Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Prss56'

584525

Institutional Source

Beutler Lab

Gene Symbol

Prss56

Ensembl Gene

ENSMUSG00000036480

Gene Name

protease, serine 56

Synonyms

Prss56, 1700027L20Rik

MMRRC Submission

Accession Numbers

Genbank: XM_487606

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87183313-87188405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87183539 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 16 (D16G)

Ref Sequence

ENSEMBL: ENSMUSP00000138773 (fasta)

Gene Model

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

AlphaFold

F2YMG0

Predicted Effect

probably benign
Transcript: ENSMUST00000044533
AA Change: D16G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: D16G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Myrf	A	G	19: 10,228,876	F59L	probably benign	Het
Ndst3	G	T	3: 123,557,060		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nrp1	G	A	8: 128,431,987	A252T	probably damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Rad17	A	T	13: 100,633,286	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,336,675	D122G	probably benign	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	probably null	Het

Other mutations in Prss56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
B5639:Prss56	UTSW	1	87187170	missense	probably benign
R0390:Prss56	UTSW	1	87184730	splice site	probably null
R4544:Prss56	UTSW	1	87184642	missense	probably damaging	0.99
R4723:Prss56	UTSW	1	87185337	missense	possibly damaging	0.54
R4749:Prss56	UTSW	1	87185583	missense	possibly damaging	0.88
R4898:Prss56	UTSW	1	87187986	missense	probably damaging	0.99
R5095:Prss56	UTSW	1	87188111	missense	probably damaging	1.00
R5176:Prss56	UTSW	1	87184158	missense	probably damaging	1.00
R5205:Prss56	UTSW	1	87185534	missense	probably damaging	1.00
R6029:Prss56	UTSW	1	87187557	nonsense	probably null
R6223:Prss56	UTSW	1	87185412	missense	probably benign	0.02
R7018:Prss56	UTSW	1	87185948	missense	possibly damaging	0.54
R7143:Prss56	UTSW	1	87188153	missense	probably benign
R7237:Prss56	UTSW	1	87184915	missense	probably damaging	0.99
R7284:Prss56	UTSW	1	87185401	missense	probably null	0.06
R7898:Prss56	UTSW	1	87184199	missense	probably benign	0.17
R8951:Prss56	UTSW	1	87188027	missense	probably damaging	0.97
R9733:Prss56	UTSW	1	87183497	missense	possibly damaging	0.93
R9771:Prss56	UTSW	1	87185643	missense	possibly damaging	0.88
RF024:Prss56	UTSW	1	87187170	missense	probably benign
Z1177:Prss56	UTSW	1	87186317	missense	probably damaging	0.99
Z1177:Prss56	UTSW	1	87187146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATAGCTCCAGGGCATCGTTTC -3'
(R):5'- ATATCCCAGTTCCAGGCTCC -3'

Sequencing Primer
(F):5'- AGGGCATCGTTTCCCTGAG -3'
(R):5'- AGGCTCCTCCTTCCAGCAG -3'

Posted On

2019-10-17