
Acta2	A	G	19: 34,241,786	Y339H	probably damaging	Het
Adcy2	T	C	13: 68,630,954	D989G	probably damaging	Het
Ahnak	G	A	19: 9,002,143	A264T	probably benign	Het
Ahnak	A	G	19: 9,009,827	D2825G	possibly damaging	Het
AI464131	A	G	4: 41,498,577	I351T	probably damaging	Het
Akt1	G	T	12: 112,657,153	T291K	probably damaging	Het
Arhgap24	A	G	5: 102,892,685	D589G	probably damaging	Het
B4galnt3	G	A	6: 120,215,435	Q447*	probably null	Het
BC024063	C	T	10: 82,110,159	R538C	possibly damaging	Het
Bod1l	A	G	5: 41,794,333	S2912P	possibly damaging	Het
Bysl	A	G	17: 47,601,785	V360A	possibly damaging	Het
C1qb	A	G	4: 136,880,566	V162A	possibly damaging	Het
Ccdc57	G	A	11: 120,873,741	P736L	probably benign	Het
Cep290	T	A	10: 100,537,718	F1287I	probably damaging	Het
Cntn1	T	C	15: 92,232,275		probably null	Het
Col6a3	C	T	1: 90,822,291	G274R	probably damaging	Het
Cyb5r4	T	C	9: 87,055,782	C285R	probably damaging	Het
Cyp4f39	G	A	17: 32,489,655	C392Y	probably damaging	Het
Dcun1d3	A	T	7: 119,859,511	D100E	probably damaging	Het
Dhx58	A	T	11: 100,698,171	D516E	probably benign	Het
Dock5	T	A	14: 67,828,502	I351F	probably benign	Het
Elmod2	A	C	8: 83,319,412		probably null	Het
Endov	G	A	11: 119,507,251	A281T	probably benign	Het
Epyc	A	G	10: 97,649,700	M1V	probably null	Het
Espnl	T	A	1: 91,323,568	H128Q	probably damaging	Het
Fam20a	A	T	11: 109,674,628	C452*	probably null	Het
Fam241b	A	G	10: 62,108,954	V88A	probably damaging	Het
Fgd3	A	T	13: 49,296,690	S28T	possibly damaging	Het
Fmn1	C	A	2: 113,525,680	P920Q	unknown	Het
Gpr139	G	C	7: 119,144,866	D165E	probably benign	Het
Hoxb1	A	G	11: 96,367,101	T286A	possibly damaging	Het
Ifi204	T	A	1: 173,759,568	E174D	probably benign	Het
Igf2bp2	A	G	16: 22,061,882	I555T	possibly damaging	Het
Ighv1-85	A	G	12: 116,000,179	I67T	probably damaging	Het
Ihh	G	C	1: 74,951,147	P23R	unknown	Het
Irx2	T	C	13: 72,631,277	S227P	probably damaging	Het
Itga4	A	G	2: 79,256,182	I68V	probably benign	Het
Jsrp1	T	A	10: 80,812,072	T51S	probably benign	Het
Kifc2	G	T	15: 76,662,810	G306V	probably damaging	Het
L3mbtl2	T	A	15: 81,667,387	S85T	possibly damaging	Het
Lama1	T	C	17: 67,767,385	S944P		Het
Lama4	T	A	10: 39,026,635	C202S	probably damaging	Het
Lrrc29	A	G	8: 105,315,667		probably benign	Het
Mkl2	T	A	16: 13,405,854	Y866*	probably null	Het
Morc3	G	A	16: 93,849,173	D218N	probably damaging	Het
N4bp2l1	G	A	5: 150,572,924	T179I	probably damaging	Het
Narf	A	G	11: 121,249,150	E270G	probably benign	Het
Nsd2	A	G	5: 33,892,036	D1205G	probably damaging	Het
Olfr235	T	C	19: 12,268,704	V158A	probably benign	Het
Olfr417	T	C	1: 174,369,193	V92A	probably benign	Het
Parl	T	C	16: 20,287,875	T195A	probably benign	Het
Phrf1	A	G	7: 141,240,933	I158V	unknown	Het
Phtf1	T	C	3: 103,997,664	F543L	possibly damaging	Het
Plod2	T	A	9: 92,584,558	D190E	probably damaging	Het
Polr1a	G	T	6: 71,950,879	K871N	possibly damaging	Het
Ppp2r5a	A	T	1: 191,357,801	I252K	probably damaging	Het
Ptgir	T	A	7: 16,907,048	D88E	probably damaging	Het
Raly	T	C	2: 154,857,420	V48A	probably damaging	Het
Ripor1	T	A	8: 105,617,815	L527*	probably null	Het
Rnf213	T	C	11: 119,416,547	S678P		Het
Rpf1	T	A	3: 146,507,163	Q306L	probably benign	Het
Rpl14	T	C	9: 120,574,105	I122T	probably damaging	Het
Scn9a	C	A	2: 66,484,404	A1657S	possibly damaging	Het
Serpinb10	A	G	1: 107,546,747	Y213C	probably damaging	Het
Slc25a23	A	G	17: 57,052,827	L308P	probably damaging	Het
Smg9	T	A	7: 24,420,633	M387K	probably benign	Het
Socs3	G	A	11: 117,967,788	P148L	probably benign	Het
Susd3	A	G	13: 49,248,430	L14P	probably benign	Het
Syt14	T	A	1: 192,980,550	M80L	probably benign	Het
Tmx3	T	A	18: 90,540,071	S416T	probably benign	Het
Treh	A	G	9: 44,685,948	T555A	probably benign	Het
Ttc5	T	G	14: 50,765,943	Q428P	probably damaging	Het
Vmn2r73	A	G	7: 85,871,984	S259P	possibly damaging	Het
Vps4b	A	T	1: 106,791,704	V38E	probably damaging	Het
Wdr83	C	A	8: 85,076,261	R177L	probably benign	Het
Zfp780b	A	G	7: 27,963,163	F656L	possibly damaging	Het
Zfp995	A	T	17: 21,880,660	F198I	probably benign	Het
Zswim8	A	T	14: 20,721,484	Y1495F	probably damaging	Het

Other mutations in Tmprss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Tmprss2	APN	16	97578595	nonsense	probably null
IGL02130:Tmprss2	APN	16	97590889	missense	probably damaging	1.00
IGL02149:Tmprss2	APN	16	97599279	utr 5 prime	probably benign
IGL03080:Tmprss2	APN	16	97596844	missense	probably damaging	0.98
PIT4480001:Tmprss2	UTSW	16	97599260	missense	possibly damaging	0.77
R0395:Tmprss2	UTSW	16	97567045	missense	probably damaging	1.00
R0485:Tmprss2	UTSW	16	97571994	unclassified	probably benign
R1055:Tmprss2	UTSW	16	97576262	missense	probably damaging	1.00
R1080:Tmprss2	UTSW	16	97591498	missense	probably benign
R1405:Tmprss2	UTSW	16	97596805	missense	probably benign	0.00
R1405:Tmprss2	UTSW	16	97596805	missense	probably benign	0.00
R1930:Tmprss2	UTSW	16	97569062	missense	probably benign	0.17
R1931:Tmprss2	UTSW	16	97569062	missense	probably benign	0.17
R1955:Tmprss2	UTSW	16	97567177	critical splice acceptor site	probably null
R2443:Tmprss2	UTSW	16	97568503	missense	possibly damaging	0.65
R3825:Tmprss2	UTSW	16	97596821	missense	probably damaging	1.00
R4508:Tmprss2	UTSW	16	97570427	missense	probably damaging	1.00
R5212:Tmprss2	UTSW	16	97576292	missense	probably benign	0.00
R5571:Tmprss2	UTSW	16	97590871	missense	probably null	1.00
R5715:Tmprss2	UTSW	16	97568983	missense	possibly damaging	0.65
R6816:Tmprss2	UTSW	16	97568467	missense	possibly damaging	0.94
R6921:Tmprss2	UTSW	16	97568437	missense	probably damaging	0.98
R7230:Tmprss2	UTSW	16	97578597	missense	probably benign	0.02
R7788:Tmprss2	UTSW	16	97576229	nonsense	probably null
R8052:Tmprss2	UTSW	16	97568416	missense	probably damaging	1.00
R8329:Tmprss2	UTSW	16	97568465	missense	probably benign	0.01
R8511:Tmprss2	UTSW	16	97568462	missense	possibly damaging	0.94
Z1176:Tmprss2	UTSW	16	97567057	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTCTCTTCCTATGTGCTAGGTAG -3'
(R):5'- AAGCTGCAGACACCTTTGGC -3'

Sequencing Primer
(F):5'- CCTATGTGCTAGGTAGGGTTAATTTG -3'
(R):5'- TTAATGGTACGTGAGACTCAGCCC -3'

Posted On

2019-06-26