Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01593:Prss32'

91638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss32

Ensembl Gene

ENSMUSG00000048992

Gene Name

serine protease 32

Synonyms

mT5, 2010001P08Rik, tryptase-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

24072746-24078750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24074982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 111 (T111A)

Ref Sequence

ENSEMBL: ENSMUSP00000050389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061725] [ENSMUST00000154347]

AlphaFold

E9Q409

Predicted Effect

probably benign
Transcript: ENSMUST00000061725
AA Change: T111A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: T111A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	24	34	N/A	INTRINSIC
Tryp_SPc	53	292	2.75e-95	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144925

Predicted Effect

unknown
Transcript: ENSMUST00000154347
AA Change: Y81C

SMART Domains

Protein: ENSMUSP00000116979
Gene: ENSMUSG00000048992
AA Change: Y81C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	24	34	N/A	INTRINSIC
SCOP:g1fiw.1	42	68	6e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161395

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,279 (GRCm39)	I310N	probably damaging	Het
Abtb3	T	A	10: 85,490,339 (GRCm39)		probably benign	Het
Ackr4	C	T	9: 103,963,130 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,782,590 (GRCm39)	D346E	probably benign	Het
Asap2	G	T	12: 21,263,203 (GRCm39)	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436 (GRCm39)	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,727 (GRCm39)	F224I	probably damaging	Het
Bnc2	T	C	4: 84,194,478 (GRCm39)		probably null	Het
Cd33	A	G	7: 43,179,705 (GRCm39)	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,769,474 (GRCm39)		probably null	Het
Dym	C	T	18: 75,247,852 (GRCm39)		probably benign	Het
Enpp5	A	G	17: 44,391,612 (GRCm39)	T14A	probably benign	Het
Ggt1	T	C	10: 75,421,121 (GRCm39)		probably null	Het
Gm17541	T	A	12: 4,739,868 (GRCm39)		probably benign	Het
Gpr39	A	T	1: 125,605,188 (GRCm39)	I39F	probably benign	Het
Kcnb1	G	T	2: 166,948,127 (GRCm39)	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,788,766 (GRCm39)	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,694,125 (GRCm39)	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,163,483 (GRCm39)	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,528,723 (GRCm39)		probably null	Het
Nckap1	A	T	2: 80,350,914 (GRCm39)	M725K	probably benign	Het
Odad2	T	C	18: 7,127,345 (GRCm39)	K956R	probably benign	Het
Or2b7	T	A	13: 21,739,389 (GRCm39)	I268F	probably damaging	Het
Pole2	C	T	12: 69,269,873 (GRCm39)		probably null	Het
Rgs9	A	G	11: 109,139,875 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,835,654 (GRCm39)	C361R	probably damaging	Het
Ston1	G	A	17: 88,944,438 (GRCm39)	G615R	probably null	Het
Tas2r139	T	G	6: 42,117,891 (GRCm39)	W8G	probably benign	Het
Tmem101	A	T	11: 102,046,704 (GRCm39)	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,646,666 (GRCm39)		probably null	Het
Uba2	A	G	7: 33,845,689 (GRCm39)	V478A	probably damaging	Het
Vps13a	T	C	19: 16,739,545 (GRCm39)	D52G	probably damaging	Het

Other mutations in Prss32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Prss32	APN	17	24,076,336 (GRCm39)	missense	probably damaging	1.00
IGL00942:Prss32	APN	17	24,078,134 (GRCm39)	nonsense	probably null
IGL01764:Prss32	APN	17	24,075,085 (GRCm39)	missense	probably damaging	1.00
IGL02313:Prss32	APN	17	24,075,096 (GRCm39)	missense	probably benign	0.17
IGL02625:Prss32	APN	17	24,075,210 (GRCm39)	missense	possibly damaging	0.92
P0045:Prss32	UTSW	17	24,078,294 (GRCm39)	missense	probably benign	0.23
R1867:Prss32	UTSW	17	24,072,868 (GRCm39)	missense	probably benign	0.07
R1936:Prss32	UTSW	17	24,075,024 (GRCm39)	missense	possibly damaging	0.84
R2184:Prss32	UTSW	17	24,078,297 (GRCm39)	missense	probably benign	0.38
R4913:Prss32	UTSW	17	24,078,157 (GRCm39)	missense	probably damaging	1.00
R5049:Prss32	UTSW	17	24,078,221 (GRCm39)	missense	possibly damaging	0.68
R7076:Prss32	UTSW	17	24,072,895 (GRCm39)	missense	possibly damaging	0.54
R9135:Prss32	UTSW	17	24,078,199 (GRCm39)	missense	possibly damaging	0.56

Posted On

2013-12-09