Mutagenetix > Incidental Mutation

Incidental Mutation 'R9279:Prss8'

703501

Institutional Source

Beutler Lab

Gene Symbol

Prss8

Ensembl Gene

ENSMUSG00000030800

Gene Name

serine protease 8 (prostasin)

Synonyms

fr, mCAP1, 2410039E18Rik, CAP1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127524889-127529266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127527082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 55 (Q55H)

Ref Sequence

ENSEMBL: ENSMUSP00000032988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032988] [ENSMUST00000033070] [ENSMUST00000094026] [ENSMUST00000118755] [ENSMUST00000141385] [ENSMUST00000156152] [ENSMUST00000206124] [ENSMUST00000206568]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032988
AA Change: Q55H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800
AA Change: Q55H

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Tryp_SPc	44	281	3.55e-98	SMART
low complexity region	320	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033070

SMART Domains

Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
CHROMO	69	123	6.6e-8	SMART
Blast:PHD	177	214	4e-6	BLAST
Pfam:MOZ_SAS	235	412	5.7e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094026

SMART Domains

Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	47	287	3.75e-88	SMART
Pfam:Trypsin	325	556	1.2e-16	PFAM
Pfam:Trypsin	599	798	6.6e-20	PFAM
Pfam:DUF1986	607	707	1.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118755

SMART Domains

Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	47	287	3.75e-88	SMART
Pfam:Trypsin	325	545	9.7e-18	PFAM
Pfam:Trypsin	588	787	6.5e-20	PFAM
Pfam:DUF1986	590	696	8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141385

SMART Domains

Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	38	121	3e-44	BLAST
SCOP:d1eaxa_	45	126	7e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156152

SMART Domains

Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	2	44	1e-21	BLAST
Tryp_SPc	89	238	8.18e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000206124
AA Change: Q55H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206568

Meta Mutation Damage Score

0.0969

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]
PHENOTYPE: Nullizygous mutations result in impaired skin barrier function, dehydration, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	A	T	4: 139,044,079 (GRCm39)	H225L	possibly damaging	Het
Arhgap32	C	A	9: 32,168,655 (GRCm39)	H879Q	probably benign	Het
Axin2	A	G	11: 108,833,128 (GRCm39)	I438V	possibly damaging	Het
Btbd18	T	A	2: 84,491,920 (GRCm39)	C34S	probably damaging	Het
Carns1	G	T	19: 4,216,256 (GRCm39)	T642N	possibly damaging	Het
Casp8	T	C	1: 58,883,542 (GRCm39)	I283T	probably benign	Het
Ccdc136	T	A	6: 29,421,982 (GRCm39)		probably benign	Het
Ccnk	C	A	12: 108,161,946 (GRCm39)	Q284K	unknown	Het
Ceacam12	T	A	7: 17,801,177 (GRCm39)	L52H	probably damaging	Het
Cit	G	A	5: 116,065,970 (GRCm39)	D540N	probably damaging	Het
Cntnap1	T	C	11: 101,072,121 (GRCm39)	V458A	probably damaging	Het
Col6a5	T	A	9: 105,758,976 (GRCm39)	I2077F	probably damaging	Het
Dnah2	T	C	11: 69,409,104 (GRCm39)	K425E	probably benign	Het
Eya2	A	G	2: 165,529,631 (GRCm39)	S125G	probably benign	Het
Gabrg1	T	G	5: 70,934,599 (GRCm39)	M260L	probably benign	Het
Greb1	T	C	12: 16,732,153 (GRCm39)	S1603G	probably damaging	Het
Isx	A	G	8: 75,600,434 (GRCm39)	T56A	probably benign	Het
Kif2b	A	T	11: 91,467,975 (GRCm39)	S103T	probably benign	Het
Krtap26-1	T	C	16: 88,444,342 (GRCm39)	H93R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mdm4	G	A	1: 132,924,416 (GRCm39)	T236M	probably damaging	Het
Mgat5	T	A	1: 127,325,348 (GRCm39)	L405Q	probably damaging	Het
Msantd1	A	G	5: 35,080,885 (GRCm39)	I272V	probably benign	Het
Ocstamp	A	G	2: 165,237,768 (GRCm39)	*499Q	probably null	Het
Or11h6	A	G	14: 50,880,493 (GRCm39)	K252E	possibly damaging	Het
Or1e16	G	A	11: 73,279,789 (GRCm39)	P21L	probably benign	Het
Or2n1d	G	A	17: 38,646,414 (GRCm39)	R122Q	probably damaging	Het
Or4c100	A	G	2: 88,356,211 (GRCm39)	M95V	probably benign	Het
Or5b12	A	T	19: 12,897,309 (GRCm39)	Y121*	probably null	Het
Pcdh15	T	A	10: 74,461,756 (GRCm39)		probably benign	Het
Pkdrej	C	T	15: 85,700,834 (GRCm39)	G1701S	probably damaging	Het
Ppp1r9a	A	G	6: 5,113,757 (GRCm39)	T754A	probably damaging	Het
Psg20	G	T	7: 18,416,670 (GRCm39)	R149S	probably benign	Het
Ptprz1	T	G	6: 23,002,444 (GRCm39)	N1511K	probably benign	Het
Rbbp8nl	C	T	2: 179,920,894 (GRCm39)		probably null	Het
Sgk2	A	G	2: 162,854,975 (GRCm39)	D362G	probably benign	Het
Sim1	T	C	10: 50,859,796 (GRCm39)	Y553H	probably damaging	Het
Sipa1l2	T	C	8: 126,208,896 (GRCm39)	D504G	probably damaging	Het
Smad7	T	C	18: 75,502,547 (GRCm39)	V174A	possibly damaging	Het
Smarcc1	T	A	9: 109,996,792 (GRCm39)	N303K	possibly damaging	Het
Snai3	T	C	8: 123,183,038 (GRCm39)	H169R	possibly damaging	Het
Tecpr2	T	A	12: 110,895,505 (GRCm39)	S331T	possibly damaging	Het
Tenm2	G	A	11: 35,959,303 (GRCm39)	T1082I	probably benign	Het
Tle4	A	T	19: 14,429,890 (GRCm39)	I627N	probably damaging	Het
Tnxb	A	T	17: 34,898,088 (GRCm39)	N912I	possibly damaging	Het
Ube2q2l	A	G	6: 136,377,978 (GRCm39)	V284A	probably damaging	Het
Vmn1r238	A	T	18: 3,122,994 (GRCm39)	V140E	probably damaging	Het
Vmn1r65	G	A	7: 6,011,988 (GRCm39)	T82I	probably benign	Het
Vps13b	A	G	15: 35,572,290 (GRCm39)	K969R	probably damaging	Het
Zfp943	A	G	17: 22,209,832 (GRCm39)	R35G	possibly damaging	Het

Other mutations in Prss8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:Prss8	APN	7	127,525,752 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Prss8	UTSW	7	127,521,424 (GRCm39)	unclassified	probably benign
R0326:Prss8	UTSW	7	127,526,348 (GRCm39)	missense	probably benign	0.17
R0786:Prss8	UTSW	7	127,525,646 (GRCm39)	missense	probably benign	0.03
R1381:Prss8	UTSW	7	127,529,021 (GRCm39)	small deletion	probably benign
R1919:Prss8	UTSW	7	127,529,030 (GRCm39)	missense	probably benign	0.32
R2074:Prss8	UTSW	7	127,526,266 (GRCm39)	missense	possibly damaging	0.64
R2075:Prss8	UTSW	7	127,526,266 (GRCm39)	missense	possibly damaging	0.64
R4492:Prss8	UTSW	7	127,528,979 (GRCm39)	missense	probably damaging	0.98
R4989:Prss8	UTSW	7	127,525,635 (GRCm39)	missense	probably benign	0.02
R7286:Prss8	UTSW	7	127,526,056 (GRCm39)	missense	probably damaging	1.00
R7322:Prss8	UTSW	7	127,528,735 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGACTGACCCATGACATAC -3'
(R):5'- AGTATGAGTGCACTTCCCAGG -3'

Sequencing Primer
(F):5'- CCAGGCTGGCCTTAAATTTACGATG -3'
(R):5'- TGCACTTCCCAGGCTCTGAAAG -3'

Posted On

2022-03-25