Mutagenetix > Incidental Mutation

Incidental Mutation 'R4108:Prss22'

321501

Institutional Source

Beutler Lab

Gene Symbol

Prss22

Ensembl Gene

ENSMUSG00000045027

Gene Name

serine protease 22

Synonyms

BSSP-4, 4733401N09Rik, SP001LA

MMRRC Submission

040987-MU

Accession Numbers

Essential gene?

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

Stock #

R4108 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24212508-24217074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24212847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 297 (Y297H)

Ref Sequence

ENSEMBL: ENSMUSP00000039808 (fasta)

Gene Model

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

AlphaFold

Q9ER10

Predicted Effect

probably benign
Transcript: ENSMUST00000041649
AA Change: Y297H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039808
Gene: ENSMUSG00000045027
AA Change: Y297H

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (65/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,796 (GRCm39)	Y82C	probably damaging	Het
4930579F01Rik	T	C	3: 137,889,431 (GRCm39)	N62S	probably benign	Het
Acad10	G	T	5: 121,769,527 (GRCm39)	S643Y	probably damaging	Het
Acox3	T	C	5: 35,758,896 (GRCm39)	F369S	probably damaging	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Atp4b	A	G	8: 13,446,640 (GRCm39)		probably null	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Caskin1	C	A	17: 24,721,121 (GRCm39)	T487K	probably benign	Het
Ccr7	C	T	11: 99,036,204 (GRCm39)	M239I	probably damaging	Het
Cdh23	C	A	10: 60,246,601 (GRCm39)	V944L	possibly damaging	Het
Cenpf	A	G	1: 189,416,065 (GRCm39)	S87P	probably damaging	Het
Chd9	A	T	8: 91,737,304 (GRCm39)	D1461V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,353,136 (GRCm39)	M102K	probably damaging	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Dtx4	G	A	19: 12,478,487 (GRCm39)	A32V	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Eml6	A	C	11: 29,755,136 (GRCm39)	S880A	probably damaging	Het
Fsd2	C	T	7: 81,194,715 (GRCm39)	V483I	probably benign	Het
Inf2	T	C	12: 112,574,015 (GRCm39)	L773P	unknown	Het
Kif26b	A	G	1: 178,744,530 (GRCm39)	Q1095R	possibly damaging	Het
Leprotl1	A	G	8: 34,607,913 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 40,555,099 (GRCm39)	V340A	unknown	Het
Myh1	T	C	11: 67,102,403 (GRCm39)	V898A	probably benign	Het
Ncstn	G	T	1: 171,900,111 (GRCm39)	N254K	probably damaging	Het
Nfatc1	T	A	18: 80,741,583 (GRCm39)	H139L	possibly damaging	Het
Nfe2l1	C	T	11: 96,710,220 (GRCm39)		probably null	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2b6	A	G	13: 21,822,952 (GRCm39)	V247A	probably damaging	Het
Or7g26	T	A	9: 19,230,608 (GRCm39)	Y265*	probably null	Het
Otogl	C	T	10: 107,607,105 (GRCm39)	V2093I	probably benign	Het
Phc2	A	G	4: 128,601,776 (GRCm39)	Y77C	probably damaging	Het
Pik3c2g	C	A	6: 139,676,096 (GRCm39)	A80E	probably benign	Het
Plxnd1	G	T	6: 115,936,276 (GRCm39)	H1675N	probably damaging	Het
Pou4f3	A	G	18: 42,528,987 (GRCm39)	K310R	probably damaging	Het
Ppp1r12c	T	C	7: 4,489,565 (GRCm39)	D199G	probably damaging	Het
Psmb7	T	A	2: 38,532,211 (GRCm39)	H78L	probably damaging	Het
Rad51ap2	T	C	12: 11,508,396 (GRCm39)	C773R	probably damaging	Het
Rpl12	A	T	2: 32,851,836 (GRCm39)	N8Y	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sbf1	T	C	15: 89,172,788 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Setd1a	G	A	7: 127,398,374 (GRCm39)		probably benign	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,221,351 (GRCm39)	V266I	possibly damaging	Het
Smtn	G	A	11: 3,476,449 (GRCm39)	T144I	probably benign	Het
Spta1	A	G	1: 174,002,122 (GRCm39)	N84S	probably benign	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Supt16	T	C	14: 52,400,188 (GRCm39)	E985G	probably damaging	Het
Tbcd	T	A	11: 121,384,637 (GRCm39)	H39Q	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Tsg101	T	A	7: 46,542,242 (GRCm39)	D99V	probably damaging	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het
Ubald1	C	A	16: 4,693,731 (GRCm39)	M61I	probably benign	Het
Ush1c	C	T	7: 45,847,869 (GRCm39)	D465N	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps54	A	G	11: 21,262,877 (GRCm39)	I655V	probably benign	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
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

Predicted Primers

Posted On

2015-06-12