Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Pepd'

661211

Institutional Source

Beutler Lab

Gene Symbol

Pepd

Ensembl Gene

ENSMUSG00000063931

Gene Name

peptidase D

Synonyms

dal, peptidase D, Pep4, Pep-4

MMRRC Submission

068527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34611832-34744131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34642107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 146 (T146N)

Ref Sequence

ENSEMBL: ENSMUSP00000075683 (fasta)

Gene Model

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

AlphaFold

Q11136

Predicted Effect

probably damaging
Transcript: ENSMUST00000075068
AA Change: T146N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075683
Gene: ENSMUSG00000063931
AA Change: T146N

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Aadat	A	T	8: 60,959,179 (GRCm39)		probably benign	Het
Amigo3	A	G	9: 107,931,375 (GRCm39)	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,323,146 (GRCm39)	M214K	probably damaging	Het
Atp11b	A	T	3: 35,874,066 (GRCm39)	D685V	probably benign	Het
Aunip	T	A	4: 134,250,460 (GRCm39)	M135K	probably benign	Het
Brd10	T	C	19: 29,731,564 (GRCm39)	T483A	probably benign	Het
Card9	T	C	2: 26,247,950 (GRCm39)	T134A	probably benign	Het
Cd46	G	A	1: 194,764,949 (GRCm39)	T216I	probably benign	Het
Chit1	T	C	1: 134,079,005 (GRCm39)	V360A	unknown	Het
Crcp	A	G	5: 130,071,077 (GRCm39)	R59G	probably benign	Het
Csmd1	T	A	8: 15,976,598 (GRCm39)	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,743,986 (GRCm39)	M449L	probably benign	Het
Dpp7	T	C	2: 25,246,133 (GRCm39)	D40G	probably benign	Het
Eif4g3	T	A	4: 137,853,823 (GRCm39)	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,278,524 (GRCm39)	I454V	probably benign	Het
Gbp11	T	A	5: 105,491,675 (GRCm39)	I41F	probably damaging	Het
Gkap1	G	A	13: 58,391,662 (GRCm39)	T231I	probably damaging	Het
Heatr5b	A	G	17: 79,069,632 (GRCm39)	L1705P	probably damaging	Het
Herc3	T	A	6: 58,850,786 (GRCm39)	F467I	probably damaging	Het
Ifih1	T	C	2: 62,435,993 (GRCm39)	E699G	possibly damaging	Het
Ints5	T	A	19: 8,873,370 (GRCm39)	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,276,016 (GRCm39)	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,551,230 (GRCm39)	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,518,890 (GRCm39)	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793 (GRCm39)	D5384G	probably damaging	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,784,063 (GRCm39)	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,512,988 (GRCm39)	S8P	probably benign	Het
Nisch	A	G	14: 30,895,093 (GRCm39)	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,579 (GRCm39)	N404D	probably damaging	Het
Nwd1	C	G	8: 73,394,007 (GRCm39)	H423Q	probably damaging	Het
Or5a1	C	T	19: 12,097,921 (GRCm39)	V52M	probably benign	Het
Or6c66b	T	A	10: 129,376,596 (GRCm39)	N63K	probably damaging	Het
Or8j3c	T	A	2: 86,253,976 (GRCm39)	M15L	probably benign	Het
Pcdh9	T	C	14: 94,124,529 (GRCm39)	N547S	probably benign	Het
Pdha2	C	A	3: 140,917,124 (GRCm39)	R128L	probably damaging	Het
Pebp1	A	G	5: 117,421,336 (GRCm39)	Y181H	probably benign	Het
Peg3	T	G	7: 6,711,523 (GRCm39)	D1233A	possibly damaging	Het
Ptk2b	A	T	14: 66,393,841 (GRCm39)	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,270,846 (GRCm39)	M647R	probably damaging	Het
Rp1	A	G	1: 4,419,007 (GRCm39)	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161 (GRCm39)	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,123,334 (GRCm39)	V433D	possibly damaging	Het
Spata31h1	A	T	10: 82,127,726 (GRCm39)	N1761K	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,686,559 (GRCm39)	K705N	probably damaging	Het
Thbs1	C	A	2: 117,943,719 (GRCm39)	N112K	probably benign	Het
Zfp658	T	C	7: 43,222,919 (GRCm39)	I398T	possibly 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
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
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'- TTGTGGTGGAGCACAAGAGC -3'
(R):5'- GTGTCCTTACTCACCACAGG -3'

Sequencing Primer
(F):5'- AGAGCTCCCGTCACAGCAG -3'
(R):5'- ACAGGTGACCAGTTCTCAGC -3'

Posted On

2021-03-08