Mutagenetix > Incidental Mutation

Incidental Mutation 'R5078:Prss27'

386989

Institutional Source

Beutler Lab

Gene Symbol

Prss27

Ensembl Gene

ENSMUSG00000050762

Gene Name

serine protease 27

Synonyms

Pancreasin, Mpn, marapsin, CAPH2

MMRRC Submission

042667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24257217-24264923 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 24263414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 142 (Y142*)

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 null
Transcript: ENSMUST00000059482
AA Change: Y142*

SMART Domains

Protein: ENSMUSP00000056483
Gene: ENSMUSG00000050762
AA Change: Y142*

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

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (53/53)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,141,771 (GRCm39)	S345G	probably benign	Het
Adgrf2	A	T	17: 43,021,877 (GRCm39)	F316I	probably damaging	Het
Ank2	A	G	3: 126,736,002 (GRCm39)		probably benign	Het
Auts2	T	C	5: 132,287,786 (GRCm39)	K66E	possibly damaging	Het
Bicra	T	C	7: 15,709,382 (GRCm39)	D1144G	probably damaging	Het
Cabin1	A	G	10: 75,557,312 (GRCm39)	S1109P	probably damaging	Het
Camkv	T	C	9: 107,822,572 (GRCm39)	V29A	probably damaging	Het
Ccdc178	A	T	18: 22,200,685 (GRCm39)		probably null	Het
Ccser1	G	A	6: 61,288,350 (GRCm39)	R171H	probably damaging	Het
Cdk19	A	G	10: 40,312,150 (GRCm39)	Y133C	probably damaging	Het
Cerkl	T	A	2: 79,223,352 (GRCm39)	D123V	probably benign	Het
Chd1	T	C	17: 15,946,616 (GRCm39)	S121P	possibly damaging	Het
Col4a2	T	C	8: 11,493,936 (GRCm39)	V1459A	probably benign	Het
Dlg1	T	A	16: 31,675,287 (GRCm39)	Y704*	probably null	Het
Dsg2	T	C	18: 20,729,140 (GRCm39)		probably null	Het
Egln3	T	C	12: 54,228,453 (GRCm39)	R218G	probably damaging	Het
Gm11568	T	C	11: 99,749,181 (GRCm39)	C129R	unknown	Het
Gm13991	T	C	2: 116,358,355 (GRCm39)		noncoding transcript	Het
Gmnc	C	A	16: 26,784,332 (GRCm39)	V58L	probably benign	Het
Gpx5	A	G	13: 21,472,881 (GRCm39)	F151S	probably damaging	Het
Helz	G	A	11: 107,546,922 (GRCm39)	G1079R	probably damaging	Het
Ice1	T	C	13: 70,752,969 (GRCm39)	E1039G	probably benign	Het
Kif18a	T	C	2: 109,125,487 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,143,530 (GRCm39)	T500A	possibly damaging	Het
Lrfn5	A	C	12: 61,890,660 (GRCm39)	K650Q	possibly damaging	Het
Lrp2	T	C	2: 69,331,874 (GRCm39)	D1627G	possibly damaging	Het
Nxn	T	C	11: 76,152,433 (GRCm39)	K354E	probably damaging	Het
Or5d20-ps1	T	A	2: 87,931,879 (GRCm39)	I151L	probably benign	Het
Pcnx2	T	C	8: 126,478,895 (GRCm39)	T2118A	probably benign	Het
Phldb2	A	G	16: 45,598,105 (GRCm39)	F861L	possibly damaging	Het
Piezo2	A	G	18: 63,157,607 (GRCm39)	Y2368H	probably damaging	Het
Pnp	T	A	14: 51,188,963 (GRCm39)	L252*	probably null	Het
Prom2	T	C	2: 127,373,757 (GRCm39)	Q641R	probably benign	Het
Prpf31	T	C	7: 3,637,702 (GRCm39)	S180P	possibly damaging	Het
Ripk1	T	G	13: 34,201,082 (GRCm39)	M265R	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ropn1	T	A	16: 34,487,161 (GRCm39)	D32E	probably damaging	Het
Rps23	T	C	13: 91,071,822 (GRCm39)	F41L	probably benign	Het
Sec24d	A	G	3: 123,084,201 (GRCm39)	I127V	probably benign	Het
Selenot	C	T	3: 58,492,692 (GRCm39)	R60W	probably damaging	Het
Tll1	T	C	8: 64,546,921 (GRCm39)	K342E	probably damaging	Het
Tlx1	A	T	19: 45,144,460 (GRCm39)	N61Y	probably damaging	Het
Vmn2r117	T	A	17: 23,679,122 (GRCm39)	I701F	probably damaging	Het
Zmynd12	A	G	4: 119,302,047 (GRCm39)	K229E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATATACCAGGTCCTGCTG -3'
(R):5'- CACAGCAGTTCCGACTACAG -3'

Sequencing Primer
(F):5'- TGGGGGCACTGAAGCTG -3'
(R):5'- CCCACCCATGTGAATAGAGATGG -3'

Posted On

2016-06-06