Mutagenetix > Incidental Mutations

Incidental Mutation 'R1335:Prss51'

156852

Institutional Source

Beutler Lab

Gene Symbol

Prss51

Ensembl Gene

ENSMUSG00000052099

Gene Name

protease, serine 51

Synonyms

1700007N14Rik

MMRRC Submission

039400-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R1335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64086234-64097678 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 64096171 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063785] [ENSMUST00000063785] [ENSMUST00000165710] [ENSMUST00000165710] [ENSMUST00000170709] [ENSMUST00000224112]

Predicted Effect

probably null
Transcript: ENSMUST00000063785

SMART Domains

Protein: ENSMUSP00000066111
Gene: ENSMUSG00000052099

Domain	Start	End	E-Value	Type
Tryp_SPc	5	171	3.93e-9	SMART
low complexity region	181	195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000063785

SMART Domains

Protein: ENSMUSP00000066111
Gene: ENSMUSG00000052099

Domain	Start	End	E-Value	Type
Tryp_SPc	5	171	3.93e-9	SMART
low complexity region	181	195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000165710

SMART Domains

Protein: ENSMUSP00000132814
Gene: ENSMUSG00000052099

Domain	Start	End	E-Value	Type
Tryp_SPc	9	189	2.09e-13	SMART
low complexity region	199	213	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000165710

SMART Domains

Protein: ENSMUSP00000132814
Gene: ENSMUSG00000052099

Domain	Start	End	E-Value	Type
Tryp_SPc	9	189	2.09e-13	SMART
low complexity region	199	213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166038

Predicted Effect

probably null
Transcript: ENSMUST00000170709

SMART Domains

Protein: ENSMUSP00000126778
Gene: ENSMUSG00000052099

Domain	Start	End	E-Value	Type
Pfam:Trypsin	2	94	2e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000224112

Meta Mutation Damage Score

0.9362

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Bid	C	T	6: 120,897,255	A110T	possibly damaging	Het
Cd209d	T	A	8: 3,872,027	D185V	probably damaging	Het
Cdc42bpb	T	C	12: 111,296,441	Y1484C	probably damaging	Het
Cdh9	T	C	15: 16,850,792	V549A	probably benign	Het
Cmya5	C	T	13: 93,041,535	V3604M	possibly damaging	Het
Eprs	T	A	1: 185,387,089	W489R	probably damaging	Het
Galnt14	T	A	17: 73,526,290	I230F	probably damaging	Het
Gm19965	A	G	1: 116,804,619	K64R	possibly damaging	Het
Gpr141	T	G	13: 19,751,864	Y247S	possibly damaging	Het
Ivd	A	T	2: 118,869,442	H52L	probably benign	Het
Marc1	C	T	1: 184,803,941	R98Q	probably benign	Het
Mcoln2	A	G	3: 146,180,174	H260R	probably benign	Het
Mdga2	T	C	12: 66,716,742		probably null	Het
Ndrg3	T	C	2: 156,946,008		probably benign	Het
Olfr166	T	C	16: 19,487,053	Y72H	probably benign	Het
Pcdhb17	A	T	18: 37,486,234	N359I	probably damaging	Het
Phf24	G	A	4: 42,934,657	V98I	probably benign	Het
Pkhd1	C	A	1: 20,571,405	G270W	probably damaging	Het
Pkhd1l1	G	A	15: 44,505,547	V863I	probably damaging	Het
Scarb2	C	T	5: 92,451,346		probably null	Het
Simc1	ACCA	ACCANNNNNNNNNNNNNNNNNNCCA	13: 54,525,265		probably benign	Het
Slco1c1	T	A	6: 141,542,127	Y192N	probably damaging	Het
Smco2	T	C	6: 146,862,087		probably benign	Het
Snx13	A	G	12: 35,132,124	D724G	probably benign	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Sytl4	GAAAAAA	GAAAAA	X: 133,961,126		probably benign	Het
Tnr	A	G	1: 159,868,030	T508A	probably benign	Het
Vmn1r30	A	G	6: 58,435,095	S251P	probably damaging	Het
Zdhhc16	T	A	19: 41,940,634		probably null	Het

Other mutations in Prss51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Prss51	APN	14	64095984	missense	probably damaging	1.00
PIT4354001:Prss51	UTSW	14	64097097	missense	probably damaging	0.99
R0453:Prss51	UTSW	14	64097139	missense	probably damaging	1.00
R1479:Prss51	UTSW	14	64096170	critical splice donor site	probably null
R3753:Prss51	UTSW	14	64096175	splice site	probably benign
R5384:Prss51	UTSW	14	64097094	missense	probably damaging	0.99
R5385:Prss51	UTSW	14	64097094	missense	probably damaging	0.99
R5386:Prss51	UTSW	14	64097094	missense	probably damaging	0.99
R6522:Prss51	UTSW	14	64097406	missense	possibly damaging	0.90
R6722:Prss51	UTSW	14	64095059	missense	probably damaging	0.99
R6908:Prss51	UTSW	14	64096152	missense	probably benign	0.00
R6919:Prss51	UTSW	14	64097488	missense	probably damaging	1.00
R7220:Prss51	UTSW	14	64095995	nonsense	probably null
R7510:Prss51	UTSW	14	64096040	missense	probably damaging	1.00
R7711:Prss51	UTSW	14	64097488	missense	probably damaging	1.00
R7753:Prss51	UTSW	14	64095927	missense	possibly damaging	0.86
X0024:Prss51	UTSW	14	64097466	missense	probably damaging	1.00
Z1177:Prss51	UTSW	14	64094941	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CACCCACCACCATTGTCAGCTATTG -3'
(R):5'- AACTGAGGGGCATTGCTGTCGTTC -3'

Sequencing Primer
(F):5'- CCTCAGATTAGAACTGGTAGCAGTC -3'
(R):5'- TTTTGCTCAGCAGAGGGCAA -3'

Posted On

2014-02-11