Mutagenetix > Incidental Mutation

Incidental Mutation 'R0477:Tmprss5'

41856

Institutional Source

Beutler Lab

Gene Symbol

Tmprss5

Ensembl Gene

ENSMUSG00000032268

Gene Name

transmembrane protease, serine 5 (spinesin)

Synonyms

spinesin

MMRRC Submission

038677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0477 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

49013994-49028891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49026465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 383 (D383G)

Ref Sequence

ENSEMBL: ENSMUSP00000129482 (fasta)

Gene Model

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

AlphaFold

Q9ER04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070390
AA Change: D389G

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: D389G

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

possibly damaging
Transcript: ENSMUST00000165088
AA Change: D399G

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: D399G

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 benign
Transcript: ENSMUST00000167095
AA Change: D325G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
AA Change: D325G

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

possibly damaging
Transcript: ENSMUST00000170246
AA Change: D383G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: D383G

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

Meta Mutation Damage Score

0.8022

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

98% (57/58)

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. 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	T	11: 117,693,787 (GRCm39)	I85F	probably benign	Het
Abca8a	T	A	11: 109,956,051 (GRCm39)	I778L	probably benign	Het
Abcc5	T	C	16: 20,187,319 (GRCm39)	N889S	possibly damaging	Het
Abcc5	T	C	16: 20,217,635 (GRCm39)	N359D	probably damaging	Het
Adam23	A	G	1: 63,596,559 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,832,366 (GRCm39)	D913E	probably benign	Het
Ap1b1	G	T	11: 4,981,787 (GRCm39)	C538F	probably benign	Het
Ash1l	T	A	3: 88,890,766 (GRCm39)	S882T	probably benign	Het
C9	A	T	15: 6,487,664 (GRCm39)	E43D	probably benign	Het
Cacna2d1	T	C	5: 16,399,796 (GRCm39)		probably null	Het
Ces2a	A	G	8: 105,464,169 (GRCm39)	E267G	probably damaging	Het
Cfap61	A	G	2: 145,781,836 (GRCm39)	D23G	probably damaging	Het
Col9a3	T	G	2: 180,251,263 (GRCm39)		probably benign	Het
Cstl1	T	C	2: 148,592,908 (GRCm39)	V21A	probably benign	Het
Cth	A	T	3: 157,610,812 (GRCm39)	L340Q	probably damaging	Het
Dnah8	T	A	17: 30,974,054 (GRCm39)	M2813K	probably damaging	Het
Fam107a	A	T	14: 8,301,168 (GRCm38)	Y21N	probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fer1l4	A	G	2: 155,894,806 (GRCm39)	V21A	probably benign	Het
Foxc2	A	T	8: 121,844,774 (GRCm39)	Y474F	probably damaging	Het
Hnf4g	G	T	3: 3,716,851 (GRCm39)		probably benign	Het
Hnrnpll	T	C	17: 80,369,261 (GRCm39)	D54G	unknown	Het
Hydin	A	G	8: 111,145,130 (GRCm39)	Y827C	probably damaging	Het
Il23r	A	G	6: 67,429,361 (GRCm39)	V327A	probably benign	Het
Itih4	T	A	14: 30,611,631 (GRCm39)	V118D	probably damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,376,268 (GRCm39)	D1546G	possibly damaging	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Map1a	T	C	2: 121,132,582 (GRCm39)	S895P	probably damaging	Het
Mdn1	A	C	4: 32,750,928 (GRCm39)	E4487A	probably benign	Het
Myo15a	T	C	11: 60,411,740 (GRCm39)		probably null	Het
Nlrp4f	C	A	13: 65,338,720 (GRCm39)	R639L	probably benign	Het
Or4f52	A	G	2: 111,062,009 (GRCm39)	F43S	probably benign	Het
Or8h10	T	A	2: 86,808,567 (GRCm39)	D191V	probably damaging	Het
Pcdh9	T	C	14: 94,125,114 (GRCm39)	N229S	probably damaging	Het
Pcnx2	A	G	8: 126,488,306 (GRCm39)	V1746A	probably damaging	Het
Phf12	A	T	11: 77,913,896 (GRCm39)	H446L	possibly damaging	Het
Phlpp2	A	G	8: 110,622,138 (GRCm39)		probably null	Het
Psmb9	A	C	17: 34,401,238 (GRCm39)	V207G	probably damaging	Het
Ptprh	C	A	7: 4,600,997 (GRCm39)	D127Y	possibly damaging	Het
Rabep1	T	G	11: 70,811,733 (GRCm39)	M535R	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,110,515 (GRCm39)	D711G	probably damaging	Het
Slfn4	T	C	11: 83,079,507 (GRCm39)	I6T	probably benign	Het
Sos1	T	A	17: 80,742,363 (GRCm39)	E388V	possibly damaging	Het
Spag5	A	C	11: 78,205,024 (GRCm39)	Q603P	probably damaging	Het
Supv3l1	G	T	10: 62,266,364 (GRCm39)	T604N	probably damaging	Het
Tbx5	A	G	5: 120,021,184 (GRCm39)	S397G	possibly damaging	Het
Trim43b	A	G	9: 88,972,654 (GRCm39)	W167R	probably damaging	Het
Unc80	A	T	1: 66,609,160 (GRCm39)	D1283V	probably damaging	Het
Upf1	A	T	8: 70,786,730 (GRCm39)	V918D	probably benign	Het
Vmn2r100	A	G	17: 19,742,776 (GRCm39)	I383M	probably benign	Het
Zc3h3	G	T	15: 75,648,932 (GRCm39)	S733R	possibly damaging	Het
Zcchc2	C	T	1: 105,958,000 (GRCm39)	P426S	possibly damaging	Het
Zkscan7	A	G	9: 122,719,874 (GRCm39)		probably null	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
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
R5819:Tmprss5	UTSW	9	49,025,779 (GRCm39)	splice site	probably null
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'- TTGTCCTTTGGCCCAGGTCCATAG -3'
(R):5'- TGGAGCAGCACCAGTCTACCATAAG -3'

Sequencing Primer
(F):5'- TGTCCTGAGGAGCTATGACTC -3'
(R):5'- CTACCATAAGGAATGAATTCTCCTGG -3'

Posted On

2013-05-23