Mutagenetix > Incidental Mutation

Incidental Mutation 'R0395:Tmprss2'

31989

Institutional Source

Beutler Lab

Gene Symbol

Tmprss2

Ensembl Gene

ENSMUSG00000000385

Gene Name

transmembrane protease, serine 2

Synonyms

D16Ertd61e, epitheliasin

MMRRC Submission

038601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0395 (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 97368245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 480 (D480G)

Ref Sequence

ENSEMBL: ENSMUSP00000000395 (fasta)

Gene Model

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

AlphaFold

Q9JIQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000000395
AA Change: D480G

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

SMART Domains

Protein: ENSMUSP00000000395
Gene: ENSMUSG00000000385
AA Change: D480G

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

Meta Mutation Damage Score

0.6265

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

98% (103/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,837,470 (GRCm39)	K205R	possibly damaging	Het
9630041A04Rik	A	T	9: 101,819,934 (GRCm39)	N118I	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,765 (GRCm39)	V408A	probably benign	Het
Acsm2	G	A	7: 119,174,969 (GRCm39)	D245N	probably damaging	Het
Adgrv1	A	T	13: 81,534,072 (GRCm39)	H5836Q	probably benign	Het
Ahcyl2	T	C	6: 29,886,167 (GRCm39)	V391A	probably damaging	Het
Alcam	A	T	16: 52,130,227 (GRCm39)	M41K	probably benign	Het
Aldh3b3	A	C	19: 4,016,472 (GRCm39)	E363D	probably benign	Het
Alk	A	G	17: 72,910,526 (GRCm39)	V60A	probably damaging	Het
Als2cl	G	A	9: 110,727,152 (GRCm39)	R906H	probably damaging	Het
Ap5z1	T	C	5: 142,456,317 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,393,156 (GRCm39)	I547N	probably benign	Het
Apol10b	A	T	15: 77,469,840 (GRCm39)	D112E	probably damaging	Het
Ash1l	C	A	3: 88,965,896 (GRCm39)	R2433S	probably damaging	Het
Cachd1	T	C	4: 100,810,402 (GRCm39)	F335L	probably damaging	Het
Cbfa2t3	G	T	8: 123,365,690 (GRCm39)	Q181K	probably benign	Het
Cct6b	A	G	11: 82,630,506 (GRCm39)	M265T	probably benign	Het
Cd151	G	A	7: 141,050,304 (GRCm39)	V180I	probably damaging	Het
Ces1h	T	A	8: 94,083,706 (GRCm39)	N412I	unknown	Het
Chmp7	T	C	14: 69,969,905 (GRCm39)	T12A	probably benign	Het
Clasp1	A	G	1: 118,467,061 (GRCm39)	T534A	possibly damaging	Het
Cldn15	T	A	5: 136,997,052 (GRCm39)	V31E	possibly damaging	Het
Col16a1	G	A	4: 129,966,902 (GRCm39)	G583D	probably damaging	Het
Csmd1	T	C	8: 16,396,652 (GRCm39)	N426S	probably damaging	Het
Dapp1	C	T	3: 137,641,398 (GRCm39)	C199Y	possibly damaging	Het
Dchs1	A	G	7: 105,407,745 (GRCm39)	L2029P	probably damaging	Het
Dmc1	A	G	15: 79,472,973 (GRCm39)	F158S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Dthd1	T	A	5: 62,971,676 (GRCm39)	N166K	possibly damaging	Het
Enam	A	T	5: 88,649,367 (GRCm39)	Y292F	probably damaging	Het
Esrrg	A	T	1: 187,930,832 (GRCm39)	I285F	probably damaging	Het
Fam50b	A	G	13: 34,931,220 (GRCm39)	D232G	probably damaging	Het
Fam91a1	T	A	15: 58,326,641 (GRCm39)	S792T	probably benign	Het
Fbxw22	A	C	9: 109,210,753 (GRCm39)	C419W	probably damaging	Het
Flt4	G	A	11: 49,521,170 (GRCm39)	S393N	probably benign	Het
Fras1	A	T	5: 96,917,512 (GRCm39)	T3511S	possibly damaging	Het
Frat2	A	C	19: 41,836,263 (GRCm39)	S30A	probably damaging	Het
Glp1r	T	A	17: 31,155,312 (GRCm39)	M433K	probably benign	Het
Gm10300	G	A	4: 131,802,299 (GRCm39)		probably benign	Het
Gpatch4	A	G	3: 87,961,661 (GRCm39)		probably benign	Het
Gpr22	A	T	12: 31,759,461 (GRCm39)	S220R	possibly damaging	Het
Grn	T	C	11: 102,327,049 (GRCm39)	V549A	probably benign	Het
Gtf3c5	T	C	2: 28,467,930 (GRCm39)	D177G	probably damaging	Het
Htr1b	A	T	9: 81,513,704 (GRCm39)	M301K	probably benign	Het
Ifi207	A	T	1: 173,557,431 (GRCm39)	S436T	possibly damaging	Het
Ifnb1	A	T	4: 88,440,766 (GRCm39)	N82K	possibly damaging	Het
Ina	T	G	19: 47,010,358 (GRCm39)	N384K	probably damaging	Het
Kirrel2	T	C	7: 30,149,883 (GRCm39)	N541D	possibly damaging	Het
Lrp2	A	T	2: 69,263,421 (GRCm39)	I4377N	possibly damaging	Het
Lrrc37a	A	G	11: 103,355,221 (GRCm39)	V2532A	unknown	Het
Mast4	T	C	13: 102,871,781 (GRCm39)	E2529G	probably damaging	Het
Myh6	T	C	14: 55,183,777 (GRCm39)	H1719R	possibly damaging	Het
Myo5a	A	T	9: 75,101,259 (GRCm39)	H150L	probably benign	Het
Naglu	C	T	11: 100,964,933 (GRCm39)		probably benign	Het
Nags	G	A	11: 102,036,530 (GRCm39)	A40T	unknown	Het
Nav1	G	T	1: 135,460,359 (GRCm39)	Y321*	probably null	Het
Nav1	A	T	1: 135,460,361 (GRCm39)	Y321N	probably damaging	Het
Neu3	C	T	7: 99,462,985 (GRCm39)	S246N	probably benign	Het
Npy5r	C	T	8: 67,134,625 (GRCm39)	G56D	probably benign	Het
Nrxn1	A	G	17: 91,395,742 (GRCm39)	V138A	possibly damaging	Het
Nuggc	C	T	14: 65,850,921 (GRCm39)	Q264*	probably null	Het
Ogfod1	G	A	8: 94,790,156 (GRCm39)		probably null	Het
Or1o11	T	A	17: 37,756,757 (GRCm39)	F115Y	probably damaging	Het
Or2t45	A	T	11: 58,669,195 (GRCm39)	M81L	probably benign	Het
Or5b101	A	G	19: 13,005,663 (GRCm39)	F10S	probably damaging	Het
Or5p66	A	G	7: 107,885,478 (GRCm39)	V285A	probably benign	Het
Per1	T	A	11: 68,993,103 (GRCm39)	I340N	probably damaging	Het
Pkhd1	C	T	1: 20,451,771 (GRCm39)	A2175T	probably benign	Het
Pogk	A	G	1: 166,231,171 (GRCm39)	V52A	probably damaging	Het
Pou2af3	C	T	9: 51,191,834 (GRCm39)		probably benign	Het
Ppib	A	T	9: 65,973,601 (GRCm39)	T185S	possibly damaging	Het
Ptar1	G	T	19: 23,697,563 (GRCm39)	M358I	probably damaging	Het
Qser1	A	C	2: 104,593,226 (GRCm39)	I1597S	probably damaging	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Repin1	C	A	6: 48,574,459 (GRCm39)	R460S	probably damaging	Het
Sfmbt1	T	C	14: 30,509,574 (GRCm39)		probably benign	Het
Sh3rf1	C	T	8: 61,846,696 (GRCm39)		probably benign	Het
Shroom3	C	T	5: 92,928,762 (GRCm39)	R106C	probably damaging	Het
Siglecf	T	A	7: 43,005,399 (GRCm39)	V453D	probably damaging	Het
Slc2a9	A	G	5: 38,610,512 (GRCm39)	S96P	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Slf1	A	G	13: 77,254,088 (GRCm39)		probably benign	Het
Smad1	T	G	8: 80,076,411 (GRCm39)	K269T	probably benign	Het
Srp54b	G	A	12: 55,296,884 (GRCm39)	R194H	probably damaging	Het
St8sia6	T	A	2: 13,670,247 (GRCm39)	S238C	probably damaging	Het
Stat3	A	T	11: 100,780,763 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,429,497 (GRCm39)	H37L	probably benign	Het
Tas1r2	T	A	4: 139,382,665 (GRCm39)	M101K	possibly damaging	Het
Tesc	A	G	5: 118,191,647 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,317,353 (GRCm39)	M334K	probably damaging	Het
Tmem151a	A	T	19: 5,132,261 (GRCm39)	V315E	probably damaging	Het
Trmt1	C	A	8: 85,423,741 (GRCm39)		probably null	Het
Tsr3	T	C	17: 25,461,198 (GRCm39)		probably null	Het
Ube2u	A	G	4: 100,338,845 (GRCm39)	K37E	probably benign	Het
Usp16	T	A	16: 87,272,334 (GRCm39)	D382E	probably damaging	Het
Usp9y	A	T	Y: 1,340,053 (GRCm39)	F1442Y	probably damaging	Het
Utp20	A	T	10: 88,654,457 (GRCm39)	M210K	probably damaging	Het
Utp25	T	C	1: 192,805,984 (GRCm39)	E187G	possibly damaging	Het
V1ra8	C	T	6: 90,179,991 (GRCm39)	L65F	possibly damaging	Het
Vmn2r10	T	C	5: 109,149,859 (GRCm39)	N395S	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp330	G	A	8: 83,491,511 (GRCm39)	Q221*	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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCCAGTAAGGTTGACACTGC -3'
(R):5'- ACCATTACCACCTTCAGGGGAGAC -3'

Sequencing Primer
(F):5'- AGTAAGGTTGACACTGCCTCTC -3'
(R):5'- CTTCAGGGGAGACATATCCATAC -3'

Posted On

2013-04-24