Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02112:Prss22'

280203

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 #

IGL02112

Quality Score

Status

Chromosome

Chromosomal Location

24212508-24217074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24212945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 264 (E264G)

Ref Sequence

ENSEMBL: ENSMUSP00000039808 (fasta)

Gene Model

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

AlphaFold

Q9ER10

Predicted Effect

probably damaging
Transcript: ENSMUST00000041649
AA Change: E264G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039808
Gene: ENSMUSG00000045027
AA Change: E264G

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,175 (GRCm39)	Y490F	possibly damaging	Het
Appbp2	A	T	11: 85,092,446 (GRCm39)	H271Q	probably benign	Het
Arhgap17	A	T	7: 122,917,640 (GRCm39)	D181E	possibly damaging	Het
Arhgap25	T	A	6: 87,444,919 (GRCm39)	Y286F	possibly damaging	Het
Atf2	T	C	2: 73,649,381 (GRCm39)	K352R	probably damaging	Het
Bdp1	G	A	13: 100,174,308 (GRCm39)	T2076I	probably benign	Het
C1s2	A	G	6: 124,602,267 (GRCm39)	V642A	probably benign	Het
Cldn18	T	A	9: 99,580,128 (GRCm39)	T170S	probably benign	Het
Cntnap5c	T	A	17: 58,620,853 (GRCm39)	H977Q	probably benign	Het
Col15a1	T	A	4: 47,253,985 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,131,719 (GRCm39)	Y1669N	probably benign	Het
Csmd3	A	C	15: 48,177,265 (GRCm39)	S424R	possibly damaging	Het
Cyp4a31	A	G	4: 115,428,180 (GRCm39)	D306G	probably damaging	Het
E2f2	A	G	4: 135,920,145 (GRCm39)	T377A	probably benign	Het
Edil3	A	G	13: 89,328,374 (GRCm39)	D276G	probably damaging	Het
Ei24	A	T	9: 36,693,638 (GRCm39)	Y305N	probably damaging	Het
Erbin	T	C	13: 103,998,844 (GRCm39)	N181D	probably benign	Het
Gli3	A	G	13: 15,837,099 (GRCm39)	Q494R	probably damaging	Het
Gm16519	T	C	17: 71,236,291 (GRCm39)	I80T	probably damaging	Het
Haus8	T	A	8: 71,708,205 (GRCm39)	E163V	probably damaging	Het
Hephl1	G	T	9: 14,993,111 (GRCm39)		probably benign	Het
Hnrnph3	A	G	10: 62,852,184 (GRCm39)		probably null	Het
Liat1	G	T	11: 75,894,214 (GRCm39)	C197F	probably benign	Het
Mast2	A	T	4: 116,176,961 (GRCm39)	C437S	probably damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Mfge8	A	T	7: 78,793,088 (GRCm39)	V126D	probably benign	Het
Nrdc	A	G	4: 108,884,629 (GRCm39)		probably benign	Het
Or7d10	T	A	9: 19,831,821 (GRCm39)	N105K	possibly damaging	Het
Panx2	A	G	15: 88,953,772 (GRCm39)	T576A	probably benign	Het
Per3	T	C	4: 151,113,640 (GRCm39)	Y306C	probably benign	Het
Ppm1h	G	A	10: 122,638,305 (GRCm39)	G192R	possibly damaging	Het
Rasa3	A	G	8: 13,635,042 (GRCm39)		probably benign	Het
Rpl7a-ps8	C	A	7: 19,687,985 (GRCm39)		probably benign	Het
Rundc1	A	G	11: 101,324,425 (GRCm39)	D377G	probably benign	Het
Sh3bp1	T	C	15: 78,790,084 (GRCm39)		probably null	Het
Sobp	A	G	10: 42,897,873 (GRCm39)	S571P	probably benign	Het
Styxl2	C	A	1: 165,927,240 (GRCm39)	E791*	probably null	Het
Syce1	C	A	7: 140,359,545 (GRCm39)	M114I	probably benign	Het
Tdrd6	G	A	17: 43,940,242 (GRCm39)	R269W	probably damaging	Het
Tmprss13	T	C	9: 45,250,702 (GRCm39)	S408P	probably damaging	Het
Tonsl	T	C	15: 76,517,602 (GRCm39)	T706A	probably benign	Het
Tpcn2	A	G	7: 144,810,529 (GRCm39)	S603P	probably benign	Het
Trmt12	A	T	15: 58,744,665 (GRCm39)	Q21L	probably damaging	Het
Vmn1r68	C	T	7: 10,261,787 (GRCm39)	G104S	probably damaging	Het
Vmn2r82	T	C	10: 79,231,833 (GRCm39)	W611R	probably benign	Het
Vmn2r90	C	A	17: 17,932,465 (GRCm39)	T124K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,494 (GRCm39)	E506G	probably null	Het

Other mutations in Prss22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02247:Prss22	APN	17	24,215,363 (GRCm39)	missense	probably benign	0.00
IGL02952:Prss22	APN	17	24,215,697 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16