Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Prss27'

295672

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 #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

24257217-24264923 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 24263229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000059482

SMART Domains

Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Cpsf7	A	G	19: 10,517,001 (GRCm39)	I368V	possibly damaging	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Etv4	A	T	11: 101,674,791 (GRCm39)		probably null	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lpcat2	T	C	8: 93,600,879 (GRCm39)	V241A	probably damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Mtf1	T	C	4: 124,732,372 (GRCm39)	F477L	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Slc7a13	T	A	4: 19,841,404 (GRCm39)	V417D	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518b	A	G	5: 38,831,123 (GRCm39)	I294T	possibly damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	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
IGL02096:Prss27	APN	17	24,263,951 (GRCm39)	missense	possibly damaging	0.94
IGL02318:Prss27	APN	17	24,264,571 (GRCm39)	missense	probably benign	0.01
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