Mutagenetix > Incidental Mutations

Incidental Mutation 'R4324:Prss3'

323956

Institutional Source

Beutler Lab

Gene Symbol

Prss3

Ensembl Gene

ENSMUSG00000071519

Gene Name

protease, serine 3

Synonyms

TRY4, Tb, MTG, mesotrypsin, Try3

MMRRC Submission

041095-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41373814-41377678 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41373845 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 237 (D237A)

Ref Sequence

ENSEMBL: ENSMUSP00000093702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096003]

Predicted Effect

probably benign
Transcript: ENSMUST00000096003
AA Change: D237A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000093702
Gene: ENSMUSG00000071519
AA Change: D237A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Tryp_SPc	23	239	1.4e-105	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,507,905	D583G	probably benign	Het
Alg9	T	G	9: 50,805,343	H22Q	probably damaging	Het
Aqp6	G	A	15: 99,601,410	M1I	probably null	Het
Arhgef10	T	A	8: 14,940,335	I270N	possibly damaging	Het
Asb13	G	T	13: 3,645,012	R160L	possibly damaging	Het
Atg10	T	A	13: 91,040,966	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,205,832	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,947,509	E624G	probably damaging	Het
Cdan1	T	C	2: 120,724,979	I760M	probably damaging	Het
Cdk14	T	A	5: 5,036,532	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,353,614	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 47,712,173	S168R	probably benign	Het
Dnah17	C	T	11: 118,094,213	V1555M	probably benign	Het
Dsel	T	C	1: 111,861,393	T471A	probably damaging	Het
Dzank1	T	C	2: 144,488,698	E478G	possibly damaging	Het
Enc1	T	C	13: 97,245,897	F305S	probably benign	Het
Epn1	T	A	7: 5,097,211	M441K	probably benign	Het
Fbxw24	C	T	9: 109,604,945		probably null	Het
Gad1	G	A	2: 70,589,830	D353N	probably damaging	Het
Ggcx	A	G	6: 72,428,820	S545G	probably benign	Het
H2-K1	C	T	17: 34,000,040	V30M	possibly damaging	Het
Hipk3	C	A	2: 104,446,571	V388L	probably damaging	Het
Krt82	T	A	15: 101,541,747	M505L	probably benign	Het
Man2a1	A	G	17: 64,666,793	I355V	probably benign	Het
Olfr473	C	T	7: 107,933,693	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,763,343	R109*	probably null	Het
Pcgf1	T	C	6: 83,079,957		probably null	Het
Plekhm2	A	T	4: 141,631,857	V533E	possibly damaging	Het
Rnf125	G	A	18: 20,977,760	R25K	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Shc4	T	A	2: 125,678,750	M260L	probably benign	Het
Spag6l	T	C	16: 16,787,235	Y151C	probably benign	Het
Stac3	C	T	10: 127,503,249	P76S	probably damaging	Het
Trpc7	T	C	13: 56,887,356	I255V	probably damaging	Het
Ttn	T	C	2: 76,908,579	E3872G	probably benign	Het
Uqcrfs1	A	G	13: 30,541,158	V133A	probably benign	Het
Vmn2r52	T	A	7: 10,171,013	T300S	possibly damaging	Het
Wipi1	A	T	11: 109,603,836	I57N	possibly damaging	Het

Other mutations in Prss3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0535:Prss3	UTSW	6	41374969	missense	probably benign	0.26
R1583:Prss3	UTSW	6	41377627	start gained	probably benign
R4859:Prss3	UTSW	6	41373923	missense	probably damaging	0.96
R5004:Prss3	UTSW	6	41373902	missense	probably damaging	1.00
R5361:Prss3	UTSW	6	41373846	missense	probably benign	0.00
R5929:Prss3	UTSW	6	41376804	splice site	probably null
R6026:Prss3	UTSW	6	41377554	splice site	probably null
R6179:Prss3	UTSW	6	41375126	missense	probably benign	0.11
R7510:Prss3	UTSW	6	41375110	nonsense	probably null
R7514:Prss3	UTSW	6	41373914	missense	probably damaging	1.00
R8323:Prss3	UTSW	6	41374324	missense	probably damaging	1.00
R8463:Prss3	UTSW	6	41375125	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTCTTCAGAACCTTAAGTGAAGATAC -3'
(R):5'- CAGATGGGCTCTGGAGATAAAC -3'

Sequencing Primer
(F):5'- CATATGAACTCAAATGGAAGATAGCC -3'
(R):5'- TGGGCTCTGGAGATAAACAAATG -3'

Posted On

2015-06-24