Mutagenetix > Incidental Mutation

Incidental Mutation 'R6240:Pepd'

505170

Institutional Source

Beutler Lab

Gene Symbol

Pepd

Ensembl Gene

ENSMUSG00000063931

Gene Name

peptidase D

Synonyms

dal, peptidase D, Pep4, Pep-4

MMRRC Submission

044364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6240 (G1)

Quality Score

119.008

Status

Validated

Chromosome

Chromosomal Location

34611832-34744131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34721176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 267 (I267V)

Ref Sequence

ENSEMBL: ENSMUSP00000075683 (fasta)

Gene Model

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

AlphaFold

Q11136

Predicted Effect

probably benign
Transcript: ENSMUST00000075068
AA Change: I267V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075683
Gene: ENSMUSG00000063931
AA Change: I267V

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

noncoding transcript
Transcript: ENSMUST00000161128

Predicted Effect

probably benign
Transcript: ENSMUST00000161900

SMART Domains

Protein: ENSMUSP00000133634
Gene: ENSMUSG00000063931

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

Meta Mutation Damage Score

0.2364

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (62/63)

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
4930578I06Rik	C	A	14: 64,223,701 (GRCm39)	R25L	probably damaging	Het
Adamts1	G	A	16: 85,599,045 (GRCm39)	S185L	probably benign	Het
Adamts12	A	T	15: 11,286,044 (GRCm39)	D751V	probably benign	Het
Adgrg3	A	G	8: 95,766,544 (GRCm39)	D405G	probably benign	Het
Ahi1	A	G	10: 20,852,980 (GRCm39)	D516G	probably damaging	Het
Ahnak	A	T	19: 8,990,947 (GRCm39)	D4077V	probably damaging	Het
Arhgef18	G	A	8: 3,489,658 (GRCm39)	R330Q	probably damaging	Het
Arid1a	A	G	4: 133,407,997 (GRCm39)	V2170A	unknown	Het
Asxl3	C	T	18: 22,598,565 (GRCm39)	L227F	probably damaging	Het
B3glct	A	G	5: 149,650,253 (GRCm39)	I119V	probably benign	Het
Brd10	A	T	19: 29,694,640 (GRCm39)	S1618T	probably benign	Het
Cad	T	A	5: 31,230,322 (GRCm39)	M1512K	probably benign	Het
Cdc25a	A	G	9: 109,713,226 (GRCm39)	T172A	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Clmp	A	G	9: 40,693,707 (GRCm39)	N308S	probably damaging	Het
Dlg5	A	T	14: 24,199,596 (GRCm39)		probably null	Het
Dscam	G	A	16: 96,420,702 (GRCm39)	T1728M	probably damaging	Het
E4f1	A	G	17: 24,663,556 (GRCm39)	S524P	possibly damaging	Het
Epha5	G	C	5: 84,265,438 (GRCm39)	A452G	probably benign	Het
Fzd3	T	C	14: 65,447,304 (GRCm39)	T542A	probably damaging	Het
Glyctk	A	T	9: 106,033,461 (GRCm39)		probably null	Het
Gm10382	G	A	5: 125,466,660 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,904,281 (GRCm39)	M127L	probably benign	Het
Hoxc10	T	A	15: 102,879,265 (GRCm39)	W262R	probably damaging	Het
Icam5	T	A	9: 20,944,454 (GRCm39)	W52R	possibly damaging	Het
Jazf1	A	T	6: 52,754,537 (GRCm39)	C180S	probably damaging	Het
Kcnk2	A	G	1: 188,975,179 (GRCm39)	W286R	probably damaging	Het
Kcnmb2	C	T	3: 32,236,045 (GRCm39)	S98F	probably damaging	Het
Mob3a	C	G	10: 80,525,698 (GRCm39)	E204D	possibly damaging	Het
Morc3	C	G	16: 93,659,572 (GRCm39)	H459D	probably damaging	Het
Mroh2b	A	T	15: 4,964,126 (GRCm39)	N876I	probably benign	Het
Myo16	A	T	8: 10,420,930 (GRCm39)	T257S	probably damaging	Het
Nat1	A	T	8: 67,944,354 (GRCm39)	R243S	possibly damaging	Het
Nudt9	T	C	5: 104,194,955 (GRCm39)	V17A	probably benign	Het
Or13p8	A	G	4: 118,583,668 (GRCm39)	S75G	probably benign	Het
Or4c111	A	G	2: 88,843,970 (GRCm39)	I146T	probably benign	Het
Or4c11c	A	G	2: 88,661,707 (GRCm39)	D82G	probably benign	Het
Or4m1	A	G	14: 50,558,043 (GRCm39)	V83A	probably benign	Het
Or6c70	C	A	10: 129,710,546 (GRCm39)	V27L	probably benign	Het
Pcdh7	T	C	5: 57,878,704 (GRCm39)	L753P	probably damaging	Het
Pcf11	T	A	7: 92,295,710 (GRCm39)	E1446D	probably damaging	Het
Plk2	T	A	13: 110,536,008 (GRCm39)	Y571N	probably damaging	Het
Plk2	T	A	13: 110,536,568 (GRCm39)	V620E	probably damaging	Het
Prag1	T	C	8: 36,570,506 (GRCm39)	L363P	probably benign	Het
Psmd3	A	G	11: 98,584,479 (GRCm39)	T387A	probably damaging	Het
Ptgs1	G	A	2: 36,127,297 (GRCm39)	C61Y	probably damaging	Het
Rab18	T	C	18: 6,784,635 (GRCm39)	Y109H	probably benign	Het
Robo2	G	A	16: 73,779,027 (GRCm39)	P358L	probably damaging	Het
Smarcc2	C	T	10: 128,323,893 (GRCm39)		probably benign	Het
Spata31e4	G	A	13: 50,855,453 (GRCm39)	D364N	probably damaging	Het
Srgap1	A	G	10: 121,883,061 (GRCm39)	I13T	probably benign	Het
Tcf12	T	A	9: 71,851,298 (GRCm39)	K110*	probably null	Het
Tdrd1	T	C	19: 56,829,767 (GRCm39)	S214P	probably benign	Het
Tdrd3	T	A	14: 87,743,322 (GRCm39)	N417K	probably damaging	Het
Tmem255b	A	G	8: 13,504,216 (GRCm39)	Y136C	probably damaging	Het
Tmem63c	A	T	12: 87,123,179 (GRCm39)	I448F	possibly damaging	Het
Tnpo1	T	C	13: 99,000,337 (GRCm39)	I335M	probably damaging	Het
Vmn1r1	T	C	1: 181,985,186 (GRCm39)	T160A	probably damaging	Het
Vmn1r203	A	G	13: 22,708,899 (GRCm39)	N227D	possibly damaging	Het
Vmn2r6	T	A	3: 64,464,226 (GRCm39)	S203C	probably damaging	Het
Zfp628	A	G	7: 4,922,848 (GRCm39)	T357A	possibly damaging	Het
Zfp872	A	G	9: 22,111,180 (GRCm39)	K220E	probably damaging	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
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
R7587:Pepd	UTSW	7	34,668,965 (GRCm39)	missense	probably damaging	1.00
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'- GAAGGCAGCTATTAGACCCAAG -3'
(R):5'- TTAGGCCTGGAGAAGTTGGC -3'

Sequencing Primer
(F):5'- GCTATTAGACCCAAGGAGCTGCTC -3'
(R):5'- GCATTCAGGCTGACAGCTATAGC -3'

Posted On

2018-02-28