Mutagenetix > Incidental Mutation

Incidental Mutation 'R8747:Prss54'

663609

Institutional Source

Beutler Lab

Gene Symbol

Prss54

Ensembl Gene

ENSMUSG00000048400

Gene Name

serine protease 54

Synonyms

4931432M23Rik

MMRRC Submission

068618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96285694-96302965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96286351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 241 (F241L)

Ref Sequence

ENSEMBL: ENSMUSP00000058859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041569] [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000213096]

AlphaFold

Q7M756

Predicted Effect

probably benign
Transcript: ENSMUST00000041569

SMART Domains

Protein: ENSMUSP00000049497
Gene: ENSMUSG00000036598

Domain	Start	End	E-Value	Type
coiled coil region	95	139	N/A	INTRINSIC
Pfam:DUF4201	178	354	6.2e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052690
AA Change: F241L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: F241L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.88e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180075
AA Change: F241L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: F241L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	28	253	1.63e-15	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213096
AA Change: F241L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,240 (GRCm39)	D190G	probably benign	Het
Abhd11	A	G	5: 135,040,760 (GRCm39)	I271V	possibly damaging	Het
Akap6	T	G	12: 53,188,999 (GRCm39)	S2138A	probably benign	Het
Amn	C	A	12: 111,241,440 (GRCm39)	P235H	probably damaging	Het
Arf2	A	T	11: 103,859,975 (GRCm39)	M18L	probably benign	Het
Asic2	A	T	11: 81,043,233 (GRCm39)	F20Y	possibly damaging	Het
Bok	T	C	1: 93,622,664 (GRCm39)		probably null	Het
Cachd1	T	A	4: 100,860,045 (GRCm39)		probably benign	Het
Casp8	A	G	1: 58,883,617 (GRCm39)	N308S	probably benign	Het
Cavin3	G	T	7: 105,131,154 (GRCm39)	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,891,646 (GRCm39)	I713V	probably benign	Het
Clcn6	A	T	4: 148,093,354 (GRCm39)		probably null	Het
Cmas	T	C	6: 142,716,927 (GRCm39)	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,610,378 (GRCm39)	D65V	probably damaging	Het
D130040H23Rik	C	A	8: 69,755,705 (GRCm39)	N387K	probably benign	Het
Depp1	T	A	6: 116,629,122 (GRCm39)	L155Q	possibly damaging	Het
Dnah9	T	C	11: 65,818,816 (GRCm39)	K3174R	possibly damaging	Het
Ecpas	C	T	4: 58,828,632 (GRCm39)	V934I	probably damaging	Het
Efcab14	A	G	4: 115,603,793 (GRCm39)	N157S	probably damaging	Het
Ets1	G	A	9: 32,641,474 (GRCm39)	G109D	probably damaging	Het
Fbln5	G	A	12: 101,734,754 (GRCm39)	R173C	probably damaging	Het
Fchsd1	G	A	18: 38,096,035 (GRCm39)	P525L	probably benign	Het
Gmppa	G	A	1: 75,416,025 (GRCm39)	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,603,482 (GRCm39)	D182G		Het
Ift140	T	A	17: 25,254,809 (GRCm39)	S430T	probably benign	Het
Kat7	G	C	11: 95,185,392 (GRCm39)	C161W	probably damaging	Het
Lipk	T	A	19: 33,996,184 (GRCm39)	M32K	probably damaging	Het
Lum	A	T	10: 97,404,351 (GRCm39)	D82V	possibly damaging	Het
Macf1	C	A	4: 123,248,944 (GRCm39)	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,964,782 (GRCm39)	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555 (GRCm39)	R549I	probably damaging	Het
Nfu1	T	C	6: 86,996,400 (GRCm39)	I117T	probably damaging	Het
Or51f1	T	C	7: 102,506,139 (GRCm39)	T117A	probably benign	Het
Or7a39	A	G	10: 78,715,155 (GRCm39)	T50A	probably benign	Het
Parp1	T	C	1: 180,422,275 (GRCm39)	L778P	probably damaging	Het
Pbld2	G	T	10: 62,888,069 (GRCm39)	V125F	probably benign	Het
Prkag2	A	G	5: 25,085,680 (GRCm39)		probably null	Het
Rnf121	T	C	7: 101,678,316 (GRCm39)	D177G	probably damaging	Het
Slc12a7	G	A	13: 73,933,241 (GRCm39)	V100I	probably benign	Het
Slc28a1	C	T	7: 80,774,719 (GRCm39)	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,488,219 (GRCm39)	Q16R	probably damaging	Het
Snap91	A	G	9: 86,686,577 (GRCm39)	F354L	probably damaging	Het
Steap2	A	G	5: 5,723,539 (GRCm39)	I447T	probably benign	Het
Tagap	T	A	17: 8,147,602 (GRCm39)	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,387,318 (GRCm39)	D259G	probably benign	Het
Tgm3	T	C	2: 129,886,452 (GRCm39)	S558P	probably benign	Het
Tuba3a	A	G	6: 125,258,018 (GRCm39)	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232 (GRCm39)	I61L	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,451 (GRCm39)	T252A	probably benign	Het
Vmp1	A	G	11: 86,492,885 (GRCm39)	V308A	probably damaging	Het
Wdfy4	A	C	14: 32,874,611 (GRCm39)	V159G		Het
Zfp180	A	G	7: 23,804,687 (GRCm39)	T369A	possibly damaging	Het
Zfp827	A	G	8: 79,755,316 (GRCm39)	M1V	probably null	Het
Zmym4	A	G	4: 126,787,198 (GRCm39)	I1031T	probably damaging	Het

Other mutations in Prss54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02340:Prss54	APN	8	96,292,237 (GRCm39)	missense	probably benign	0.17
IGL02598:Prss54	APN	8	96,292,337 (GRCm39)	missense	probably damaging	0.99
IGL03085:Prss54	APN	8	96,292,258 (GRCm39)	missense	probably benign	0.02
R0324:Prss54	UTSW	8	96,292,295 (GRCm39)	missense	probably benign	0.00
R0733:Prss54	UTSW	8	96,286,368 (GRCm39)	missense	possibly damaging	0.90
R1487:Prss54	UTSW	8	96,286,276 (GRCm39)	missense	probably benign	0.01
R2272:Prss54	UTSW	8	96,297,735 (GRCm39)	nonsense	probably null
R4769:Prss54	UTSW	8	96,286,003 (GRCm39)	missense	probably benign
R5275:Prss54	UTSW	8	96,291,106 (GRCm39)	missense	probably damaging	1.00
R5295:Prss54	UTSW	8	96,291,106 (GRCm39)	missense	probably damaging	1.00
R6117:Prss54	UTSW	8	96,292,086 (GRCm39)	splice site	probably null
R6167:Prss54	UTSW	8	96,286,173 (GRCm39)	missense	possibly damaging	0.71
R6791:Prss54	UTSW	8	96,291,283 (GRCm39)	splice site	probably null
R7179:Prss54	UTSW	8	96,292,199 (GRCm39)	missense	probably benign	0.03
R7261:Prss54	UTSW	8	96,286,367 (GRCm39)	missense	probably benign	0.02
R7864:Prss54	UTSW	8	96,286,297 (GRCm39)	missense	probably benign	0.22
R8284:Prss54	UTSW	8	96,285,994 (GRCm39)	nonsense	probably null
R8318:Prss54	UTSW	8	96,291,094 (GRCm39)	missense	probably damaging	0.99
R8780:Prss54	UTSW	8	96,286,057 (GRCm39)	missense	probably benign
R9004:Prss54	UTSW	8	96,292,137 (GRCm39)	missense	possibly damaging	0.62
Z1177:Prss54	UTSW	8	96,291,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACATTCTTTGCCCTTGGG -3'
(R):5'- ATGCAAGGCTTTCTAAAACAGACAC -3'

Sequencing Primer
(F):5'- TGGGGCCATTCAGCATAGG -3'
(R):5'- CACTGGTACAAGGGATCTACTG -3'

Posted On

2021-03-08