Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02096:Prss27'

281124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss27

Ensembl Gene

ENSMUSG00000050762

Gene Name

serine protease 27

Synonyms

Pancreasin, Mpn, marapsin, CAPH2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02096

Quality Score

Status

Chromosome

Chromosomal Location

24257217-24264923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24263951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 212 (K212N)

Ref Sequence

ENSEMBL: ENSMUSP00000056483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017090] [ENSMUST00000059482]

AlphaFold

Q8BJR6

Predicted Effect

probably benign
Transcript: ENSMUST00000017090

SMART Domains

Protein: ENSMUSP00000017090
Gene: ENSMUSG00000016946

Domain	Start	End	E-Value	Type
low complexity region	8	31	N/A	INTRINSIC
BTB	44	146	2.76e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059482
AA Change: K212N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762
AA Change: K212N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Tryp_SPc	37	275	2.29e-92	SMART
low complexity region	283	301	N/A	INTRINSIC

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 is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a gene trap allele develop normally and are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,993,359 (GRCm39)	L1584P	probably damaging	Het
Abca9	G	T	11: 110,056,806 (GRCm39)	H5N	probably benign	Het
Acox1	A	T	11: 116,069,024 (GRCm39)	I371N	probably damaging	Het
Aopep	C	A	13: 63,208,903 (GRCm39)	A340E	probably benign	Het
Bmp5	A	G	9: 75,805,833 (GRCm39)	N445S	probably damaging	Het
Cacna1b	G	T	2: 24,568,927 (GRCm39)	A999E	probably benign	Het
Cdc27	A	T	11: 104,419,394 (GRCm39)		probably benign	Het
Dmxl2	T	C	9: 54,308,349 (GRCm39)	E2134G	possibly damaging	Het
Dnttip2	A	G	3: 122,078,062 (GRCm39)	N698S	possibly damaging	Het
Duox1	A	T	2: 122,174,655 (GRCm39)	K1271M	probably damaging	Het
Dync1h1	T	C	12: 110,599,254 (GRCm39)	Y1870H	possibly damaging	Het
Edem3	A	G	1: 151,680,470 (GRCm39)	T532A	probably benign	Het
Epx	A	T	11: 87,760,294 (GRCm39)	L440Q	probably damaging	Het
F11	A	G	8: 45,699,791 (GRCm39)	F432L	probably benign	Het
Fam185a	C	A	5: 21,630,341 (GRCm39)	P59Q	probably damaging	Het
Fsip2	A	G	2: 82,822,204 (GRCm39)	D5979G	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Gtf3c1	T	A	7: 125,258,284 (GRCm39)	Q1262L	probably damaging	Het
Hmmr	A	T	11: 40,598,256 (GRCm39)	V652E	probably benign	Het
Iapp	A	T	6: 142,249,199 (GRCm39)	N84I	probably benign	Het
Katnip	G	A	7: 125,413,993 (GRCm39)	C379Y	probably benign	Het
Mmp17	C	T	5: 129,675,752 (GRCm39)	Q304*	probably null	Het
Mpl	T	C	4: 118,314,333 (GRCm39)	T55A	possibly damaging	Het
Mst1r	G	A	9: 107,794,478 (GRCm39)	R1219H	probably damaging	Het
Muc6	T	A	7: 141,226,117 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,831,915 (GRCm39)	V120I	probably benign	Het
Nt5dc1	A	T	10: 34,275,806 (GRCm39)	C134*	probably null	Het
Obscn	A	C	11: 58,971,530 (GRCm39)	N2228K	probably damaging	Het
Or2n1c	T	A	17: 38,520,074 (GRCm39)	*313R	probably null	Het
Osbpl10	T	C	9: 115,046,062 (GRCm39)	M566T	possibly damaging	Het
Pabpc1l	G	A	2: 163,886,267 (GRCm39)	V466I	probably benign	Het
Pdcd11	T	G	19: 47,094,860 (GRCm39)	V548G	probably benign	Het
Ranbp2	T	A	10: 58,297,789 (GRCm39)	S399T	probably damaging	Het
Rgs19	A	G	2: 181,331,076 (GRCm39)	S159P	probably damaging	Het
Sh2b1	A	G	7: 126,068,465 (GRCm39)	S449P	probably damaging	Het
Slc6a18	T	A	13: 73,820,870 (GRCm39)	Y238F	probably benign	Het
Stx11	T	C	10: 12,817,224 (GRCm39)	I167V	probably benign	Het
Sucnr1	A	G	3: 59,994,371 (GRCm39)	M300V	possibly damaging	Het
Synj2	A	G	17: 6,040,628 (GRCm39)	T235A	probably damaging	Het
Ubxn2b	T	A	4: 6,214,749 (GRCm39)	I261N	probably damaging	Het
Vmn2r43	G	A	7: 8,260,512 (GRCm39)		probably benign	Het
Vmn2r45	A	G	7: 8,484,443 (GRCm39)	M454T	probably damaging	Het
Vsig2	T	A	9: 37,451,251 (GRCm39)	S51T	probably damaging	Het
Wdr41	T	C	13: 95,153,964 (GRCm39)		probably benign	Het
Wdr6	A	C	9: 108,453,752 (GRCm39)	L44V	probably damaging	Het
Zfp1001	T	C	2: 150,165,634 (GRCm39)	Y5H	probably damaging	Het
Zfp592	T	C	7: 80,674,796 (GRCm39)	Y587H	probably damaging	Het
Zfp735	A	T	11: 73,602,254 (GRCm39)	K399N	probably benign	Het

Other mutations in Prss27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Prss27	APN	17	24,257,345 (GRCm39)	splice site	probably benign
IGL01633:Prss27	APN	17	24,264,650 (GRCm39)	missense	probably damaging	1.00
IGL02318:Prss27	APN	17	24,264,571 (GRCm39)	missense	probably benign	0.01
IGL02491:Prss27	APN	17	24,263,229 (GRCm39)	splice site	probably benign
IGL02715:Prss27	APN	17	24,263,953 (GRCm39)	missense	possibly damaging	0.94
R1582:Prss27	UTSW	17	24,263,877 (GRCm39)	missense	probably benign	0.11
R5078:Prss27	UTSW	17	24,263,414 (GRCm39)	nonsense	probably null
R5468:Prss27	UTSW	17	24,257,287 (GRCm39)	missense	possibly damaging	0.53
R6415:Prss27	UTSW	17	24,261,882 (GRCm39)	nonsense	probably null
R6450:Prss27	UTSW	17	24,263,988 (GRCm39)	nonsense	probably null
R6477:Prss27	UTSW	17	24,263,235 (GRCm39)	missense	probably damaging	1.00
R7143:Prss27	UTSW	17	24,264,632 (GRCm39)	missense	probably damaging	1.00
R7285:Prss27	UTSW	17	24,264,665 (GRCm39)	missense	probably benign	0.01
R7447:Prss27	UTSW	17	24,264,683 (GRCm39)	missense	probably damaging	1.00
R7825:Prss27	UTSW	17	24,261,932 (GRCm39)	missense	probably damaging	1.00
R8240:Prss27	UTSW	17	24,263,919 (GRCm39)	missense	probably benign	0.04
R9371:Prss27	UTSW	17	24,257,141 (GRCm39)	start gained	probably benign
R9767:Prss27	UTSW	17	24,257,283 (GRCm39)	start codon destroyed	probably null	0.33

Posted On

2015-04-16