Mutagenetix > Incidental Mutation

Incidental Mutation 'R9482:Prss52'

716322

Institutional Source

Beutler Lab

Gene Symbol

Prss52

Ensembl Gene

ENSMUSG00000021966

Gene Name

serine protease 52

Synonyms

1700049K14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9482 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64341772-64351200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64351129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 305 (L305F)

Ref Sequence

ENSEMBL: ENSMUSP00000022537 (fasta)

Gene Model

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

AlphaFold

Q9D9M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022537
AA Change: L305F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022537
Gene: ENSMUSG00000021966
AA Change: L305F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,307,423 (GRCm39)	V793A	probably benign	Het
Als2	G	T	1: 59,231,109 (GRCm39)	P834Q	probably damaging	Het
Alx1	T	C	10: 102,864,335 (GRCm39)	T45A	probably benign	Het
Angptl7	T	G	4: 148,584,575 (GRCm39)	S58R	possibly damaging	Het
Atg3	A	G	16: 44,979,481 (GRCm39)	T7A	probably benign	Het
Bpifc	A	T	10: 85,815,118 (GRCm39)	S283T	possibly damaging	Het
C2cd2l	T	A	9: 44,227,914 (GRCm39)	E231V	probably damaging	Het
Cdk5r2	T	C	1: 74,894,504 (GRCm39)	V83A	probably damaging	Het
Chst10	T	C	1: 38,907,116 (GRCm39)	E178G	probably damaging	Het
Crocc2	T	A	1: 93,143,106 (GRCm39)	L1236Q	probably benign	Het
Dleu7	T	C	14: 62,514,351 (GRCm39)	*210W	probably null	Het
Emc1	T	G	4: 139,088,201 (GRCm39)	V323G	probably damaging	Het
Fcrla	T	C	1: 170,745,949 (GRCm39)	T278A	probably benign	Het
Flrt3	T	C	2: 140,503,590 (GRCm39)	T13A	probably benign	Het
Galntl6	A	T	8: 58,310,549 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,305,186 (GRCm39)	V203A	possibly damaging	Het
Gm3149	T	A	14: 15,698,287 (GRCm39)	V169E	probably benign	Het
Hjurp	CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA	C	1: 88,193,996 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,610,281 (GRCm39)	S1463P	probably benign	Het
Irag1	A	T	7: 110,545,259 (GRCm39)	D12E	probably benign	Het
Jsrp1	A	T	10: 80,644,734 (GRCm39)	I224N	possibly damaging	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kcnma1	A	T	14: 23,441,033 (GRCm39)	M591K	probably benign	Het
Kmt2d	A	C	15: 98,763,046 (GRCm39)	W268G	probably damaging	Het
Knop1	A	G	7: 118,447,710 (GRCm39)	S417P	unknown	Het
Lpin3	T	C	2: 160,746,416 (GRCm39)	F692L	probably damaging	Het
Mycbp	T	C	4: 123,803,880 (GRCm39)	C130R	unknown	Het
Myh1	T	C	11: 67,108,745 (GRCm39)	I1387T	probably damaging	Het
Nbeal2	T	C	9: 110,463,066 (GRCm39)	D1333G	probably benign	Het
Nedd4l	G	T	18: 65,021,031 (GRCm39)		probably benign	Het
Nucks1	A	G	1: 131,846,744 (GRCm39)	N7D	probably benign	Het
Nup210	A	G	6: 91,019,608 (GRCm39)	I991T	probably damaging	Het
Or4a72	C	T	2: 89,405,953 (GRCm39)	G39D	probably damaging	Het
Pcdhb3	A	G	18: 37,434,736 (GRCm39)	D234G	probably damaging	Het
Phyh	C	T	2: 4,923,863 (GRCm39)		probably benign	Het
Pik3c2a	G	A	7: 115,961,289 (GRCm39)	T1070I	probably benign	Het
Rasef	T	C	4: 73,708,933 (GRCm39)	D100G	probably benign	Het
Rb1	A	C	14: 73,443,493 (GRCm39)	M754R	probably damaging	Het
Rbm6	T	C	9: 107,669,208 (GRCm39)	Q568R	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serf2	T	C	2: 121,281,206 (GRCm39)	S41P	possibly damaging	Het
Serf2	C	A	2: 121,281,205 (GRCm39)	D40E	possibly damaging	Het
Sh2b1	AGCTC	AGCTCAGCCACGGGGACCCGCTC	7: 126,066,768 (GRCm39)		probably benign	Het
Sympk	G	T	7: 18,771,986 (GRCm39)	R350L	possibly damaging	Het
Tab2	C	A	10: 7,795,124 (GRCm39)	V379L	probably damaging	Het
Tnk1	T	G	11: 69,743,666 (GRCm39)	T485P	probably benign	Het
Trmt6	T	C	2: 132,648,699 (GRCm39)	T412A	probably benign	Het
Vgll3	A	G	16: 65,636,229 (GRCm39)	T182A	probably benign	Het
Zfat	A	G	15: 68,084,652 (GRCm39)	S80P	probably damaging	Het
Zfp1004	C	A	2: 150,034,711 (GRCm39)	T344K	probably benign	Het
Zfyve26	A	G	12: 79,291,239 (GRCm39)	L2122S	probably damaging	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
R3158: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
RF012:Prss52	UTSW	14	64,350,922 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGCCATTTGGTACCAGG -3'
(R):5'- TCCAGTCCCACTTGAAACTC -3'

Sequencing Primer
(F):5'- TACCAGGTGGGCATTGTCAGC -3'
(R):5'- TGAAACTCTGCCAGTGATCCTCAG -3'

Posted On

2022-07-18