Mutagenetix > Incidental Mutation

Incidental Mutation 'R0413:Pgpep1'

36802

Institutional Source

Beutler Lab

Gene Symbol

Pgpep1

Ensembl Gene

ENSMUSG00000056204

Gene Name

pyroglutamyl-peptidase I

Synonyms

PGP-I, Pcp, 2810003H13Rik

MMRRC Submission

038615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71099085-71113038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71110100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 22 (N22S)

Ref Sequence

ENSEMBL: ENSMUSP00000148141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070173] [ENSMUST00000209768] [ENSMUST00000210193] [ENSMUST00000210307] [ENSMUST00000211715]

AlphaFold

Q9ESW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070173
AA Change: N22S

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070778
Gene: ENSMUSG00000056204
AA Change: N22S

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C15	6	185	1.2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209768
AA Change: N22S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210193

Predicted Effect

probably benign
Transcript: ENSMUST00000210307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210459

Predicted Effect

probably benign
Transcript: ENSMUST00000210786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211526

Predicted Effect

probably damaging
Transcript: ENSMUST00000211715
AA Change: N22S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.7294

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (99/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,158,355 (GRCm39)		probably benign	Het
Adh1	C	T	3: 137,986,193 (GRCm39)	T60I	probably benign	Het
Agtpbp1	T	A	13: 59,661,966 (GRCm39)	I282F	probably damaging	Het
Arih2	G	T	9: 108,493,916 (GRCm39)	Q166K	probably damaging	Het
Cacna1s	A	G	1: 136,025,947 (GRCm39)	T1031A	probably benign	Het
Ccdc102a	C	A	8: 95,629,914 (GRCm39)	E542D	probably benign	Het
Cdk1	T	C	10: 69,180,929 (GRCm39)	I94V	probably benign	Het
Cep290	C	T	10: 100,359,176 (GRCm39)	Q969*	probably null	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Col12a1	T	C	9: 79,606,642 (GRCm39)	T594A	probably damaging	Het
Cpox	A	G	16: 58,491,232 (GRCm39)	T148A	possibly damaging	Het
Csf3r	A	G	4: 125,933,460 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,760,530 (GRCm39)	C202S	probably damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dnah9	T	A	11: 65,998,961 (GRCm39)	Y1029F	probably damaging	Het
Dok5	T	C	2: 170,671,880 (GRCm39)		probably benign	Het
Dusp11	A	T	6: 85,929,352 (GRCm39)		probably benign	Het
Edar	T	C	10: 58,465,262 (GRCm39)	N34D	probably benign	Het
Efcab7	C	T	4: 99,766,943 (GRCm39)	T56I	probably damaging	Het
Entpd1	G	A	19: 40,699,729 (GRCm39)	V47I	probably benign	Het
Ephx4	A	G	5: 107,551,601 (GRCm39)	N62S	probably benign	Het
Etaa1	A	T	11: 17,896,350 (GRCm39)	L589*	probably null	Het
Fam135b	T	A	15: 71,335,670 (GRCm39)	N508I	probably benign	Het
Fam193a	T	C	5: 34,623,552 (GRCm39)	V27A	possibly damaging	Het
Fmnl1	A	G	11: 103,084,889 (GRCm39)		probably benign	Het
Fstl1	A	C	16: 37,641,516 (GRCm39)		probably null	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Gemin4	T	C	11: 76,102,148 (GRCm39)	Y871C	probably benign	Het
Get1	T	G	16: 95,954,217 (GRCm39)	S105R	probably benign	Het
Gm7247	T	C	14: 51,760,929 (GRCm39)	V166A	probably benign	Het
Gpcpd1	A	T	2: 132,406,543 (GRCm39)		probably benign	Het
Gpnmb	A	G	6: 49,019,737 (GRCm39)	D36G	probably benign	Het
Ido2	C	T	8: 25,048,159 (GRCm39)		probably null	Het
Igfn1	G	A	1: 135,895,334 (GRCm39)	T1744I	probably benign	Het
Inf2	T	G	12: 112,568,110 (GRCm39)	F221V	probably damaging	Het
Itga10	T	A	3: 96,556,375 (GRCm39)	I170N	probably damaging	Het
Lrp6	A	T	6: 134,484,587 (GRCm39)	D345E	probably damaging	Het
Macf1	A	T	4: 123,366,062 (GRCm39)	S2900T	probably benign	Het
Med13	C	A	11: 86,190,033 (GRCm39)		probably benign	Het
Morc3	T	C	16: 93,667,362 (GRCm39)	V507A	probably damaging	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Myl6	C	T	10: 128,328,091 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,742,314 (GRCm39)	V942A	probably benign	Het
Myorg	G	T	4: 41,498,585 (GRCm39)	H348Q	probably benign	Het
Ncdn	G	T	4: 126,644,327 (GRCm39)	T165K	possibly damaging	Het
Ncf1	T	C	5: 134,251,656 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,180,751 (GRCm39)		probably benign	Het
Nid1	T	A	13: 13,656,681 (GRCm39)	I604N	probably benign	Het
Nsrp1	T	C	11: 76,936,997 (GRCm39)	R400G	probably benign	Het
Nup43	T	G	10: 7,546,791 (GRCm39)	I137S	probably benign	Het
Nynrin	A	G	14: 56,109,648 (GRCm39)	N1585S	possibly damaging	Het
Obscn	T	A	11: 58,893,823 (GRCm39)	Y6748F	probably benign	Het
Omg	A	G	11: 79,393,661 (GRCm39)	S66P	possibly damaging	Het
Or13a27	A	T	7: 139,925,108 (GRCm39)	S265T	possibly damaging	Het
Or2y1d	T	C	11: 49,322,212 (GRCm39)	V303A	possibly damaging	Het
Or4c15	A	G	2: 88,759,906 (GRCm39)	V251A	probably benign	Het
Or51b6b	A	T	7: 103,309,957 (GRCm39)	F167I	possibly damaging	Het
Or52z1	A	G	7: 103,437,362 (GRCm39)	Y41H	probably damaging	Het
Or5ak22	T	C	2: 85,230,019 (GRCm39)	N286S	probably damaging	Het
Or8g27	A	G	9: 39,129,566 (GRCm39)	I304M	probably benign	Het
Or8k24	G	A	2: 86,216,058 (GRCm39)	R235C	probably benign	Het
Ormdl1	C	T	1: 53,347,978 (GRCm39)		probably benign	Het
Ovch2	T	A	7: 107,381,243 (GRCm39)	I552L	probably benign	Het
Pcare	T	G	17: 72,059,212 (GRCm39)	D155A	probably benign	Het
Pcsk9	G	T	4: 106,311,538 (GRCm39)	T231N	probably damaging	Het
Plb1	T	C	5: 32,512,706 (GRCm39)	F1355L	probably damaging	Het
Plcg1	G	T	2: 160,603,349 (GRCm39)	L1173F	probably damaging	Het
Plch2	A	T	4: 155,091,373 (GRCm39)		probably null	Het
Ppp1r3g	T	A	13: 36,153,331 (GRCm39)	F250L	probably damaging	Het
Prkcg	A	G	7: 3,368,095 (GRCm39)	I381V	probably benign	Het
Pum2	C	T	12: 8,763,464 (GRCm39)	A207V	probably benign	Het
Rabac1	T	C	7: 24,669,607 (GRCm39)	E166G	probably damaging	Het
Rad21l	G	A	2: 151,493,851 (GRCm39)	S450L	probably benign	Het
Rangap1	ACACTCA	ACA	15: 81,600,876 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,348,824 (GRCm39)	C40F	probably damaging	Het
Rfx2	A	G	17: 57,091,418 (GRCm39)		probably benign	Het
Rrp15	G	A	1: 186,481,346 (GRCm39)		probably benign	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Sec61a2	A	T	2: 5,881,165 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,669,590 (GRCm39)	K705E	probably damaging	Het
Setx	A	G	2: 29,029,290 (GRCm39)	Y186C	probably damaging	Het
Slc22a23	T	C	13: 34,367,115 (GRCm39)	E631G	probably damaging	Het
Slc5a5	T	C	8: 71,344,319 (GRCm39)	T134A	possibly damaging	Het
Stx7	T	C	10: 24,057,492 (GRCm39)	S173P	probably damaging	Het
Sybu	T	C	15: 44,536,668 (GRCm39)	T353A	probably damaging	Het
Syde2	T	A	3: 145,712,887 (GRCm39)	N1008K	probably damaging	Het
Tiam1	T	C	16: 89,606,253 (GRCm39)		probably benign	Het
Timm10b	G	A	7: 105,327,537 (GRCm39)	E61K	probably benign	Het
Tm2d1	A	G	4: 98,253,810 (GRCm39)	I121T	probably damaging	Het
Trim75	T	C	8: 65,435,892 (GRCm39)	E186G	probably benign	Het
Tti1	T	C	2: 157,837,396 (GRCm39)	K895E	probably benign	Het
Vmn1r43	A	G	6: 89,846,830 (GRCm39)	S219P	probably damaging	Het
Vmn2r73	A	T	7: 85,521,087 (GRCm39)	S294T	possibly damaging	Het
Vmn2r94	A	T	17: 18,464,080 (GRCm39)	F737I	probably damaging	Het
Vsx2	A	T	12: 84,616,777 (GRCm39)	T21S	probably benign	Het
Zfp462	G	T	4: 55,010,534 (GRCm39)	R833S	probably damaging	Het
Zfpl1	G	A	19: 6,132,482 (GRCm39)	P143L	probably damaging	Het

Other mutations in Pgpep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02565:Pgpep1	APN	8	71,105,119 (GRCm39)	missense	probably damaging	1.00
R0365:Pgpep1	UTSW	8	71,105,174 (GRCm39)	splice site	probably null
R0603:Pgpep1	UTSW	8	71,103,283 (GRCm39)	missense	probably benign	0.03
R5547:Pgpep1	UTSW	8	71,105,069 (GRCm39)	missense	probably benign	0.00
R5773:Pgpep1	UTSW	8	71,105,101 (GRCm39)	missense	probably damaging	1.00
R5775:Pgpep1	UTSW	8	71,105,101 (GRCm39)	missense	probably damaging	1.00
R6056:Pgpep1	UTSW	8	71,105,101 (GRCm39)	missense	probably damaging	1.00
R6057:Pgpep1	UTSW	8	71,105,101 (GRCm39)	missense	probably damaging	1.00
R6573:Pgpep1	UTSW	8	71,103,265 (GRCm39)	missense	probably benign	0.00
R7544:Pgpep1	UTSW	8	71,103,168 (GRCm39)	missense	unknown
R9301:Pgpep1	UTSW	8	71,103,418 (GRCm39)	missense	probably damaging	1.00
R9502:Pgpep1	UTSW	8	71,103,899 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAGTGAAGAGACTGAGTCCCTGC -3'
(R):5'- ATTGGGACAAGGAAGCCTGTGC -3'

Sequencing Primer
(F):5'- gcctctgcctcccaagtg -3'
(R):5'- AAGGAAGCCTGTGCCTGTC -3'

Posted On

2013-05-09