Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Prss54'

163535

Institutional Source

Beutler Lab

Gene Symbol

Prss54

Ensembl Gene

ENSMUSG00000048400

Gene Name

serine protease 54

Synonyms

4931432M23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96285694-96302965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96286276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 266 (S266P)

Ref Sequence

ENSEMBL: ENSMUSP00000148608 (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: S266P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: S266P

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: S266P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: S266P

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

noncoding transcript
Transcript: ENSMUST00000212513

Predicted Effect

probably benign
Transcript: ENSMUST00000213096
AA Change: S266P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly 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
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
R8747:Prss54	UTSW	8	96,286,351 (GRCm39)	missense	probably benign	0.05
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'- TACCCTGAAGTTCTGCCCAGCATC -3'
(R):5'- GGAAGTCTTTCTGAGACCTGAAGCC -3'

Sequencing Primer
(F):5'- AGCATCCTTCTGCTTGTTGG -3'
(R):5'- TGAGACCTGAAGCCTTATTCTG -3'

Posted On

2014-03-28