Mutagenetix > Incidental Mutation

Incidental Mutation 'R8466:Prss22'

656856

Institutional Source

Beutler Lab

Gene Symbol

Prss22

Ensembl Gene

ENSMUSG00000045027

Gene Name

serine protease 22

Synonyms

BSSP-4, 4733401N09Rik, SP001LA

MMRRC Submission

067910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8466 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24212508-24217074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24215802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 40 (D40G)

Ref Sequence

ENSEMBL: ENSMUSP00000039808 (fasta)

Gene Model

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

AlphaFold

Q9ER10

Predicted Effect

probably benign
Transcript: ENSMUST00000041649
AA Change: D40G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039808
Gene: ENSMUSG00000045027
AA Change: D40G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,873 (GRCm39)	E94G	probably benign	Het
Abhd16a	G	T	17: 35,313,236 (GRCm39)	R118L	probably damaging	Het
Adamts1	A	G	16: 85,599,400 (GRCm39)	S67P	probably benign	Het
Adar	C	T	3: 89,658,466 (GRCm39)	P656L	probably damaging	Het
Afg3l1	G	A	8: 124,216,648 (GRCm39)	D296N	probably benign	Het
Akap9	G	A	5: 4,088,659 (GRCm39)	R2096Q	probably damaging	Het
Aldh1a2	T	A	9: 71,160,205 (GRCm39)	I77K	probably benign	Het
Cacnb4	A	C	2: 52,354,679 (GRCm39)	V233G	probably damaging	Het
Cage1	T	A	13: 38,206,987 (GRCm39)	Q286L	probably damaging	Het
Camta1	T	A	4: 151,170,577 (GRCm39)	K1055*	probably null	Het
Ccdc96	C	A	5: 36,642,252 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,160,073 (GRCm39)		probably null	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Ddx24	G	T	12: 103,376,160 (GRCm39)	L779I	probably benign	Het
Dock7	T	C	4: 98,952,336 (GRCm39)	E378G	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Flnc	A	G	6: 29,438,621 (GRCm39)	N172D	probably damaging	Het
Gprin3	C	A	6: 59,331,466 (GRCm39)	Q280H	possibly damaging	Het
Gprin3	T	A	6: 59,331,467 (GRCm39)	Q280L	probably benign	Het
Gucy2d	C	A	7: 98,099,237 (GRCm39)	P351Q	probably damaging	Het
H2-M11	G	A	17: 36,858,985 (GRCm39)	G175D	probably benign	Het
Klhl42	C	T	6: 147,009,241 (GRCm39)	T360M	probably benign	Het
Lama1	G	A	17: 68,120,948 (GRCm39)	E2695K		Het
Lsg1	T	C	16: 30,400,919 (GRCm39)	Q130R	probably benign	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Muc16	T	C	9: 18,554,444 (GRCm39)	T3950A	unknown	Het
Myo1c	G	A	11: 75,549,213 (GRCm39)	R109H	probably damaging	Het
Nol4	C	A	18: 23,171,638 (GRCm39)	A8S	probably benign	Het
Or1e1f	A	T	11: 73,855,913 (GRCm39)	T160S	probably damaging	Het
Or1p1b	A	G	11: 74,131,016 (GRCm39)	I209V	probably benign	Het
Pabpn1l	C	T	8: 123,347,625 (GRCm39)	V216M	possibly damaging	Het
Papln	A	C	12: 83,825,255 (GRCm39)		probably null	Het
Pcsk5	A	T	19: 17,549,864 (GRCm39)	C709*	probably null	Het
Pglyrp3	T	A	3: 91,921,941 (GRCm39)	V3E	probably benign	Het
Pla2g4f	T	C	2: 120,130,963 (GRCm39)	N831D	probably damaging	Het
Prp2rt	T	C	13: 97,235,492 (GRCm39)	D85G	probably damaging	Het
Rap1gap2	A	G	11: 74,316,057 (GRCm39)	F208S	probably benign	Het
Sipa1l2	A	T	8: 126,218,985 (GRCm39)	N117K	probably damaging	Het
Srsf9	G	C	5: 115,465,492 (GRCm39)	R42P	probably benign	Het
Stat3	A	T	11: 100,785,924 (GRCm39)	I451N	probably damaging	Het
Tecrl	A	T	5: 83,428,367 (GRCm39)	Y301*	probably null	Het
Togaram1	T	C	12: 65,033,216 (GRCm39)	S1065P	probably benign	Het
Usp48	T	A	4: 137,350,630 (GRCm39)	L39Q	probably null	Het
Utp20	A	T	10: 88,654,365 (GRCm39)	S241T	probably damaging	Het
Vmn2r50	A	G	7: 9,783,997 (GRCm39)	F159S	probably damaging	Het
Wdr76	A	C	2: 121,341,038 (GRCm39)	N28H	probably damaging	Het
Zfhx2	T	A	14: 55,310,353 (GRCm39)	Y731F	possibly damaging	Het
Zfhx4	A	T	3: 5,307,762 (GRCm39)	E329D	probably damaging	Het
Zswim8	A	T	14: 20,760,744 (GRCm39)	Q83L	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAATAGAGGCCTGGACAGC -3'
(R):5'- CCAGTCCCTGATAACTAAAGGGG -3'

Sequencing Primer
(F):5'- GTCAAAAGCAAGCCTGAGTC -3'
(R):5'- TCCCTGATAACTAAAGGGGACAGG -3'

Posted On

2021-01-18