Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Prss55'

301037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss55

Ensembl Gene

ENSMUSG00000034623

Gene Name

serine protease 55

Synonyms

4933401F05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

64312887-64327611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64316818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 108 (I108K)

Ref Sequence

ENSEMBL: ENSMUSP00000128485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089338] [ENSMUST00000171503]

AlphaFold

Q14BX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000089338
AA Change: I108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: I108K

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	34	261	1.55e-80	SMART
low complexity region	277	294	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169113

Predicted Effect

probably damaging
Transcript: ENSMUST00000171503
AA Change: I108K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623
AA Change: I108K

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	34	225	1.77e-43	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,634,584 (GRCm39)	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,471,039 (GRCm39)	E53D	probably benign	Het
Ccr4	A	C	9: 114,321,401 (GRCm39)	C221W	probably damaging	Het
Ces2a	G	A	8: 105,466,910 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,796,709 (GRCm39)	E552*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dock2	A	G	11: 34,451,168 (GRCm39)		probably null	Het
Esr1	A	T	10: 4,951,346 (GRCm39)	T575S	probably benign	Het
Fancc	A	G	13: 63,545,965 (GRCm39)	C93R	probably damaging	Het
Foxj3	A	T	4: 119,482,114 (GRCm39)	R523W	unknown	Het
Fryl	C	T	5: 73,227,220 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,779,836 (GRCm39)	H194P	probably benign	Het
Gaa	G	A	11: 119,165,559 (GRCm39)	V350I	probably damaging	Het
Gpn3	T	A	5: 122,519,257 (GRCm39)	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,678,417 (GRCm39)	H136L	probably benign	Het
H4c16	C	T	6: 136,781,335 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,239,953 (GRCm39)	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422 (GRCm39)	E728G	probably benign	Het
Kat14	G	A	2: 144,244,365 (GRCm39)	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,413,900 (GRCm39)	D863E	probably damaging	Het
Lrp1	A	G	10: 127,410,355 (GRCm39)	Y1464H	probably damaging	Het
Map4	T	C	9: 109,893,485 (GRCm39)	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,347,085 (GRCm39)	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,503,413 (GRCm39)	I506M	probably benign	Het
Nudt17	G	A	3: 96,613,780 (GRCm39)	R266W	probably damaging	Het
Or4a47	A	G	2: 89,665,740 (GRCm39)	L183P	probably damaging	Het
Or4a69	A	G	2: 89,313,018 (GRCm39)	S154P	probably damaging	Het
Or52h9	A	G	7: 104,202,780 (GRCm39)	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,803,714 (GRCm39)	E529G	probably benign	Het
Prss32	A	T	17: 24,075,210 (GRCm39)	I187F	possibly damaging	Het
Rcl1	A	G	19: 29,095,741 (GRCm39)	M109V	probably benign	Het
Rho	A	T	6: 115,912,158 (GRCm39)	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,012,611 (GRCm39)	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,309,330 (GRCm39)		probably null	Het
Stx11	T	A	10: 12,817,661 (GRCm39)	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807 (GRCm39)	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,974,972 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,830,039 (GRCm39)	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,206,407 (GRCm39)	M296T	probably damaging	Het
Trim13	T	A	14: 61,842,999 (GRCm39)	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,023,239 (GRCm39)	K133E	possibly damaging	Het
Usp40	A	G	1: 87,877,739 (GRCm39)	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,288,781 (GRCm39)	N240T	probably damaging	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr6	T	C	9: 108,452,704 (GRCm39)	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,183,609 (GRCm39)		probably benign	Het

Other mutations in Prss55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Prss55	APN	14	64,314,636 (GRCm39)	missense	probably benign	0.02
IGL02061:Prss55	APN	14	64,313,192 (GRCm39)	missense	possibly damaging	0.60
IGL02901:Prss55	APN	14	64,314,576 (GRCm39)	missense	probably damaging	1.00
IGL03407:Prss55	APN	14	64,314,539 (GRCm39)	missense	probably damaging	1.00
R0271:Prss55	UTSW	14	64,313,056 (GRCm39)	missense	probably benign	0.02
R0900:Prss55	UTSW	14	64,314,627 (GRCm39)	missense	probably benign	0.00
R1299:Prss55	UTSW	14	64,319,147 (GRCm39)	missense	probably damaging	1.00
R1740:Prss55	UTSW	14	64,313,129 (GRCm39)	missense	probably damaging	1.00
R1789:Prss55	UTSW	14	64,313,179 (GRCm39)	missense	probably damaging	1.00
R1899:Prss55	UTSW	14	64,316,839 (GRCm39)	missense	probably benign	0.33
R2291:Prss55	UTSW	14	64,313,171 (GRCm39)	missense	probably damaging	1.00
R5510:Prss55	UTSW	14	64,314,574 (GRCm39)	missense	probably damaging	1.00
R6977:Prss55	UTSW	14	64,316,785 (GRCm39)	missense	probably damaging	0.99
R7912:Prss55	UTSW	14	64,319,180 (GRCm39)	missense	possibly damaging	0.85
R7952:Prss55	UTSW	14	64,313,132 (GRCm39)	missense	probably damaging	1.00
R7980:Prss55	UTSW	14	64,316,138 (GRCm39)	splice site	probably null
R9187:Prss55	UTSW	14	64,314,531 (GRCm39)	missense	probably null	1.00

Posted On

2015-04-16