Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Tmprss2'

215310

Institutional Source

Beutler Lab

Gene Symbol

Tmprss2

Ensembl Gene

ENSMUSG00000000385

Gene Name

transmembrane protease, serine 2

Synonyms

D16Ertd61e, epitheliasin

MMRRC Submission

039948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97365882-97412395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97370262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 301 (S301G)

Ref Sequence

ENSEMBL: ENSMUSP00000000395 (fasta)

Gene Model

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

AlphaFold

Q9JIQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000000395
AA Change: S301G

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: S301G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232599

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,540 (GRCm39)	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,450,519 (GRCm39)	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Ago2	A	T	15: 72,991,204 (GRCm39)	I578N	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Cep152	A	T	2: 125,460,291 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,683,563 (GRCm39)	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,219,014 (GRCm39)	W535*	probably null	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Daam2	A	T	17: 49,769,241 (GRCm39)		probably null	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,500,476 (GRCm39)	S91R	probably benign	Het
H2-Oa	A	T	17: 34,312,873 (GRCm39)	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 118,485,643 (GRCm39)	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Ice1	A	T	13: 70,753,202 (GRCm39)	S961R	probably benign	Het
Ift20	G	A	11: 78,430,830 (GRCm39)	V58I	possibly damaging	Het
Ippk	T	A	13: 49,603,494 (GRCm39)	F367I	probably damaging	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,154,383 (GRCm39)	N35K	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Magi3	A	T	3: 103,996,920 (GRCm39)	D208E	probably damaging	Het
Mc2r	T	A	18: 68,540,853 (GRCm39)	T147S	probably benign	Het
Mfsd4b1	C	A	10: 39,882,070 (GRCm39)	A72S	probably benign	Het
Msln	A	T	17: 25,970,896 (GRCm39)	N150K	probably damaging	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Or4c3	G	A	2: 89,851,505 (GRCm39)	R302C	probably benign	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Pcnx2	C	A	8: 126,614,453 (GRCm39)	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,366,733 (GRCm39)	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Scgb2b20	T	C	7: 33,065,621 (GRCm39)		probably null	Het
Sdr16c6	A	G	4: 4,058,809 (GRCm39)	V259A	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc51b	T	A	9: 65,322,478 (GRCm39)	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
Specc1l	A	G	10: 75,145,658 (GRCm39)	D1101G	probably damaging	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tdg	T	A	10: 82,477,378 (GRCm39)	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,066,717 (GRCm39)	F174L	probably damaging	Het
Ttn	C	T	2: 76,553,193 (GRCm39)	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp60	T	A	7: 27,436,382 (GRCm39)	M1K	probably null	Het

Other mutations in Tmprss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Tmprss2	APN	16	97,379,795 (GRCm39)	nonsense	probably null
IGL02130:Tmprss2	APN	16	97,392,089 (GRCm39)	missense	probably damaging	1.00
IGL02149:Tmprss2	APN	16	97,400,479 (GRCm39)	utr 5 prime	probably benign
IGL03080:Tmprss2	APN	16	97,398,044 (GRCm39)	missense	probably damaging	0.98
PIT4480001:Tmprss2	UTSW	16	97,400,460 (GRCm39)	missense	possibly damaging	0.77
R0395:Tmprss2	UTSW	16	97,368,245 (GRCm39)	missense	probably damaging	1.00
R0485:Tmprss2	UTSW	16	97,373,194 (GRCm39)	unclassified	probably benign
R1055:Tmprss2	UTSW	16	97,377,462 (GRCm39)	missense	probably damaging	1.00
R1080:Tmprss2	UTSW	16	97,392,698 (GRCm39)	missense	probably benign
R1405:Tmprss2	UTSW	16	97,398,005 (GRCm39)	missense	probably benign	0.00
R1405:Tmprss2	UTSW	16	97,398,005 (GRCm39)	missense	probably benign	0.00
R1931:Tmprss2	UTSW	16	97,370,262 (GRCm39)	missense	probably benign	0.17
R1955:Tmprss2	UTSW	16	97,368,377 (GRCm39)	critical splice acceptor site	probably null
R2443:Tmprss2	UTSW	16	97,369,703 (GRCm39)	missense	possibly damaging	0.65
R3825:Tmprss2	UTSW	16	97,398,021 (GRCm39)	missense	probably damaging	1.00
R4508:Tmprss2	UTSW	16	97,371,627 (GRCm39)	missense	probably damaging	1.00
R5212:Tmprss2	UTSW	16	97,377,492 (GRCm39)	missense	probably benign	0.00
R5571:Tmprss2	UTSW	16	97,392,071 (GRCm39)	missense	probably null	1.00
R5715:Tmprss2	UTSW	16	97,370,183 (GRCm39)	missense	possibly damaging	0.65
R6816:Tmprss2	UTSW	16	97,369,667 (GRCm39)	missense	possibly damaging	0.94
R6921:Tmprss2	UTSW	16	97,369,637 (GRCm39)	missense	probably damaging	0.98
R7230:Tmprss2	UTSW	16	97,379,797 (GRCm39)	missense	probably benign	0.02
R7311:Tmprss2	UTSW	16	97,369,616 (GRCm39)	missense	possibly damaging	0.94
R7788:Tmprss2	UTSW	16	97,377,429 (GRCm39)	nonsense	probably null
R8052:Tmprss2	UTSW	16	97,369,616 (GRCm39)	missense	probably damaging	1.00
R8329:Tmprss2	UTSW	16	97,369,665 (GRCm39)	missense	probably benign	0.01
R8511:Tmprss2	UTSW	16	97,369,662 (GRCm39)	missense	possibly damaging	0.94
R9234:Tmprss2	UTSW	16	97,379,821 (GRCm39)	missense	probably damaging	1.00
R9314:Tmprss2	UTSW	16	97,400,459 (GRCm39)	missense	probably benign	0.38
R9456:Tmprss2	UTSW	16	97,392,669 (GRCm39)	missense	probably benign
R9629:Tmprss2	UTSW	16	97,369,702 (GRCm39)	missense	probably benign	0.00
R9680:Tmprss2	UTSW	16	97,379,826 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmprss2	UTSW	16	97,368,257 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCATTAAAAGCCAAAGGTGTCTG -3'
(R):5'- AGAAAGGTGTCGCTCTATTTGTAG -3'

Sequencing Primer
(F):5'- CTGCAGCTTCATGAGAGCAATGTC -3'
(R):5'- ACAGAATCCTTGGGGAGCCATTC -3'

Posted On

2014-07-14