Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Prss56'

545424

Institutional Source

Beutler Lab

Gene Symbol

Prss56

Ensembl Gene

ENSMUSG00000036480

Gene Name

protease, serine 56

Synonyms

Prss56, 1700027L20Rik

MMRRC Submission

045119-MU

Accession Numbers

Genbank: XM_487606

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

87183313-87188405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87185948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 258 (D258V)

Ref Sequence

ENSEMBL: ENSMUSP00000138773 (fasta)

Gene Model

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

AlphaFold

F2YMG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044533
AA Change: D258V

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: D258V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049 (GRCm38)	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435 (GRCm38)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731 (GRCm38)	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694 (GRCm38)	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321 (GRCm38)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971 (GRCm38)	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855 (GRCm38)	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278 (GRCm38)	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944 (GRCm38)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738 (GRCm38)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200 (GRCm38)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518 (GRCm38)	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558 (GRCm38)	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997 (GRCm38)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506 (GRCm38)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868 (GRCm38)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824 (GRCm38)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365 (GRCm38)	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247 (GRCm38)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862 (GRCm38)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132 (GRCm38)	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724 (GRCm38)	R620*	probably null	Het
Klk13	C	A	7: 43,726,702 (GRCm38)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378 (GRCm38)		probably benign	Het
L3mbtl4	G	A	17: 68,486,943 (GRCm38)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742 (GRCm38)	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459 (GRCm38)		probably null	Het
Med13l	G	A	5: 118,751,986 (GRCm38)	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084 (GRCm38)	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426 (GRCm38)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821 (GRCm38)	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048 (GRCm38)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256 (GRCm38)	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607 (GRCm38)	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344 (GRCm38)	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502 (GRCm38)	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419 (GRCm38)	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354 (GRCm38)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554 (GRCm38)		probably benign	Het
Peg3	T	C	7: 6,708,839 (GRCm38)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Plscr1	T	A	9: 92,264,662 (GRCm38)	V119D	probably damaging	Het
Ptpn23	T	G	9: 110,385,816 (GRCm38)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285 (GRCm38)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233 (GRCm38)	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900 (GRCm38)	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953 (GRCm38)	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415 (GRCm38)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421 (GRCm38)	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444 (GRCm38)	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415 (GRCm38)	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058 (GRCm38)	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627 (GRCm38)	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897 (GRCm38)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570 (GRCm38)	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853 (GRCm38)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951 (GRCm38)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181 (GRCm38)	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051 (GRCm38)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762 (GRCm38)		probably null	Het
Zfp646	C	A	7: 127,882,322 (GRCm38)	Q1224K	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
R5095:Prss56	UTSW	1	87,188,111 (GRCm38)	missense	probably damaging	1.00
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
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'- AGACTAGAATGATGCTCCATCGC -3'
(R):5'- TGGCTGCGTCTGTGATTACTAC -3'

Sequencing Primer
(F):5'- TCGCATAAACCACGAGGAATTAAAG -3'
(R):5'- CGGTAGGTAGGAGCTTTCAGC -3'

Posted On

2019-05-13