Mutagenetix > Incidental Mutations

Incidental Mutation 'R7954:Prss58'

649715

Institutional Source

Beutler Lab

Gene Symbol

Prss58

Ensembl Gene

ENSMUSG00000051936

Gene Name

protease, serine 58

Synonyms

BC048599

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40895270-40900387 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40895609 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 188 (R188G)

Ref Sequence

ENSEMBL: ENSMUSP00000069833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063523] [ENSMUST00000103262]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063523
AA Change: R188G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: R188G

Domain	Start	End	E-Value	Type
Tryp_SPc	22	234	4.49e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103262

SMART Domains

Protein: ENSMUSP00000100078
Gene: ENSMUSG00000076461

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:V-set	22	116	8.4e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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 trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,012,343	C409Y	possibly damaging	Het
Acsm2	C	T	7: 119,580,729	T390I	probably damaging	Het
Adam20	T	C	8: 40,796,544	Y564H	probably damaging	Het
Adcy6	A	G	15: 98,596,892		probably null	Het
Alms1	T	C	6: 85,621,162	V990A	probably damaging	Het
Anapc2	T	A	2: 25,274,700	V318E	probably damaging	Het
Ano6	G	T	15: 95,965,821	A741S	possibly damaging	Het
Apc	A	G	18: 34,314,268	S1406G	probably damaging	Het
Cfi	G	A	3: 129,868,585		probably null	Het
Clcn1	A	T	6: 42,286,691		probably benign	Het
Crygs	C	T	16: 22,805,332	R175H	probably damaging	Het
Dnmbp	A	T	19: 43,902,303	W342R	probably benign	Het
Dok5	T	A	2: 170,833,073		probably null	Het
Dusp27	C	T	1: 166,099,280	S921N	probably benign	Het
Eno3	T	C	11: 70,661,180	I284T	probably benign	Het
Ep400	T	C	5: 110,668,733	T2767A	possibly damaging	Het
Epb41l4b	A	G	4: 57,088,034	V162A	probably damaging	Het
Fam208a	T	C	14: 27,447,524		probably null	Het
Fat3	A	G	9: 15,998,412	I2098T	probably damaging	Het
Fbxl13	T	C	5: 21,543,769	N384S	probably benign	Het
Fbxo9	A	G	9: 78,101,544	L78P	probably benign	Het
Glis1	G	A	4: 107,619,657	R525H	possibly damaging	Het
Gpr15	T	G	16: 58,718,684	D14A	probably benign	Het
Gpr156	T	C	16: 37,987,558	I189T	probably damaging	Het
H6pd	T	C	4: 149,982,826	I376V	probably benign	Het
Hs6st3	T	C	14: 119,869,110	V310A	probably damaging	Het
Htr1b	A	G	9: 81,631,945	L203P	probably damaging	Het
Kif26b	A	T	1: 178,869,379	I531F	probably damaging	Het
Krtcap3	T	C	5: 31,252,671	L166P	probably damaging	Het
Lmod1	A	C	1: 135,325,056	D16A	probably damaging	Het
Lrp2	T	G	2: 69,503,523	N1458T	possibly damaging	Het
Mocs1	G	A	17: 49,454,771	G631E	possibly damaging	Het
Nop14	G	A	5: 34,650,385	P411L	probably benign	Het
Nr2f1	A	C	13: 78,189,994	D334E	probably damaging	Het
Olfr1043	A	G	2: 86,162,868	L27P	probably damaging	Het
Olfr470	T	C	7: 107,844,912	N274D	probably benign	Het
Paqr9	G	A	9: 95,560,628	V224M	probably damaging	Het
Pkd2l1	T	C	19: 44,154,212	T464A	probably benign	Het
Rapgef2	G	A	3: 79,070,147	R1150*	probably null	Het
Rgs22	A	C	15: 36,082,002	F653V	possibly damaging	Het
Spata2	T	C	2: 167,483,937	T321A	probably benign	Het
St3gal1	A	T	15: 67,112,573	F118I	probably damaging	Het
Tex35	C	T	1: 157,100,172	D143N	probably damaging	Het
Tll1	G	A	8: 64,118,534	T171I	probably damaging	Het
Tmem2	T	A	19: 21,792,900	I84N	probably damaging	Het
Umodl1	A	T	17: 30,986,387	Q652L	probably benign	Het
Usp54	A	G	14: 20,561,913	L945P	probably benign	Het
Vars	A	G	17: 35,015,984	H1263R	probably benign	Het
Vmn1r202	A	T	13: 22,501,701	M182K	probably benign	Het
Vmn1r78	T	A	7: 12,153,300	C279*	probably null	Het

Other mutations in Prss58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Prss58	APN	6	40895465	missense	probably damaging	1.00
IGL01108:Prss58	APN	6	40897344	missense	probably damaging	1.00
IGL01645:Prss58	APN	6	40897310	missense	probably damaging	0.98
R0032:Prss58	UTSW	6	40895699	missense	probably benign	0.00
R0032:Prss58	UTSW	6	40895699	missense	probably benign	0.00
R1622:Prss58	UTSW	6	40897314	missense	possibly damaging	0.84
R2511:Prss58	UTSW	6	40897800	missense	probably damaging	1.00
R4292:Prss58	UTSW	6	40897310	missense	probably damaging	0.98
R5093:Prss58	UTSW	6	40897817	missense	probably damaging	1.00
R5601:Prss58	UTSW	6	40897849	missense	possibly damaging	0.92
R5992:Prss58	UTSW	6	40897769	missense	probably damaging	1.00
R6806:Prss58	UTSW	6	40897732	missense	probably damaging	0.98
R7105:Prss58	UTSW	6	40897766	missense	probably damaging	1.00
R7136:Prss58	UTSW	6	40900053	critical splice donor site	probably null
R7344:Prss58	UTSW	6	40895465	missense	probably damaging	1.00
R7699:Prss58	UTSW	6	40895388	missense	probably damaging	1.00
R7700:Prss58	UTSW	6	40895388	missense	probably damaging	1.00
R8305:Prss58	UTSW	6	40895660	missense	probably benign	0.00
R8370:Prss58	UTSW	6	40895424	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCTCCTGTTGTGGGAGC -3'
(R):5'- CCTAAGGGGATGGACTTTTGC -3'

Sequencing Primer
(F):5'- CATGGTATCTTCAATCCAGGGCAAG -3'
(R):5'- GGATGGACTTTTGCATTATGACAAG -3'

Posted On

2020-09-15