Mutagenetix > Incidental Mutation

Incidental Mutation 'R7237:Prss56'

562863

Institutional Source

Beutler Lab

Gene Symbol

Prss56

Ensembl Gene

ENSMUSG00000036480

Gene Name

serine protease 56

Synonyms

Prss56, 1700027L20Rik

MMRRC Submission

045344-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87111035-87116127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87112637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

Ref Sequence

ENSEMBL: ENSMUSP00000138773 (fasta)

Gene Model

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

AlphaFold

F2YMG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044533
AA Change: V144A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138773
Gene: ENSMUSG00000036480
AA Change: V144A

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

Meta Mutation Damage Score

0.1128

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (83/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,854,783 (GRCm39)	C1536*	probably null	Het
Armc9	C	A	1: 86,092,571 (GRCm39)	Q169K	possibly damaging	Het
Aspm	T	A	1: 139,405,667 (GRCm39)	M1518K	possibly damaging	Het
AU018091	A	G	7: 3,209,006 (GRCm39)	I360T	probably benign	Het
BB014433	C	A	8: 15,091,765 (GRCm39)	V363L	probably benign	Het
Bcam	T	C	7: 19,503,232 (GRCm39)		probably null	Het
Cacna1g	T	C	11: 94,328,705 (GRCm39)	S1071G	probably benign	Het
Card9	A	T	2: 26,246,787 (GRCm39)	S354T	probably benign	Het
Ccdc87	A	G	19: 4,889,790 (GRCm39)	N94S	probably benign	Het
Cdc27	A	G	11: 104,408,245 (GRCm39)	V555A	probably benign	Het
Coro1a	T	A	7: 126,299,478 (GRCm39)	D411V	probably benign	Het
Cybrd1	GGTCCTGCAC	G	2: 70,948,553 (GRCm39)		probably benign	Het
Cyth1	A	T	11: 118,076,321 (GRCm39)	I95N	probably damaging	Het
Dnah7b	A	T	1: 46,179,126 (GRCm39)	E933V	probably damaging	Het
Dync2h1	A	T	9: 6,993,966 (GRCm39)	I3968N	probably benign	Het
Fam184a	T	C	10: 53,510,489 (GRCm39)		probably benign	Het
Fat3	G	A	9: 16,288,510 (GRCm39)	L338F	probably damaging	Het
Fcgr3	A	G	1: 170,886,870 (GRCm39)	L18P	probably damaging	Het
Gbp5	T	C	3: 142,213,461 (GRCm39)	V459A	probably benign	Het
Gja4	A	T	4: 127,205,956 (GRCm39)	M269K	probably benign	Het
Gm4787	A	G	12: 81,424,442 (GRCm39)	V572A	probably damaging	Het
Grin2d	G	T	7: 45,515,600 (GRCm39)	S131*	probably null	Het
Gys1	A	G	7: 45,104,586 (GRCm39)	D671G	probably benign	Het
Haspin	T	C	11: 73,027,712 (GRCm39)	N459S	probably benign	Het
Hdac10	G	T	15: 89,009,580 (GRCm39)	Q451K	probably benign	Het
Hdac9	T	C	12: 34,424,139 (GRCm39)		probably null	Het
Hmcn1	A	G	1: 150,598,394 (GRCm39)	V1636A	probably damaging	Het
Hpca	A	G	4: 129,012,407 (GRCm39)	L43P	probably damaging	Het
Hycc2	G	A	1: 58,569,107 (GRCm39)	Q491*	probably null	Het
Insm1	C	A	2: 146,064,448 (GRCm39)	A88E	possibly damaging	Het
Itga9	A	G	9: 118,465,670 (GRCm39)	K175E	probably benign	Het
Kif13a	A	G	13: 46,962,632 (GRCm39)		probably null	Het
Kif20b	T	A	19: 34,928,005 (GRCm39)	L1089H	probably damaging	Het
Lamp5	A	T	2: 135,901,755 (GRCm39)	H152L	probably benign	Het
Lrp4	T	C	2: 91,303,528 (GRCm39)	F76L	probably benign	Het
Magi3	T	C	3: 103,935,227 (GRCm39)	D902G	probably damaging	Het
Map10	C	T	8: 126,397,963 (GRCm39)	P452L	probably benign	Het
Mapk6	A	G	9: 75,304,895 (GRCm39)	L174P	probably damaging	Het
Meak7	C	T	8: 120,489,054 (GRCm39)	G410S	probably damaging	Het
Ndufa4	C	T	6: 11,906,018 (GRCm39)		probably null	Het
Nedd4	A	T	9: 72,632,346 (GRCm39)	E393D	probably benign	Het
Nlrp4b	G	A	7: 10,449,143 (GRCm39)	V449I	probably benign	Het
Nufip2	T	A	11: 77,583,596 (GRCm39)	N503K	probably benign	Het
Or10ac1	T	C	6: 42,515,581 (GRCm39)	D125G	probably damaging	Het
Or6y1	C	T	1: 174,276,905 (GRCm39)	R239C	probably benign	Het
P4ha1	A	G	10: 59,184,065 (GRCm39)	T176A	probably benign	Het
Palm3	A	G	8: 84,756,117 (GRCm39)	K543R	probably benign	Het
Parvg	G	A	15: 84,225,557 (GRCm39)	A302T	probably benign	Het
Pcdh15	A	G	10: 74,420,023 (GRCm39)	D1227G	possibly damaging	Het
Pdzd8	C	T	19: 59,333,571 (GRCm39)	G150D	probably damaging	Het
Pitpnm2	A	G	5: 124,263,360 (GRCm39)		probably null	Het
Pld5	T	C	1: 176,102,301 (GRCm39)	Q47R	possibly damaging	Het
Ppp2r5d	T	C	17: 46,997,206 (GRCm39)	S329G	possibly damaging	Het
Psg28	A	T	7: 18,161,769 (GRCm39)	Y245N	possibly damaging	Het
Ptpn3	C	T	4: 57,239,625 (GRCm39)	V302I	probably damaging	Het
Ptprn2	A	G	12: 117,125,347 (GRCm39)	H627R	probably benign	Het
Rasgrp2	A	T	19: 6,454,838 (GRCm39)	H226L	possibly damaging	Het
Rbm20	C	T	19: 53,839,930 (GRCm39)	T973M	probably benign	Het
Rigi	T	A	4: 40,205,938 (GRCm39)	I885F	probably benign	Het
Riok2	T	A	17: 17,598,045 (GRCm39)	L44Q	probably damaging	Het
Rusc1	G	T	3: 88,998,805 (GRCm39)	Q326K	possibly damaging	Het
Rxylt1	A	T	10: 121,917,523 (GRCm39)	L330*	probably null	Het
Sart3	A	T	5: 113,892,307 (GRCm39)	H397Q	possibly damaging	Het
Sec31b	T	A	19: 44,506,147 (GRCm39)	T920S	probably damaging	Het
Serpinb13	A	G	1: 106,926,679 (GRCm39)	E225G	probably damaging	Het
Slc25a47	T	C	12: 108,821,386 (GRCm39)	L165P	probably damaging	Het
Slc2a10	G	A	2: 165,357,197 (GRCm39)	V286I	probably benign	Het
Slc39a13	G	T	2: 90,895,979 (GRCm39)	T174N	probably benign	Het
Slc7a13	T	A	4: 19,839,364 (GRCm39)	N322K	probably benign	Het
Stk38	T	C	17: 29,193,620 (GRCm39)	T326A	possibly damaging	Het
Sult1a1	T	C	7: 126,272,622 (GRCm39)	M244V	probably benign	Het
Tas2r144	C	T	6: 42,192,800 (GRCm39)	T180I	probably damaging	Het
Tbc1d12	T	A	19: 38,887,346 (GRCm39)	M366K	probably benign	Het
Terb1	T	C	8: 105,221,959 (GRCm39)	I147V	possibly damaging	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Tnxb	C	A	17: 34,901,170 (GRCm39)	L995I	possibly damaging	Het
Trim34b	A	G	7: 103,978,794 (GRCm39)	T14A	possibly damaging	Het
Urb1	T	C	16: 90,588,054 (GRCm39)	E418G	probably damaging	Het
Vmn1r12	T	A	6: 57,136,550 (GRCm39)	C216S	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,249 (GRCm39)	V16E	possibly damaging	Het
Vps11	A	T	9: 44,265,803 (GRCm39)	V492D	probably damaging	Het
Wdr62	A	C	7: 29,969,869 (GRCm39)		probably null	Het
Zc3h14	T	A	12: 98,746,408 (GRCm39)	M539K	probably benign	Het
Zfp871	A	T	17: 32,994,289 (GRCm39)	H295Q	probably damaging	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
R5095:Prss56	UTSW	1	87,115,833 (GRCm39)	missense	probably damaging	1.00
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
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'- GACGCCGTTTCTGCCATTCTAG -3'
(R):5'- TGATGTTCTCCTACCCTGGG -3'

Sequencing Primer
(F):5'- CTGCCATTCTAGTACAATGTGGAG -3'
(R):5'- ACCCTGGGATCCCTCACC -3'

Posted On

2019-06-26