Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Pepd'

587209

Institutional Source

Beutler Lab

Gene Symbol

Pepd

Ensembl Gene

ENSMUSG00000063931

Gene Name

peptidase D

Synonyms

dal, peptidase D, Pep4, Pep-4

MMRRC Submission

045712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34611832-34744131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34668965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 195 (L195S)

Ref Sequence

ENSEMBL: ENSMUSP00000075683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075068]

AlphaFold

Q11136

Predicted Effect

probably damaging
Transcript: ENSMUST00000075068
AA Change: L195S

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

SMART Domains

Protein: ENSMUSP00000075683
Gene: ENSMUSG00000063931
AA Change: L195S

Domain	Start	End	E-Value	Type
AMP_N	18	155	2.71e-39	SMART
Pfam:Peptidase_M24	193	459	5.4e-61	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133634
Gene: ENSMUSG00000063931
AA Change: L47S

Domain	Start	End	E-Value	Type
Blast:AMP_N	2	35	3e-15	BLAST
PDB:2OKN\|B	2	76	1e-43	PDB
SCOP:d1b6a_2	7	77	2e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants are smaller than normal siblings and, except on the flanks, an agouti coat appears nonagouti. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
Atrn	T	A	2: 130,822,034 (GRCm39)	I909N	probably damaging	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	probably benign	Het

Other mutations in Pepd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Pepd	APN	7	34,623,865 (GRCm39)	missense	probably benign
IGL02102:Pepd	APN	7	34,645,028 (GRCm39)	missense	probably damaging	1.00
R1256:Pepd	UTSW	7	34,620,917 (GRCm39)	missense	possibly damaging	0.95
R1690:Pepd	UTSW	7	34,730,782 (GRCm39)	missense	probably damaging	1.00
R1734:Pepd	UTSW	7	34,730,851 (GRCm39)	missense	probably benign	0.07
R1911:Pepd	UTSW	7	34,634,174 (GRCm39)	splice site	probably benign
R1918:Pepd	UTSW	7	34,671,101 (GRCm39)	missense	probably benign	0.00
R2144:Pepd	UTSW	7	34,620,843 (GRCm39)	missense	probably benign	0.09
R4814:Pepd	UTSW	7	34,645,022 (GRCm39)	missense	probably damaging	0.96
R4924:Pepd	UTSW	7	34,720,409 (GRCm39)	missense	probably benign	0.24
R5490:Pepd	UTSW	7	34,642,115 (GRCm39)	splice site	probably null
R5669:Pepd	UTSW	7	34,740,099 (GRCm39)	missense	probably benign	0.38
R6240:Pepd	UTSW	7	34,721,176 (GRCm39)	missense	probably benign	0.00
R6300:Pepd	UTSW	7	34,668,968 (GRCm39)	missense	probably damaging	1.00
R6479:Pepd	UTSW	7	34,740,147 (GRCm39)	missense	probably benign	0.00
R6995:Pepd	UTSW	7	34,721,144 (GRCm39)	missense	probably damaging	1.00
R7303:Pepd	UTSW	7	34,721,197 (GRCm39)	critical splice donor site	probably null
R8008:Pepd	UTSW	7	34,721,126 (GRCm39)	missense	probably benign	0.22
R8672:Pepd	UTSW	7	34,642,107 (GRCm39)	missense	probably damaging	0.97
R8815:Pepd	UTSW	7	34,671,116 (GRCm39)	missense	probably damaging	1.00
R9037:Pepd	UTSW	7	34,720,398 (GRCm39)	missense	probably benign
R9489:Pepd	UTSW	7	34,743,218 (GRCm39)	missense	probably benign	0.10
R9605:Pepd	UTSW	7	34,743,218 (GRCm39)	missense	probably benign	0.10
R9646:Pepd	UTSW	7	34,620,882 (GRCm39)	missense	possibly damaging	0.47
X0021:Pepd	UTSW	7	34,653,988 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGATTGCACGTTGCCATG -3'
(R):5'- TTCCTGATCCCTGCCCAAAG -3'

Sequencing Primer
(F):5'- CACGTTGCCATGGGTGTTG -3'
(R):5'- ATGTTCCTGCCTCCAAGGAG -3'

Posted On

2019-10-24