Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Prss56'

395799

Institutional Source

Beutler Lab

Gene Symbol

Prss56

Ensembl Gene

ENSMUSG00000036480

Gene Name

protease, serine 56

Synonyms

Prss56, 1700027L20Rik

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87183313-87188405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 87188111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 569 (R569P)

Ref Sequence

ENSEMBL: ENSMUSP00000138773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044533] [ENSMUST00000073252] [ENSMUST00000186373]

AlphaFold

F2YMG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044533
AA Change: R569P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: R569P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:Tryp_SPc	58	103	1e-5	BLAST
Tryp_SPc	108	336	1.17e-84	SMART
Blast:Tryp_SPc	340	385	4e-9	BLAST
low complexity region	386	407	N/A	INTRINSIC
low complexity region	410	422	N/A	INTRINSIC
Blast:Tryp_SPc	432	499	1e-5	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000073252

SMART Domains

Protein: ENSMUSP00000072983
Gene: ENSMUSG00000026251

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:Neur_chan_LBD	28	249	4.4e-70	PFAM
Pfam:Neur_chan_memb	256	492	1.1e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186373

SMART Domains

Protein: ENSMUSP00000139537
Gene: ENSMUSG00000026251

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	1	140	4.2e-40	PFAM
Pfam:Neur_chan_memb	147	383	6.6e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189970

Meta Mutation Damage Score

0.1017

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for an ENU induced mutation show increased intraocular pressure, variable decreases in eye axial length, and narrow iridocorneal angles. Homozygous mice model angle-closure glaucoma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,425,593 (GRCm38)		noncoding transcript	Het
4932415D10Rik	G	T	10: 82,283,667 (GRCm38)	A4503E	probably damaging	Het
Adgrv1	C	T	13: 81,095,487 (GRCm38)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,720,133 (GRCm38)	G660D	probably damaging	Het
Arap2	A	G	5: 62,654,049 (GRCm38)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,413 (GRCm38)		probably null	Het
C1rb	A	T	6: 124,580,313 (GRCm38)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,800,738 (GRCm38)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,954,661 (GRCm38)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,575,476 (GRCm38)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,634,957 (GRCm38)		probably benign	Het
Flt4	T	A	11: 49,627,159 (GRCm38)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,548,921 (GRCm38)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,624,038 (GRCm38)	N550T	probably benign	Het
Hcn3	C	A	3: 89,149,923 (GRCm38)	R456L	probably damaging	Het
Htt	T	C	5: 34,824,395 (GRCm38)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,786,849 (GRCm38)	D203G	probably damaging	Het
Itga10	G	T	3: 96,648,164 (GRCm38)	V145L	probably benign	Het
Kcnh6	A	G	11: 106,017,254 (GRCm38)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,929,671 (GRCm38)	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,158 (GRCm38)	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,000 (GRCm38)	D418V	probably damaging	Het
Myo5a	A	T	9: 75,184,389 (GRCm38)	K1179*	probably null	Het
Myo5a	A	G	9: 75,152,020 (GRCm38)	D510G	probably damaging	Het
Neto1	T	C	18: 86,398,281 (GRCm38)	S38P	probably benign	Het
Nos3	A	G	5: 24,368,918 (GRCm38)		probably benign	Het
Nuggc	C	T	14: 65,635,090 (GRCm38)	R512*	probably null	Het
Oas1e	T	A	5: 120,794,264 (GRCm38)	K105*	probably null	Het
Olfr135	A	C	17: 38,208,317 (GRCm38)	E24A	possibly damaging	Het
Olfr512	T	C	7: 108,713,812 (GRCm38)	F141S	probably damaging	Het
Omd	T	A	13: 49,589,698 (GRCm38)	S75T	possibly damaging	Het
Pbrm1	A	G	14: 31,032,530 (GRCm38)	N190S	probably benign	Het
Picalm	T	C	7: 90,170,633 (GRCm38)	F85L	probably damaging	Het
Polg	A	G	7: 79,460,300 (GRCm38)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,581,921 (GRCm38)	D1017G	probably damaging	Het
Rab6b	G	A	9: 103,140,384 (GRCm38)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,131,385 (GRCm38)	T332A	probably benign	Het
Rheb	A	T	5: 24,807,641 (GRCm38)	M115K	probably benign	Het
Rnf149	A	T	1: 39,555,656 (GRCm38)	D321E	probably benign	Het
Rps28	C	T	17: 33,823,203 (GRCm38)		probably null	Het
Slc6a20b	A	G	9: 123,595,054 (GRCm38)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,469,300 (GRCm38)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,085,763 (GRCm38)	M573I	probably damaging	Het
Srp68	C	T	11: 116,248,747 (GRCm38)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,548,975 (GRCm38)	V346I	probably benign	Het
Syne2	A	G	12: 75,952,826 (GRCm38)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,734,192 (GRCm38)	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,846,845 (GRCm38)	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,288,451 (GRCm38)		probably null	Het
Vmn2r72	T	A	7: 85,737,853 (GRCm38)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,202 (GRCm38)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,309,073 (GRCm38)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,693,636 (GRCm38)		probably benign	Het

Other mutations in Prss56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
B5639:Prss56	UTSW	1	87,187,170 (GRCm38)	missense	probably benign
R0390:Prss56	UTSW	1	87,184,730 (GRCm38)	splice site	probably null
R4544:Prss56	UTSW	1	87,184,642 (GRCm38)	missense	probably damaging	0.99
R4723:Prss56	UTSW	1	87,185,337 (GRCm38)	missense	possibly damaging	0.54
R4749:Prss56	UTSW	1	87,185,583 (GRCm38)	missense	possibly damaging	0.88
R4898:Prss56	UTSW	1	87,187,986 (GRCm38)	missense	probably damaging	0.99
R5176:Prss56	UTSW	1	87,184,158 (GRCm38)	missense	probably damaging	1.00
R5205:Prss56	UTSW	1	87,185,534 (GRCm38)	missense	probably damaging	1.00
R6029:Prss56	UTSW	1	87,187,557 (GRCm38)	nonsense	probably null
R6223:Prss56	UTSW	1	87,185,412 (GRCm38)	missense	probably benign	0.02
R7018:Prss56	UTSW	1	87,185,948 (GRCm38)	missense	possibly damaging	0.54
R7143:Prss56	UTSW	1	87,188,153 (GRCm38)	missense	probably benign
R7237:Prss56	UTSW	1	87,184,915 (GRCm38)	missense	probably damaging	0.99
R7284:Prss56	UTSW	1	87,185,401 (GRCm38)	missense	probably null	0.06
R7553:Prss56	UTSW	1	87,183,539 (GRCm38)	missense	probably benign	0.17
R7898:Prss56	UTSW	1	87,184,199 (GRCm38)	missense	probably benign	0.17
R8951:Prss56	UTSW	1	87,188,027 (GRCm38)	missense	probably damaging	0.97
R9733:Prss56	UTSW	1	87,183,497 (GRCm38)	missense	possibly damaging	0.93
R9771:Prss56	UTSW	1	87,185,643 (GRCm38)	missense	possibly damaging	0.88
RF024:Prss56	UTSW	1	87,187,170 (GRCm38)	missense	probably benign
Z1177:Prss56	UTSW	1	87,187,146 (GRCm38)	missense	probably damaging	1.00
Z1177:Prss56	UTSW	1	87,186,317 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGAAACCCTCAGGAGTGG -3'
(R):5'- TAGAGAGACTTTGTATGTCTCACAC -3'

Sequencing Primer
(F):5'- AACCTCCTCCCTCTGCAGG -3'
(R):5'- GAGACTTTGTATGTCTCACACAACCG -3'

Posted On

2016-06-21