Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01764:Prss32'

153629

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: 0.074) question?

Stock #

IGL01764

Quality Score

Status

Chromosome

Chromosomal Location

24072746-24078750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24075085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 145 (D145G)

Ref Sequence

ENSEMBL: ENSMUSP00000050389 (fasta)

Gene Model

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

AlphaFold

E9Q409

Predicted Effect

probably damaging
Transcript: ENSMUST00000061725
AA Change: D145G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050389
Gene: ENSMUSG00000048992
AA Change: D145G

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

probably benign
Transcript: ENSMUST00000154347

SMART Domains

Protein: ENSMUSP00000116979
Gene: ENSMUSG00000048992

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 86,909,910 (GRCm39)	M1L	probably benign	Het
BC025920	T	A	10: 81,444,984 (GRCm39)	Y36N	probably damaging	Het
Cdk11b	G	A	4: 155,713,260 (GRCm39)	R112H	possibly damaging	Het
Ctu2	G	A	8: 123,206,161 (GRCm39)		probably benign	Het
Ddx56	A	C	11: 6,215,692 (GRCm39)	V219G	probably null	Het
Dnah14	T	C	1: 181,572,342 (GRCm39)	V2891A	probably benign	Het
Fbn2	G	T	18: 58,178,423 (GRCm39)	N1938K	probably damaging	Het
Fbxw20	A	G	9: 109,052,427 (GRCm39)	M302T	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gpat2	T	C	2: 127,269,456 (GRCm39)	I36T	probably benign	Het
Gsta5	A	T	9: 78,211,789 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,295,642 (GRCm39)	E2617G	possibly damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Krba1	C	T	6: 48,392,770 (GRCm39)	R895W	probably benign	Het
Large2	G	T	2: 92,197,531 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,587,454 (GRCm39)	V165M	unknown	Het
Mapk1	T	A	16: 16,801,597 (GRCm39)	M36K	possibly damaging	Het
Nf1	A	G	11: 79,275,013 (GRCm39)	T25A	probably benign	Het
Nrxn3	G	A	12: 90,171,524 (GRCm39)	V1316I	possibly damaging	Het
Pik3r4	G	A	9: 105,562,321 (GRCm39)		probably benign	Het
Plekhh1	G	T	12: 79,101,679 (GRCm39)	A250S	probably benign	Het
Polr3g	G	A	13: 81,830,238 (GRCm39)	T145M	possibly damaging	Het
Rab11fip3	T	C	17: 26,287,667 (GRCm39)	K162R	probably benign	Het
Spag7	A	G	11: 70,554,933 (GRCm39)		probably benign	Het
Spata2l	T	A	8: 123,960,914 (GRCm39)	Q125L	probably benign	Het
Tlr9	G	T	9: 106,103,004 (GRCm39)	C765F	probably damaging	Het
Trip11	A	T	12: 101,850,890 (GRCm39)	I773N	probably damaging	Het
Vcan	T	G	13: 89,873,507 (GRCm39)	T116P	probably damaging	Het
Vmn2r22	C	T	6: 123,627,379 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,052,556 (GRCm39)	I70T	probably benign	Het
Zfp938	T	A	10: 82,063,624 (GRCm39)		probably benign	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
IGL01593:Prss32	APN	17	24,074,982 (GRCm39)	missense	probably benign	0.01
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

2014-02-04