Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Pepd'

199568

Institutional Source

Beutler Lab

Gene Symbol

Pepd

Ensembl Gene

ENSMUSG00000063931

Gene Name

peptidase D

Synonyms

dal, peptidase D, Pep4, Pep-4

MMRRC Submission

039766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34611832-34744131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34730851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 301 (D301V)

Ref Sequence

ENSEMBL: ENSMUSP00000075683 (fasta)

Gene Model

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

AlphaFold

Q11136

Predicted Effect

probably benign
Transcript: ENSMUST00000075068
AA Change: D301V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075683
Gene: ENSMUSG00000063931
AA Change: D301V

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

Meta Mutation Damage Score

0.5206

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,596 (GRCm39)	C379S	probably benign	Het
Abca13	T	C	11: 9,535,460 (GRCm39)	C4695R	probably benign	Het
Actr10	T	A	12: 71,008,770 (GRCm39)	V401E	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,380,557 (GRCm39)	I59K	probably damaging	Het
Alms1	T	A	6: 85,618,532 (GRCm39)		probably null	Het
Anln	A	T	9: 22,262,251 (GRCm39)	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,291,854 (GRCm39)	T733A	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chac1	A	T	2: 119,183,939 (GRCm39)	L180F	probably damaging	Het
Cherp	A	T	8: 73,223,932 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,738 (GRCm39)	S442P	probably benign	Het
Clstn3	G	A	6: 124,413,773 (GRCm39)		probably benign	Het
Crb2	T	A	2: 37,683,668 (GRCm39)	C1057S	probably damaging	Het
Dact2	T	C	17: 14,416,901 (GRCm39)	D433G	probably benign	Het
Dnah6	G	A	6: 73,021,744 (GRCm39)	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,307,809 (GRCm39)	T210A	probably benign	Het
Fat2	A	G	11: 55,172,197 (GRCm39)	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,735 (GRCm39)	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,281,637 (GRCm39)		noncoding transcript	Het
Grm3	C	T	5: 9,639,742 (GRCm39)	R101K	probably benign	Het
Hspa12b	A	G	2: 130,980,456 (GRCm39)	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,167,241 (GRCm39)	T437A	probably benign	Het
Itprid2	G	A	2: 79,488,166 (GRCm39)	V750M	probably damaging	Het
Jcad	T	C	18: 4,674,526 (GRCm39)	F763L	probably damaging	Het
Map3k10	T	C	7: 27,357,540 (GRCm39)	D746G	probably damaging	Het
Mettl9	T	A	7: 120,647,064 (GRCm39)	Y57N	probably damaging	Het
Nav2	G	A	7: 49,225,468 (GRCm39)	E1803K	probably damaging	Het
Nol11	G	A	11: 107,066,449 (GRCm39)	S447L	possibly damaging	Het
Or14a256	C	T	7: 86,265,425 (GRCm39)	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,921,373 (GRCm39)		probably null	Het
Pde6a	A	G	18: 61,419,036 (GRCm39)	N804S	probably damaging	Het
Piwil2	A	T	14: 70,663,954 (GRCm39)		probably null	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,369,683 (GRCm39)	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,119,630 (GRCm39)		probably null	Het
Slc7a11	G	A	3: 50,326,795 (GRCm39)	Q489*	probably null	Het
Sned1	G	A	1: 93,187,490 (GRCm39)	D256N	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spmip9	T	A	6: 70,890,645 (GRCm39)	Q49L	probably benign	Het
Syce2	G	A	8: 85,613,776 (GRCm39)	E168K	probably benign	Het
Tmem260	G	T	14: 48,746,550 (GRCm39)	V609L	probably benign	Het
Trim35	A	G	14: 66,546,778 (GRCm39)	D515G	probably damaging	Het
Tspan5	T	C	3: 138,603,901 (GRCm39)	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,586,319 (GRCm39)	I466V	probably benign	Het
Ttn	T	C	2: 76,576,157 (GRCm39)	D24912G	probably damaging	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,409,285 (GRCm39)	R204G	probably damaging	Het
Vps18	A	T	2: 119,124,423 (GRCm39)	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,667,289 (GRCm39)	E198G	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
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
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'- CCAAGGCCAGGCTTCTTCCTTAG -3'
(R):5'- CCTGCGGTGTCTGTCAGTCAAG -3'

Sequencing Primer
(F):5'- tgagattgtgggggaggg -3'
(R):5'- CAGTCAAGATGTATGTTCAGTCCC -3'

Posted On

2014-05-23