Mutagenetix > Incidental Mutation

Incidental Mutation 'R3158:Prss52'

263599

Institutional Source

Beutler Lab

Gene Symbol

Prss52

Ensembl Gene

ENSMUSG00000021966

Gene Name

serine protease 52

Synonyms

1700049K14Rik

MMRRC Submission

040609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64341772-64351200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64350992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 259 (W259L)

Ref Sequence

ENSEMBL: ENSMUSP00000022537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022537]

AlphaFold

Q9D9M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022537
AA Change: W259L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022537
Gene: ENSMUSG00000021966
AA Change: W259L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Tryp_SPc	55	282	1.13e-73	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225122

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc2	A	T	11: 101,220,102 (GRCm39)	N696I	probably damaging	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cd300e	A	C	11: 114,952,849 (GRCm39)	M1R	probably null	Het
Cep95	A	G	11: 106,700,013 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
Clca4b	C	A	3: 144,617,878 (GRCm39)	V742L	probably benign	Het
Diaph3	A	T	14: 86,893,892 (GRCm39)	I39N	possibly damaging	Het
Dll3	A	T	7: 27,993,520 (GRCm39)	D566E	possibly damaging	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
E330034G19Rik	A	T	14: 24,346,965 (GRCm39)	Y84F	possibly damaging	Het
Eya1	G	A	1: 14,374,691 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,944,940 (GRCm39)	T1278A	possibly damaging	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gm20939	T	A	17: 95,184,721 (GRCm39)	H456Q	probably damaging	Het
Gm7853	A	G	14: 35,811,358 (GRCm39)		noncoding transcript	Het
Hsd3b5	G	A	3: 98,529,375 (GRCm39)	A85V	probably benign	Het
Itga11	A	G	9: 62,676,560 (GRCm39)	K916R	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt6a	T	C	15: 101,599,801 (GRCm39)	Y437C	probably damaging	Het
Lrp5	A	G	19: 3,665,849 (GRCm39)	S707P	probably damaging	Het
Med14	G	A	X: 12,550,330 (GRCm39)		probably benign	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,168,637 (GRCm39)	H950R	probably damaging	Het
Myo1g	G	T	11: 6,464,527 (GRCm39)	T511K	possibly damaging	Het
Myo7a	A	G	7: 97,701,499 (GRCm39)	F2154S	probably damaging	Het
Or11h4	A	G	14: 50,974,271 (GRCm39)	V116A	probably benign	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or8h8	C	T	2: 86,752,950 (GRCm39)	E309K	probably benign	Het
Sbk2	G	A	7: 4,960,526 (GRCm39)	R215*	probably null	Het
Sectm1a	A	G	11: 120,959,603 (GRCm39)	I175T	probably benign	Het
Smu1	T	A	4: 40,754,529 (GRCm39)	R123S	possibly damaging	Het
Stk3	A	G	15: 35,008,387 (GRCm39)	S178P	possibly damaging	Het
Tle6	T	C	10: 81,431,038 (GRCm39)		probably null	Het
Vmn2r37	C	T	7: 9,220,713 (GRCm39)	M383I	probably benign	Het

Other mutations in Prss52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02898:Prss52	APN	14	64,351,115 (GRCm39)	missense	possibly damaging	0.84
R0021:Prss52	UTSW	14	64,341,857 (GRCm39)	missense	probably benign
R0271:Prss52	UTSW	14	64,351,127 (GRCm39)	missense	probably benign	0.23
R0480:Prss52	UTSW	14	64,351,093 (GRCm39)	missense	probably damaging	0.99
R1770:Prss52	UTSW	14	64,351,082 (GRCm39)	missense	probably damaging	0.96
R2216:Prss52	UTSW	14	64,351,042 (GRCm39)	missense	probably damaging	1.00
R3157:Prss52	UTSW	14	64,350,992 (GRCm39)	missense	probably damaging	1.00
R5613:Prss52	UTSW	14	64,346,951 (GRCm39)	missense	possibly damaging	0.76
R7049:Prss52	UTSW	14	64,350,021 (GRCm39)	missense	probably damaging	1.00
R7529:Prss52	UTSW	14	64,347,037 (GRCm39)	missense	probably benign	0.02
R8425:Prss52	UTSW	14	64,350,009 (GRCm39)	nonsense	probably null
R9482:Prss52	UTSW	14	64,351,129 (GRCm39)	missense	probably damaging	0.98
RF012:Prss52	UTSW	14	64,350,922 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACTGCCATGGTAGGAACC -3'
(R):5'- GGCAGTCTCACGTTTAATCATCAG -3'

Sequencing Primer
(F):5'- GCCATGGTAGGAACCCTTCAGTAC -3'
(R):5'- GTCTCACGTTTAATCATCAGGTTAG -3'

Posted On

2015-02-05