Mutagenetix > Incidental Mutation

Incidental Mutation 'R7972:Prss57'

650669

Institutional Source

Beutler Lab

Gene Symbol

Prss57

Ensembl Gene

ENSMUSG00000020323

Gene Name

serine protease 57

Synonyms

GLGL782, 2900092M14Rik, UNQ782, Prssl1

MMRRC Submission

046015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79617308-79626795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79619230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 243 (L243H)

Ref Sequence

ENSEMBL: ENSMUSP00000020573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020573] [ENSMUST00000020575] [ENSMUST00000169684]

AlphaFold

Q14B24

Predicted Effect

probably benign
Transcript: ENSMUST00000020573
AA Change: L243H

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020573
Gene: ENSMUSG00000020323
AA Change: L243H

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Tryp_SPc	39	264	1.53e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020575

SMART Domains

Protein: ENSMUSP00000020575
Gene: ENSMUSG00000020325

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FOLN	96	118	4.13e-6	SMART
KAZAL	116	165	1.69e-11	SMART
FOLN	168	191	1.09e-5	SMART
KAZAL	197	241	1.02e-5	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000130448
Gene: ENSMUSG00000020323
AA Change: S75T

Domain	Start	End	E-Value	Type
Pfam:Trypsin	1	75	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169684
AA Change: L243H

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132215
Gene: ENSMUSG00000020323
AA Change: L243H

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Tryp_SPc	39	264	1.53e-70	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000131642
Gene: ENSMUSG00000020323
AA Change: L65H

Domain	Start	End	E-Value	Type
Tryp_SPc	1	87	3.16e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,287 (GRCm39)	V384E	probably damaging	Het
Acacb	C	T	5: 114,364,918 (GRCm39)	R1533*	probably null	Het
Alox12	T	A	11: 70,133,513 (GRCm39)	M604L	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Brdt	A	T	5: 107,496,415 (GRCm39)	I176F	possibly damaging	Het
Cdk5	G	T	5: 24,624,656 (GRCm39)	T245K	probably benign	Het
Chd9	A	T	8: 91,732,395 (GRCm39)	R1304S	unknown	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cyp2j11	T	A	4: 96,185,871 (GRCm39)	E438V	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,803,949 (GRCm39)	V92A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam184a	A	T	10: 53,514,355 (GRCm39)	L1022Q	probably damaging	Het
Foxd4	T	C	19: 24,877,594 (GRCm39)	H202R	probably damaging	Het
Fry	T	C	5: 150,233,861 (GRCm39)	V16A	probably benign	Het
Gstcd	A	T	3: 132,777,894 (GRCm39)	F306I	probably benign	Het
H2bc13	A	G	13: 21,899,977 (GRCm39)	S113P	possibly damaging	Het
Hivep3	T	C	4: 119,954,711 (GRCm39)	V1009A	possibly damaging	Het
Hoxd12	G	T	2: 74,506,269 (GRCm39)	R227L	probably damaging	Het
Ifi208	T	A	1: 173,506,556 (GRCm39)	M113K	possibly damaging	Het
Ift70a1	A	T	2: 75,810,802 (GRCm39)	M427K	probably damaging	Het
Kcnh4	T	G	11: 100,643,278 (GRCm39)	T330P	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lin28a	G	A	4: 133,733,574 (GRCm39)	P158S	probably damaging	Het
Muc16	C	A	9: 18,557,060 (GRCm39)	E3078*	probably null	Het
Naaladl1	A	G	19: 6,156,274 (GRCm39)	N120S	probably damaging	Het
Nol10	G	A	12: 17,402,648 (GRCm39)	R40H	probably benign	Het
Ntng1	G	A	3: 110,042,802 (GRCm39)	S8L	probably benign	Het
Or4a71	T	G	2: 89,357,948 (GRCm39)	I269L	probably benign	Het
Or4c107	T	A	2: 88,789,177 (GRCm39)	Y122*	probably null	Het
Pacsin1	T	A	17: 27,927,613 (GRCm39)	F319I	unknown	Het
Pla2g4d	G	A	2: 120,109,413 (GRCm39)	T212I	probably benign	Het
Ppp4r1	T	A	17: 66,140,093 (GRCm39)	C664S	possibly damaging	Het
Prodh2	T	C	7: 30,210,580 (GRCm39)	I377T	probably damaging	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Ros1	G	A	10: 52,030,926 (GRCm39)	R581*	probably null	Het
Rps6kc1	C	T	1: 190,531,321 (GRCm39)	G894S	probably benign	Het
Sirt7	A	G	11: 120,510,016 (GRCm39)	S183P	unknown	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Styxl2	T	A	1: 165,926,708 (GRCm39)	E968V	probably damaging	Het
Tbc1d8	A	G	1: 39,431,250 (GRCm39)	F374S	probably damaging	Het
Tdrd1	T	A	19: 56,837,134 (GRCm39)	D489E	probably damaging	Het
Tiprl	T	A	1: 165,064,543 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,085,539 (GRCm39)	*173Q	probably null	Het
Trim17	A	G	11: 58,859,394 (GRCm39)	I203V	probably benign	Het
Trim43b	T	A	9: 88,973,361 (GRCm39)	H124L	probably damaging	Het
Triobp	T	C	15: 78,852,186 (GRCm39)	I780T	probably damaging	Het
Tyrobp	G	A	7: 30,114,063 (GRCm39)	G101R		Het
Vmn1r181	A	T	7: 23,683,871 (GRCm39)	H112L	probably benign	Het
Wdr19	A	G	5: 65,381,193 (GRCm39)	N406D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,728 (GRCm39)	K379E	probably benign	Het
Zcwpw1	T	C	5: 137,799,323 (GRCm39)	I230T	probably benign	Het
Zfhx4	A	G	3: 5,477,533 (GRCm39)	T3383A	probably benign	Het

Other mutations in Prss57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Prss57	APN	10	79,621,581 (GRCm39)	unclassified	probably benign
IGL02675:Prss57	APN	10	79,623,309 (GRCm39)	missense	probably benign	0.02
R0882:Prss57	UTSW	10	79,621,699 (GRCm39)	missense	probably damaging	1.00
R1777:Prss57	UTSW	10	79,623,219 (GRCm39)	missense	possibly damaging	0.91
R2257:Prss57	UTSW	10	79,623,204 (GRCm39)	missense	probably damaging	1.00
R5055:Prss57	UTSW	10	79,620,178 (GRCm39)	critical splice donor site	probably null
R7567:Prss57	UTSW	10	79,623,234 (GRCm39)	missense	probably benign	0.02
R7846:Prss57	UTSW	10	79,623,213 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCCAAGTCTCAAGCCATG -3'
(R):5'- ATGTAGGCTTTGCATTGCTCAAAG -3'

Sequencing Primer
(F):5'- ATATTCCAGATGTGAGCCAGTG -3'
(R):5'- GCTTTGCATTGCTCAAAGACCAC -3'

Posted On

2020-09-15