Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02952:Prss22'

364967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss22

Ensembl Gene

ENSMUSG00000045027

Gene Name

serine protease 22

Synonyms

BSSP-4, 4733401N09Rik, SP001LA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02952

Quality Score

Status

Chromosome

Chromosomal Location

24212508-24217074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24215697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 75 (C75F)

Ref Sequence

ENSEMBL: ENSMUSP00000039808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041649]

AlphaFold

Q9ER10

Predicted Effect

probably damaging
Transcript: ENSMUST00000041649
AA Change: C75F

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

SMART Domains

Protein: ENSMUSP00000039808
Gene: ENSMUSG00000045027
AA Change: C75F

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Tryp_SPc	49	285	7.74e-90	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,984 (GRCm39)	D1436V	probably damaging	Het
Abca7	G	T	10: 79,843,242 (GRCm39)	R1239L	probably damaging	Het
Acp2	T	C	2: 91,038,788 (GRCm39)		probably benign	Het
Adamts4	A	G	1: 171,078,917 (GRCm39)	N179S	probably damaging	Het
Adgrv1	T	C	13: 81,581,755 (GRCm39)	D4763G	probably benign	Het
Atp11b	T	C	3: 35,882,844 (GRCm39)	V633A	probably damaging	Het
Cadm2	A	T	16: 66,461,338 (GRCm39)	I342K	probably damaging	Het
Capn10	T	C	1: 92,872,896 (GRCm39)	S541P	probably damaging	Het
Ccnf	A	G	17: 24,450,299 (GRCm39)	L462P	possibly damaging	Het
Cdc27	T	C	11: 104,408,290 (GRCm39)	Y546C	probably damaging	Het
Cep120	G	T	18: 53,816,300 (GRCm39)		probably benign	Het
Cetn2	T	C	X: 71,957,808 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,609,993 (GRCm39)	S469L	probably benign	Het
Dnah17	G	A	11: 117,979,094 (GRCm39)	T1766I	probably benign	Het
Doc2g	G	A	19: 4,056,719 (GRCm39)	G345D	possibly damaging	Het
Dock4	T	C	12: 40,760,902 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,414,975 (GRCm39)		probably benign	Het
Emilin2	C	A	17: 71,587,816 (GRCm39)	V99F	probably damaging	Het
Exoc8	A	G	8: 125,624,275 (GRCm39)	S31P	probably benign	Het
Gask1b	T	C	3: 79,793,646 (GRCm39)	L38P	probably damaging	Het
Gm3115	T	C	14: 4,084,302 (GRCm38)		probably benign	Het
Gm9742	T	A	13: 8,079,930 (GRCm39)		noncoding transcript	Het
Gpr160	T	C	3: 30,950,443 (GRCm39)	Y172H	probably benign	Het
Ifnk	T	A	4: 35,152,495 (GRCm39)	L141Q	probably damaging	Het
Klhl36	A	G	8: 120,597,223 (GRCm39)	E308G	probably benign	Het
Lrp1b	T	C	2: 41,396,715 (GRCm39)	I450M	probably benign	Het
Noxa1	T	C	2: 24,981,773 (GRCm39)	Y110C	probably damaging	Het
Or10ad1	T	C	15: 98,105,470 (GRCm39)	Y265C	probably damaging	Het
Pkd2	A	T	5: 104,628,026 (GRCm39)	T367S	possibly damaging	Het
Polg2	T	C	11: 106,663,539 (GRCm39)	I385V	possibly damaging	Het
Ppp1r14bl	A	T	1: 23,141,071 (GRCm39)	I81N	probably damaging	Het
Prr14l	A	G	5: 32,993,014 (GRCm39)	S17P	unknown	Het
Ptgs1	A	G	2: 36,141,253 (GRCm39)	K567E	probably benign	Het
Ptprz1	A	G	6: 23,036,925 (GRCm39)	I1141M	probably damaging	Het
R3hcc1l	A	G	19: 42,552,433 (GRCm39)	K477E	probably damaging	Het
Riok1	A	G	13: 38,232,866 (GRCm39)	Y194C	probably damaging	Het
Smr2	T	A	5: 88,236,095 (GRCm39)	C16S	possibly damaging	Het
Stk25	A	T	1: 93,553,798 (GRCm39)	I187N	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Vmn2r3	T	C	3: 64,186,256 (GRCm39)	E143G	probably damaging	Het

Other mutations in Prss22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02112:Prss22	APN	17	24,212,945 (GRCm39)	missense	probably damaging	1.00
IGL02247:Prss22	APN	17	24,215,363 (GRCm39)	missense	probably benign	0.00
G1Funyon:Prss22	UTSW	17	24,212,955 (GRCm39)	missense	probably damaging	1.00
R0201:Prss22	UTSW	17	24,215,275 (GRCm39)	missense	probably damaging	1.00
R0387:Prss22	UTSW	17	24,212,903 (GRCm39)	missense	probably damaging	1.00
R0635:Prss22	UTSW	17	24,215,662 (GRCm39)	missense	probably benign	0.05
R1767:Prss22	UTSW	17	24,215,331 (GRCm39)	missense	probably benign	0.34
R1851:Prss22	UTSW	17	24,215,288 (GRCm39)	missense	probably damaging	1.00
R1994:Prss22	UTSW	17	24,215,288 (GRCm39)	missense	probably damaging	1.00
R2144:Prss22	UTSW	17	24,213,656 (GRCm39)	missense	probably damaging	1.00
R2240:Prss22	UTSW	17	24,215,755 (GRCm39)	missense	probably damaging	1.00
R4108:Prss22	UTSW	17	24,212,847 (GRCm39)	missense	probably benign
R6299:Prss22	UTSW	17	24,215,408 (GRCm39)	missense	probably damaging	0.96
R7358:Prss22	UTSW	17	24,215,419 (GRCm39)	missense	probably benign	0.06
R7487:Prss22	UTSW	17	24,216,971 (GRCm39)	missense	probably damaging	0.98
R7765:Prss22	UTSW	17	24,213,592 (GRCm39)	missense	probably damaging	1.00
R7857:Prss22	UTSW	17	24,212,853 (GRCm39)	missense	probably damaging	1.00
R8119:Prss22	UTSW	17	24,213,701 (GRCm39)	nonsense	probably null
R8301:Prss22	UTSW	17	24,212,955 (GRCm39)	missense	probably damaging	1.00
R8466:Prss22	UTSW	17	24,215,802 (GRCm39)	missense	probably benign	0.22
R8815:Prss22	UTSW	17	24,215,662 (GRCm39)	missense	probably benign	0.05
R9183:Prss22	UTSW	17	24,213,592 (GRCm39)	missense	probably damaging	1.00
R9447:Prss22	UTSW	17	24,212,837 (GRCm39)	missense	probably benign
R9483:Prss22	UTSW	17	24,215,721 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18