Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Prss55'

431179

Institutional Source

Beutler Lab

Gene Symbol

Prss55

Ensembl Gene

ENSMUSG00000034623

Gene Name

serine protease 55

Synonyms

4933401F05Rik

MMRRC Submission

043071-MU

Accession Numbers

Essential gene?

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

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64312887-64327611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64314574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 199 (M199L)

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: M199L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086752
Gene: ENSMUSG00000034623
AA Change: M199L

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: M199L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128485
Gene: ENSMUSG00000034623
AA Change: M199L

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

0.3782

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	G	3: 151,203,467 (GRCm39)	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,593,363 (GRCm39)	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,843,347 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,779,693 (GRCm39)	V392A	probably benign	Het
Ap2b1	A	G	11: 83,227,563 (GRCm39)		probably null	Het
Arsg	A	G	11: 109,418,700 (GRCm39)	E232G	probably benign	Het
Axdnd1	A	G	1: 156,162,920 (GRCm39)	F144S	probably benign	Het
Bud13	T	A	9: 46,203,498 (GRCm39)	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,012 (GRCm39)	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046 (GRCm39)	T1194A	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,911,290 (GRCm39)	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,406,024 (GRCm39)	W176R	probably damaging	Het
Cenpf	A	T	1: 189,415,100 (GRCm39)	D136E	probably benign	Het
Dclk2	T	C	3: 86,813,344 (GRCm39)	I201V	possibly damaging	Het
Defa24	T	A	8: 22,224,612 (GRCm39)	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,095,039 (GRCm39)	N566D	probably damaging	Het
Dido1	C	A	2: 180,326,966 (GRCm39)	V386L	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,028,807 (GRCm39)	P141S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113 (GRCm39)	L535P	probably damaging	Het
Gimap3	T	A	6: 48,742,183 (GRCm39)	E249V	possibly damaging	Het
Git2	A	T	5: 114,881,835 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,745 (GRCm39)	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,700,045 (GRCm39)	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,389,118 (GRCm39)	G31S	possibly damaging	Het
Herc2	A	T	7: 55,856,519 (GRCm39)	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 32,165,721 (GRCm39)	R134C	unknown	Het
Igf1r	G	C	7: 67,843,107 (GRCm39)	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,658,443 (GRCm39)	E102G	probably damaging	Het
Kif1a	T	G	1: 92,969,414 (GRCm39)	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,705,821 (GRCm39)	L245S	probably damaging	Het
Med17	A	G	9: 15,181,700 (GRCm39)	S17P	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps18b	A	G	17: 36,225,215 (GRCm39)		probably benign	Het
Ms4a8a	A	G	19: 11,056,828 (GRCm39)	S85P	probably benign	Het
Msln	T	C	17: 25,968,847 (GRCm39)	Q487R	probably benign	Het
Myh13	A	G	11: 67,228,549 (GRCm39)	N363S	probably benign	Het
Myo6	T	C	9: 80,152,942 (GRCm39)	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,634,383 (GRCm39)	D688G	probably damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or12d15	A	T	17: 37,694,192 (GRCm39)	M245L	probably benign	Het
Or1j16	G	A	2: 36,530,975 (GRCm39)	R308K	probably benign	Het
Or5p70	G	A	7: 107,994,332 (GRCm39)	A2T	probably benign	Het
Phf11a	C	A	14: 59,516,834 (GRCm39)	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,874,275 (GRCm39)	C520Y	probably benign	Het
Plxna4	C	A	6: 32,155,293 (GRCm39)	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,571,397 (GRCm39)	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,085,488 (GRCm39)	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,357,393 (GRCm39)		probably null	Het
Qrich1	G	A	9: 108,433,659 (GRCm39)	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,842,005 (GRCm39)	V47A	probably damaging	Het
Raph1	A	T	1: 60,562,105 (GRCm39)		probably benign	Het
Rgs12	T	C	5: 35,123,383 (GRCm39)	Y389H	probably damaging	Het
Sec24b	C	A	3: 129,834,544 (GRCm39)	G82V	probably damaging	Het
Sema4a	A	G	3: 88,357,293 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,361 (GRCm39)	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,244,551 (GRCm39)	S340A	probably benign	Het
Slc32a1	T	A	2: 158,456,716 (GRCm39)	M457K	probably damaging	Het
Spata31d1e	T	C	13: 59,890,234 (GRCm39)		probably null	Het
Spint4	C	T	2: 164,542,812 (GRCm39)	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,472,228 (GRCm39)	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,490,738 (GRCm39)	G863D	probably damaging	Het
Tmem156	G	A	5: 65,232,917 (GRCm39)	T151M	probably benign	Het
Trip12	T	C	1: 84,746,401 (GRCm39)	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,605,095 (GRCm39)	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 9,836,545 (GRCm39)	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 84,801,023 (GRCm39)	D304E	probably benign	Het
Wdr93	T	A	7: 79,399,779 (GRCm39)	F123I	probably damaging	Het
Zfp672	A	T	11: 58,207,456 (GRCm39)	C288*	probably null	Het
Zp1	T	C	19: 10,896,769 (GRCm39)	Y90C	probably damaging	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
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
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'- AGAGGCAAGCGAACAACTTC -3'
(R):5'- AGGCCACCATCATGCTTCATTATC -3'

Sequencing Primer
(F):5'- TAGCCTGAACTTGCCCAGTAG -3'
(R):5'- ATTATCTGCGTAGAGACTGCC -3'

Posted On

2016-10-05