Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Dpep3'

70187

Institutional Source

Beutler Lab

Gene Symbol

Dpep3

Ensembl Gene

ENSMUSG00000031898

Gene Name

dipeptidase 3

Synonyms

MBD-3, 1700018F16Rik

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106700152-106706051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106704018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 267 (A267T)

Ref Sequence

ENSEMBL: ENSMUSP00000034371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034371]

AlphaFold

Q9DA79

Predicted Effect

probably benign
Transcript: ENSMUST00000034371
AA Change: A267T

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034371
Gene: ENSMUSG00000031898
AA Change: A267T

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:Peptidase_M19	83	404	1.2e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212917

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Frmd6	A	G	12: 70,910,830 (GRCm39)	T5A	probably benign	Het
Gnb5	G	A	9: 75,218,752 (GRCm39)	V26I	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pgap2	C	A	7: 101,886,343 (GRCm39)	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psmc3	A	G	2: 90,884,645 (GRCm39)	E18G	probably benign	Het
Psme3	T	G	11: 101,207,872 (GRCm39)	M9R	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Tet2	T	G	3: 133,173,231 (GRCm39)	H1677P	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	Het

Other mutations in Dpep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Dpep3	APN	8	106,705,779 (GRCm39)	missense	probably benign	0.22
IGL01078:Dpep3	APN	8	106,704,860 (GRCm39)	missense	probably damaging	1.00
IGL01543:Dpep3	APN	8	106,702,814 (GRCm39)	missense	probably damaging	1.00
IGL01996:Dpep3	APN	8	106,701,358 (GRCm39)	missense	probably damaging	1.00
IGL02036:Dpep3	APN	8	106,700,417 (GRCm39)	missense	probably benign
R0422:Dpep3	UTSW	8	106,702,750 (GRCm39)	critical splice donor site	probably null
R0627:Dpep3	UTSW	8	106,705,363 (GRCm39)	missense	possibly damaging	0.56
R1116:Dpep3	UTSW	8	106,705,461 (GRCm39)	missense	probably damaging	0.98
R1711:Dpep3	UTSW	8	106,700,325 (GRCm39)	missense	probably benign	0.01
R2085:Dpep3	UTSW	8	106,701,346 (GRCm39)	missense	probably damaging	1.00
R4385:Dpep3	UTSW	8	106,704,818 (GRCm39)	missense	probably damaging	1.00
R4860:Dpep3	UTSW	8	106,702,821 (GRCm39)	missense	probably benign	0.34
R4860:Dpep3	UTSW	8	106,702,821 (GRCm39)	missense	probably benign	0.34
R5784:Dpep3	UTSW	8	106,705,375 (GRCm39)	missense	probably benign	0.03
R6658:Dpep3	UTSW	8	106,705,728 (GRCm39)	missense	probably benign
R6893:Dpep3	UTSW	8	106,700,474 (GRCm39)	missense	probably benign
R7536:Dpep3	UTSW	8	106,704,032 (GRCm39)	missense	probably damaging	1.00
R9213:Dpep3	UTSW	8	106,700,245 (GRCm39)	missense	probably benign	0.15
R9528:Dpep3	UTSW	8	106,704,251 (GRCm39)	missense	probably benign	0.01
R9766:Dpep3	UTSW	8	106,705,369 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACAGAGATTTTCCAAAGGGGTCTTG -3'
(R):5'- TCACTGATAGCTAAACTCTAGCCAGCC -3'

Sequencing Primer
(F):5'- ACTCCACTCACCAGAAGTTG -3'
(R):5'- ACTCTAGCCAGCCAGGATTTG -3'

Posted On

2013-09-30