Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02715:Prss27'

304721

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 #

IGL02715

Quality Score

Status

Chromosome

Chromosomal Location

24257217-24264923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24263953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 213 (D213V)

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: D213V

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

SMART Domains

Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762
AA Change: D213V

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,714 (GRCm39)	I57V	probably damaging	Het
Abce1	T	A	8: 80,416,990 (GRCm39)	E340D	probably damaging	Het
Agbl2	C	T	2: 90,636,212 (GRCm39)	R583W	probably damaging	Het
Aig1	A	G	10: 13,744,360 (GRCm39)		probably null	Het
Atpsckmt	A	G	15: 31,606,149 (GRCm39)	T36A	probably benign	Het
Brd3	C	A	2: 27,344,495 (GRCm39)	A412S	possibly damaging	Het
C3	A	G	17: 57,511,158 (GRCm39)		probably benign	Het
Ccdc127	A	G	13: 74,504,893 (GRCm39)	E147G	probably benign	Het
Chrna4	A	G	2: 180,671,374 (GRCm39)		probably benign	Het
Cnn2	T	C	10: 79,829,323 (GRCm39)	L151P	probably damaging	Het
Col11a1	G	T	3: 113,923,058 (GRCm39)	M7I	probably benign	Het
Cstdc4	T	C	16: 36,008,315 (GRCm39)	I67T	possibly damaging	Het
Fastkd1	A	G	2: 69,542,469 (GRCm39)		probably null	Het
Fcho2	A	G	13: 98,932,843 (GRCm39)	M53T	probably damaging	Het
Fmnl2	T	C	2: 52,962,222 (GRCm39)	Y236H	possibly damaging	Het
G6bos	A	G	17: 35,284,537 (GRCm39)		probably null	Het
Gramd1a	C	T	7: 30,835,279 (GRCm39)	G436D	probably damaging	Het
Hivep2	A	G	10: 14,007,131 (GRCm39)	Y1243C	probably benign	Het
Lrit2	A	G	14: 36,794,505 (GRCm39)	D523G	probably benign	Het
Lrrc2	A	C	9: 110,799,182 (GRCm39)	D177A	probably damaging	Het
Lyst	T	A	13: 13,848,905 (GRCm39)		probably null	Het
Mrgpra6	A	T	7: 46,838,396 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,184,365 (GRCm39)		probably benign	Het
Myzap	C	A	9: 71,422,397 (GRCm39)	E392*	probably null	Het
Ndst3	G	A	3: 123,340,410 (GRCm39)		probably benign	Het
Nlrc5	C	A	8: 95,201,296 (GRCm39)	P130H	probably damaging	Het
Obscn	T	C	11: 58,971,137 (GRCm39)	T2526A	probably benign	Het
Or1e26	T	A	11: 73,479,947 (GRCm39)	I206F	probably benign	Het
Pcnt	C	A	10: 76,204,556 (GRCm39)		probably benign	Het
Pfpl	T	A	19: 12,407,145 (GRCm39)	C465*	probably null	Het
Pkd1l3	T	A	8: 110,353,458 (GRCm39)	C680S	probably damaging	Het
Ppp1r10	G	T	17: 36,241,604 (GRCm39)	G793V	unknown	Het
Sh2d5	T	C	4: 137,984,018 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,549 (GRCm39)	D193G	probably benign	Het
Sptan1	T	C	2: 29,868,588 (GRCm39)	V66A	probably benign	Het
Synpr	T	C	14: 13,608,618 (GRCm38)	S133P	probably damaging	Het
Tagln3	T	C	16: 45,544,588 (GRCm39)	N28D	probably benign	Het
Tfrc	A	G	16: 32,443,189 (GRCm39)	T494A	probably benign	Het
Tmem38a	T	C	8: 73,333,512 (GRCm39)	I77T	possibly damaging	Het
Tmem42	C	A	9: 122,851,295 (GRCm39)	T86N	probably damaging	Het
Ttc8	T	A	12: 98,910,179 (GRCm39)		probably benign	Het
Tub	G	A	7: 108,628,517 (GRCm39)	V342I	probably benign	Het
Vmn2r103	A	T	17: 20,014,218 (GRCm39)	I337F	probably damaging	Het
Xkr7	A	G	2: 152,896,277 (GRCm39)	E377G	probably damaging	Het
Zfp292	C	T	4: 34,819,542 (GRCm39)	G260D	probably damaging	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
IGL02491:Prss27	APN	17	24,263,229 (GRCm39)	splice site	probably benign
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