Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Prss56'

395799

Institutional Source

Beutler Lab

Gene Symbol

Prss56

Ensembl Gene

ENSMUSG00000036480

Gene Name

serine protease 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

87111035-87116127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 87115833 bp (GRCm39)

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: 21,301,492 (GRCm39)		noncoding transcript	Het
Adgrv1	C	T	13: 81,243,606 (GRCm39)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,369,881 (GRCm39)	G660D	probably damaging	Het
Arap2	A	G	5: 62,811,392 (GRCm39)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,657 (GRCm39)		probably null	Het
C1rb	A	T	6: 124,557,272 (GRCm39)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,691,564 (GRCm39)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,882,391 (GRCm39)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,708,547 (GRCm39)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Flt4	T	A	11: 49,517,986 (GRCm39)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,379,402 (GRCm39)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,532,473 (GRCm39)	N550T	probably benign	Het
Hcn3	C	A	3: 89,057,230 (GRCm39)	R456L	probably damaging	Het
Htt	T	C	5: 34,981,739 (GRCm39)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,698,146 (GRCm39)	D203G	probably damaging	Het
Itga10	G	T	3: 96,555,480 (GRCm39)	V145L	probably benign	Het
Kcnh6	A	G	11: 105,908,080 (GRCm39)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,820,497 (GRCm39)	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,159 (GRCm39)	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,001 (GRCm39)	D418V	probably damaging	Het
Myo5a	A	G	9: 75,059,302 (GRCm39)	D510G	probably damaging	Het
Myo5a	A	T	9: 75,091,671 (GRCm39)	K1179*	probably null	Het
Neto1	T	C	18: 86,416,406 (GRCm39)	S38P	probably benign	Het
Nos3	A	G	5: 24,573,916 (GRCm39)		probably benign	Het
Nuggc	C	T	14: 65,872,539 (GRCm39)	R512*	probably null	Het
Oas1e	T	A	5: 120,932,329 (GRCm39)	K105*	probably null	Het
Omd	T	A	13: 49,743,174 (GRCm39)	S75T	possibly damaging	Het
Or10a3m	T	C	7: 108,313,019 (GRCm39)	F141S	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Pbrm1	A	G	14: 30,754,487 (GRCm39)	N190S	probably benign	Het
Picalm	T	C	7: 89,819,841 (GRCm39)	F85L	probably damaging	Het
Polg	A	G	7: 79,110,048 (GRCm39)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,423,841 (GRCm39)	D1017G	probably damaging	Het
Rab6b	G	A	9: 103,017,583 (GRCm39)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,201,609 (GRCm39)	T332A	probably benign	Het
Rheb	A	T	5: 25,012,639 (GRCm39)	M115K	probably benign	Het
Rnf149	A	T	1: 39,594,737 (GRCm39)	D321E	probably benign	Het
Rps28	C	T	17: 34,042,177 (GRCm39)		probably null	Het
Slc6a20b	A	G	9: 123,424,119 (GRCm39)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,305,169 (GRCm39)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spata31h1	G	T	10: 82,119,501 (GRCm39)	A4503E	probably damaging	Het
Srp68	C	T	11: 116,139,573 (GRCm39)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,439,801 (GRCm39)	V346I	probably benign	Het
Syne2	A	G	12: 75,999,600 (GRCm39)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,564,536 (GRCm39)	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,682,707 (GRCm39)	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,436,317 (GRCm39)		probably null	Het
Vmn2r72	T	A	7: 85,387,061 (GRCm39)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,348 (GRCm39)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,393,061 (GRCm39)		probably benign	Het

Other mutations in Prss56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
B5639:Prss56	UTSW	1	87,114,892 (GRCm39)	missense	probably benign
R0390:Prss56	UTSW	1	87,112,452 (GRCm39)	splice site	probably null
R4544:Prss56	UTSW	1	87,112,364 (GRCm39)	missense	probably damaging	0.99
R4723:Prss56	UTSW	1	87,113,059 (GRCm39)	missense	possibly damaging	0.54
R4749:Prss56	UTSW	1	87,113,305 (GRCm39)	missense	possibly damaging	0.88
R4898:Prss56	UTSW	1	87,115,708 (GRCm39)	missense	probably damaging	0.99
R5176:Prss56	UTSW	1	87,111,880 (GRCm39)	missense	probably damaging	1.00
R5205:Prss56	UTSW	1	87,113,256 (GRCm39)	missense	probably damaging	1.00
R6029:Prss56	UTSW	1	87,115,279 (GRCm39)	nonsense	probably null
R6223:Prss56	UTSW	1	87,113,134 (GRCm39)	missense	probably benign	0.02
R7018:Prss56	UTSW	1	87,113,670 (GRCm39)	missense	possibly damaging	0.54
R7143:Prss56	UTSW	1	87,115,875 (GRCm39)	missense	probably benign
R7237:Prss56	UTSW	1	87,112,637 (GRCm39)	missense	probably damaging	0.99
R7284:Prss56	UTSW	1	87,113,123 (GRCm39)	missense	probably null	0.06
R7553:Prss56	UTSW	1	87,111,261 (GRCm39)	missense	probably benign	0.17
R7898:Prss56	UTSW	1	87,111,921 (GRCm39)	missense	probably benign	0.17
R8951:Prss56	UTSW	1	87,115,749 (GRCm39)	missense	probably damaging	0.97
R9733:Prss56	UTSW	1	87,111,219 (GRCm39)	missense	possibly damaging	0.93
R9771:Prss56	UTSW	1	87,113,365 (GRCm39)	missense	possibly damaging	0.88
RF024:Prss56	UTSW	1	87,114,892 (GRCm39)	missense	probably benign
Z1177:Prss56	UTSW	1	87,114,868 (GRCm39)	missense	probably damaging	1.00
Z1177:Prss56	UTSW	1	87,114,039 (GRCm39)	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