Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01935:Tmprss2'

180606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmprss2

Ensembl Gene

ENSMUSG00000000385

Gene Name

transmembrane protease, serine 2

Synonyms

D16Ertd61e, epitheliasin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01935

Quality Score

Status

Chromosome

Chromosomal Location

97365882-97412395 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 97379795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 48 (Y48*)

Ref Sequence

ENSEMBL: ENSMUSP00000156007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000395] [ENSMUST00000231544]

AlphaFold

Q9JIQ8

Predicted Effect

probably null
Transcript: ENSMUST00000000395
AA Change: Y168*

SMART Domains

Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: Y168*

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

probably null
Transcript: ENSMUST00000231544
AA Change: Y48*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231908

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,583,383 (GRCm39)		probably benign	Het
Akr1c12	A	T	13: 4,322,244 (GRCm39)	V266E	probably damaging	Het
Arhgef1	A	G	7: 24,621,307 (GRCm39)	T186A	probably damaging	Het
Atp8b5	A	G	4: 43,366,638 (GRCm39)	T801A	probably benign	Het
Card11	T	A	5: 140,869,301 (GRCm39)	I832F	possibly damaging	Het
Catsperg1	T	C	7: 28,895,296 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,906,889 (GRCm39)	T455A	possibly damaging	Het
Cfhr1	T	A	1: 139,478,740 (GRCm39)	Y210F	probably benign	Het
Chrna5	T	C	9: 54,912,127 (GRCm39)	V309A	probably benign	Het
Clstn2	A	G	9: 97,345,521 (GRCm39)	V609A	probably damaging	Het
Dnah6	T	C	6: 73,037,126 (GRCm39)	D3372G	probably benign	Het
Dtymk	T	C	1: 93,722,465 (GRCm39)	K113E	probably benign	Het
Eef2k	T	C	7: 120,485,054 (GRCm39)	F307S	probably damaging	Het
Flnc	T	A	6: 29,454,279 (GRCm39)	V1864E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Herc2	A	G	7: 55,803,541 (GRCm39)	Y2192C	probably benign	Het
Hkdc1	A	T	10: 62,236,165 (GRCm39)	V459E	probably damaging	Het
Iqsec3	T	C	6: 121,360,951 (GRCm39)	D969G	probably damaging	Het
Irf3	A	G	7: 44,650,194 (GRCm39)	T237A	probably benign	Het
Jade2	G	A	11: 51,719,211 (GRCm39)	T245I	possibly damaging	Het
Kctd8	A	G	5: 69,497,707 (GRCm39)	I313T	possibly damaging	Het
Kdm5a	T	A	6: 120,385,284 (GRCm39)	S835R	probably benign	Het
Lama2	A	C	10: 27,298,600 (GRCm39)	H165Q	probably damaging	Het
Lrp1b	T	A	2: 41,158,367 (GRCm39)	N1617Y	probably damaging	Het
Mcc	C	T	18: 44,652,583 (GRCm39)		probably null	Het
Mfsd14b	T	A	13: 65,215,739 (GRCm39)	M405L	probably benign	Het
Myom3	T	A	4: 135,515,692 (GRCm39)	F794I	probably damaging	Het
Napsa	G	T	7: 44,236,046 (GRCm39)	A362S	probably benign	Het
Ncf4	A	T	15: 78,140,186 (GRCm39)	D195V	probably damaging	Het
Or11g1	T	C	14: 50,651,012 (GRCm39)	F4L	probably benign	Het
Pank4	T	G	4: 155,063,987 (GRCm39)	D659E	probably damaging	Het
Pcnx1	T	A	12: 81,964,590 (GRCm39)	D252E	probably benign	Het
Pglyrp2	G	A	17: 32,637,551 (GRCm39)	A159V	probably benign	Het
Phaf1	T	C	8: 105,966,633 (GRCm39)	F127L	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,674 (GRCm39)	S627P	probably benign	Het
Ppp1r15b	T	C	1: 133,059,761 (GRCm39)	F93L	probably benign	Het
Pramel13	C	T	4: 144,119,172 (GRCm39)		probably benign	Het
Qrfpr	A	T	3: 36,235,200 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,064,467 (GRCm39)	T623K	probably benign	Het
Rapgef6	A	G	11: 54,501,668 (GRCm39)	T184A	possibly damaging	Het
Ssrp1	T	C	2: 84,877,056 (GRCm39)	*709Q	probably null	Het
St7	T	G	6: 17,930,822 (GRCm39)	I442S	probably damaging	Het
Syne2	T	A	12: 75,972,087 (GRCm39)	H992Q	probably damaging	Het
Syt14	T	C	1: 192,615,679 (GRCm39)	R436G	probably damaging	Het
Tbc1d5	A	G	17: 51,270,793 (GRCm39)		probably benign	Het
Thsd7a	T	A	6: 12,317,418 (GRCm39)	N1630I	probably damaging	Het
Tinagl1	T	C	4: 130,061,794 (GRCm39)	K180R	probably damaging	Het
Tmed7	T	C	18: 46,730,190 (GRCm39)	T54A	probably benign	Het
Tns2	C	T	15: 102,020,069 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,960,577 (GRCm39)	M496V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zbtb39	A	G	10: 127,578,235 (GRCm39)	T270A	probably benign	Het
Zfr	T	C	15: 12,180,798 (GRCm39)	S976P	probably benign	Het
Zscan29	A	G	2: 121,000,538 (GRCm39)	F23S	probably damaging	Het

Other mutations in Tmprss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1930:Tmprss2	UTSW	16	97,370,262 (GRCm39)	missense	probably benign	0.17
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

Posted On

2014-05-07