Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:Tmprss2'

94315

Institutional Source

Beutler Lab

Gene Symbol

Tmprss2

Ensembl Gene

ENSMUSG00000000385

Gene Name

transmembrane protease, serine 2

Synonyms

D16Ertd61e, epitheliasin

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97365882-97412395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97377462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 212 (N212D)

Ref Sequence

ENSEMBL: ENSMUSP00000000395 (fasta)

Gene Model

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

AlphaFold

Q9JIQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000000395
AA Change: N212D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: N212D

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 benign
Transcript: ENSMUST00000231544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231908

Meta Mutation Damage Score

0.1917

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,210,724 (GRCm39)	V168A	possibly damaging	Het
A1cf	C	A	19: 31,909,919 (GRCm39)	T237N	probably benign	Het
Actl10	A	T	2: 154,394,588 (GRCm39)	Q180L	probably benign	Het
Adcy1	T	C	11: 7,059,075 (GRCm39)	L327P	probably damaging	Het
Adcy7	T	C	8: 89,044,685 (GRCm39)		probably benign	Het
Ahctf1	G	A	1: 179,591,051 (GRCm39)	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,927,455 (GRCm39)	Q122*	probably null	Het
Apob	G	A	12: 8,044,963 (GRCm39)	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,624,425 (GRCm39)	T539P	probably benign	Het
Cd244a	T	A	1: 171,404,844 (GRCm39)	V232E	probably damaging	Het
Chia1	A	C	3: 106,038,199 (GRCm39)	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,768,500 (GRCm39)	Q5*	probably null	Het
Clrn1	T	A	3: 58,772,531 (GRCm39)	I117F	probably benign	Het
Csmd3	A	G	15: 47,744,933 (GRCm39)	L1354P	probably damaging	Het
Csn2	G	A	5: 87,842,596 (GRCm39)	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,286,593 (GRCm39)	M172K	probably damaging	Het
Dnah9	A	T	11: 66,050,837 (GRCm39)	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,922,864 (GRCm39)	S82T	probably benign	Het
Ebf1	A	G	11: 44,523,602 (GRCm39)	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,718,038 (GRCm39)	R504S	probably damaging	Het
Gpank1	T	A	17: 35,343,284 (GRCm39)	S255T	probably damaging	Het
Greb1	T	C	12: 16,732,252 (GRCm39)	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,292,478 (GRCm39)	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,863,270 (GRCm39)	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ilrun	T	C	17: 27,986,910 (GRCm39)	N272S	probably damaging	Het
Khdrbs2	A	T	1: 32,683,238 (GRCm39)		probably benign	Het
Lix1l	G	T	3: 96,528,626 (GRCm39)	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,755,114 (GRCm39)	N141S	probably damaging	Het
Marchf11	A	T	15: 26,309,748 (GRCm39)	D134V	probably damaging	Het
Myo9a	A	T	9: 59,762,653 (GRCm39)	T795S	probably benign	Het
Nhsl1	T	A	10: 18,401,223 (GRCm39)	D782E	probably benign	Het
Nptxr	T	C	15: 79,674,456 (GRCm39)		probably benign	Het
Nrp1	A	G	8: 129,195,079 (GRCm39)	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or12e7	ATTGCTACTC	A	2: 87,287,781 (GRCm39)		probably benign	Het
Or5b3	G	A	19: 13,388,754 (GRCm39)	A274T	probably benign	Het
Pard3	T	C	8: 128,104,761 (GRCm39)	F267S	probably benign	Het
Pomt2	G	A	12: 87,194,254 (GRCm39)	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,104,137 (GRCm39)	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,382,080 (GRCm39)	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,193,558 (GRCm39)	V591D	probably damaging	Het
Sall3	A	C	18: 81,013,007 (GRCm39)	M1143R	probably benign	Het
Scgb1b19	G	T	7: 32,986,768 (GRCm39)	A13S	unknown	Het
Scn1a	T	C	2: 66,168,340 (GRCm39)	T89A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr42e1	T	G	8: 118,390,323 (GRCm39)	N106T	probably damaging	Het
Shpk	A	T	11: 73,105,945 (GRCm39)	M266L	probably benign	Het
Slc34a1	G	T	13: 55,550,846 (GRCm39)	R139L	probably benign	Het
Smbd1	C	A	16: 32,627,088 (GRCm39)	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,301,485 (GRCm39)	N238S	probably benign	Het
Uap1	G	T	1: 169,984,480 (GRCm39)		probably benign	Het
Ugt1a6a	A	G	1: 88,066,736 (GRCm39)	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,477,326 (GRCm39)	W355*	probably null	Het
Vmn2r86	T	A	10: 130,282,226 (GRCm39)	S797C	probably damaging	Het
Wiz	A	G	17: 32,606,616 (GRCm39)	S40P	probably damaging	Het
Zfand6	A	G	7: 84,265,181 (GRCm39)		probably benign	Het
Zfp280d	G	A	9: 72,236,449 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TGTGAAACACTGCTTACCTCCACC -3'
(R):5'- GCTGATGGGAGACTCTAACCTTGC -3'

Sequencing Primer
(F):5'- TGCTTACCTCCACCCAAAACAG -3'
(R):5'- TGGACAATGGTTTTCAGACAGC -3'

Posted On

2014-01-05