Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:Prss55'

35319

Institutional Source

Beutler Lab

Gene Symbol

Prss55

Ensembl Gene

ENSMUSG00000034623

Gene Name

serine protease 55

Synonyms

4933401F05Rik

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64312887-64327611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64313056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 276 (G276D)

Ref Sequence

ENSEMBL: ENSMUSP00000086752 (fasta)

Gene Model

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

AlphaFold

Q14BX2

Predicted Effect

probably benign
Transcript: ENSMUST00000089338
AA Change: G276D

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: G276D

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 benign
Transcript: ENSMUST00000171503

SMART Domains

Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,507,474 (GRCm39)	Q173R	possibly damaging	Het
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Mrpl37	C	A	4: 106,923,658 (GRCm39)	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Pcsk9	A	G	4: 106,306,246 (GRCm39)		probably benign	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,543 (GRCm39)		probably null	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tmprss13	A	G	9: 45,244,986 (GRCm39)		probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zfp235	A	T	7: 23,836,556 (GRCm39)	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	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
IGL02625:Prss55	APN	14	64,316,818 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTAGTGAGCCCCAAAGCACAC -3'
(R):5'- ATTGAATGAGCTGTGCCCAGCC -3'

Sequencing Primer
(F):5'- CACACTGTAACTTAGGGTTAGGG -3'
(R):5'- GCCTCTATGGGCAATTAAAATGGAC -3'

Posted On

2013-05-09