Mutagenetix > Incidental Mutation

Incidental Mutation 'R5819:Tmprss5'

449228

Institutional Source

Beutler Lab

Gene Symbol

Tmprss5

Ensembl Gene

ENSMUSG00000032268

Gene Name

transmembrane protease, serine 5 (spinesin)

Synonyms

spinesin

MMRRC Submission

043399-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5819 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

49013994-49028891 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 49025779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070390] [ENSMUST00000070390] [ENSMUST00000165088] [ENSMUST00000166272] [ENSMUST00000167095] [ENSMUST00000167095] [ENSMUST00000170246] [ENSMUST00000170246]

AlphaFold

Q9ER04

Predicted Effect

probably null
Transcript: ENSMUST00000070390

SMART Domains

Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:SRCR_2	106	203	4.2e-38	PFAM
Tryp_SPc	207	438	1.28e-90	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000070390

SMART Domains

Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:SRCR_2	106	203	4.2e-38	PFAM
Tryp_SPc	207	438	1.28e-90	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165088

SMART Domains

Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:SRCR_2	116	213	2.9e-38	PFAM
Tryp_SPc	217	448	1.28e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166272

SMART Domains

Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167095

SMART Domains

Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
Pfam:SRCR_2	42	139	1.1e-38	PFAM
Tryp_SPc	143	374	1.28e-90	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167095

SMART Domains

Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
Pfam:SRCR_2	42	139	1.1e-38	PFAM
Tryp_SPc	143	374	1.28e-90	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170246

SMART Domains

Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:SRCR_2	100	197	1.4e-38	PFAM
Tryp_SPc	201	432	1.28e-90	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170246

SMART Domains

Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:SRCR_2	100	197	1.4e-38	PFAM
Tryp_SPc	201	432	1.28e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170426

SMART Domains

Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
Pfam:SRCR_2	7	84	3.4e-28	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,930,630 (GRCm39)	I1376F	probably damaging	Het
Aggf1	T	C	13: 95,488,129 (GRCm39)	N673D	possibly damaging	Het
Avil	T	C	10: 126,845,867 (GRCm39)	F372S	probably damaging	Het
Bltp1	A	T	3: 37,102,749 (GRCm39)	M4863L	probably benign	Het
Bod1l	T	A	5: 41,989,948 (GRCm39)	E258D	probably benign	Het
Chek1	T	A	9: 36,621,701 (GRCm39)	H420L	probably benign	Het
Cyfip1	A	G	7: 55,528,899 (GRCm39)	I260M	probably damaging	Het
Dclk1	G	A	3: 55,397,285 (GRCm39)	V524I	probably damaging	Het
Efr3b	T	C	12: 4,042,965 (GRCm39)	M102V	probably benign	Het
Erc2	T	A	14: 27,863,326 (GRCm39)	I517N	probably damaging	Het
Fubp1	T	C	3: 151,926,190 (GRCm39)	I305T	probably damaging	Het
Galc	T	A	12: 98,182,520 (GRCm39)	D443V	probably benign	Het
Galnt4	T	A	10: 98,945,892 (GRCm39)	I539N	probably damaging	Het
Gm17093	G	T	14: 44,758,986 (GRCm39)	M169I	unknown	Het
Htra1	T	C	7: 130,583,469 (GRCm39)	F363S	probably damaging	Het
Itprid1	A	T	6: 55,874,876 (GRCm39)	K275N	probably benign	Het
Klhdc8b	G	A	9: 108,328,261 (GRCm39)	P64S	probably benign	Het
Kmt2c	A	G	5: 25,614,130 (GRCm39)		probably null	Het
Mettl21c	T	G	1: 44,048,882 (GRCm39)	K222Q	probably damaging	Het
Mga	A	C	2: 119,771,744 (GRCm39)	M1535L	possibly damaging	Het
Mov10	C	T	3: 104,708,828 (GRCm39)	G395D	probably damaging	Het
Ms4a10	C	A	19: 10,946,054 (GRCm39)	A26S	probably benign	Het
Mtcl3	A	T	10: 29,073,269 (GRCm39)	M854L	probably benign	Het
Naaladl1	A	G	19: 6,159,684 (GRCm39)	N372D	possibly damaging	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or4f52	A	T	2: 111,061,304 (GRCm39)	I278N	probably damaging	Het
Osmr	C	A	15: 6,845,268 (GRCm39)	V833L	probably benign	Het
Phf14	A	G	6: 11,997,251 (GRCm39)		probably null	Het
Pjvk	A	G	2: 76,488,713 (GRCm39)	I295V	probably benign	Het
Plppr4	T	A	3: 117,119,513 (GRCm39)	I299L	possibly damaging	Het
Prkg1	A	G	19: 31,563,072 (GRCm39)	S110P	probably benign	Het
Ptprq	T	A	10: 107,555,744 (GRCm39)		probably benign	Het
Rarb	T	G	14: 16,443,820 (GRCm38)	N156T	possibly damaging	Het
Rgl3	A	T	9: 21,892,898 (GRCm39)		probably null	Het
Ruvbl1	A	C	6: 88,460,097 (GRCm39)		probably null	Het
S1pr1	G	T	3: 115,505,789 (GRCm39)	C268*	probably null	Het
Sbk3	T	C	7: 4,972,996 (GRCm39)	D58G	probably benign	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tas2r119	T	C	15: 32,177,452 (GRCm39)	L6P	probably damaging	Het
Tcp11	A	T	17: 28,288,210 (GRCm39)	F339L	probably damaging	Het
Tdpoz8	A	G	3: 92,981,039 (GRCm39)	Y19C	probably damaging	Het
Trnau1ap	A	G	4: 132,052,521 (GRCm39)		probably benign	Het
Trp53bp1	G	A	2: 121,038,873 (GRCm39)	R1397*	probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn2r13	T	A	5: 109,321,966 (GRCm39)	M244L	possibly damaging	Het
Zfp777	C	T	6: 48,014,522 (GRCm39)	E395K	probably damaging	Het
Zfyve27	A	G	19: 42,171,935 (GRCm39)	S156G	probably benign	Het

Other mutations in Tmprss5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Tmprss5	APN	9	49,020,757 (GRCm39)	makesense	probably null
IGL02705:Tmprss5	APN	9	49,018,447 (GRCm39)	missense	probably benign	0.19
IGL03072:Tmprss5	APN	9	49,020,318 (GRCm39)	missense	possibly damaging	0.68
IGL03107:Tmprss5	APN	9	49,024,528 (GRCm39)	missense	possibly damaging	0.78
PIT4366001:Tmprss5	UTSW	9	49,023,517 (GRCm39)	missense	probably benign	0.24
R0207:Tmprss5	UTSW	9	49,024,460 (GRCm39)	missense	possibly damaging	0.88
R0477:Tmprss5	UTSW	9	49,026,465 (GRCm39)	missense	possibly damaging	0.94
R1542:Tmprss5	UTSW	9	49,020,434 (GRCm39)	missense	possibly damaging	0.81
R1819:Tmprss5	UTSW	9	49,018,464 (GRCm39)	missense	probably benign	0.09
R2395:Tmprss5	UTSW	9	49,026,435 (GRCm39)	nonsense	probably null
R4600:Tmprss5	UTSW	9	49,024,548 (GRCm39)	missense	possibly damaging	0.67
R4967:Tmprss5	UTSW	9	49,026,817 (GRCm39)	missense	probably damaging	0.98
R7266:Tmprss5	UTSW	9	49,025,841 (GRCm39)	missense	probably benign
R7876:Tmprss5	UTSW	9	49,020,391 (GRCm39)	missense	probably benign	0.10
R8354:Tmprss5	UTSW	9	49,018,439 (GRCm39)	missense	possibly damaging	0.74
R8995:Tmprss5	UTSW	9	49,025,894 (GRCm39)	critical splice donor site	probably null
Z1177:Tmprss5	UTSW	9	49,026,455 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACTGCCCACCTCTAGAG -3'
(R):5'- AGGCGCCATTGTCAGAAGAC -3'

Sequencing Primer
(F):5'- TCTAGAGGGTGCCATACTGTCAC -3'
(R):5'- CCATTGTCAGAAGACCAGGG -3'

Posted On

2016-12-20