Mutagenetix > Incidental Mutation

Incidental Mutation 'R2279:Dpep1'

242975

Institutional Source

Beutler Lab

Gene Symbol

Dpep1

Ensembl Gene

ENSMUSG00000019278

Gene Name

dipeptidase 1

Synonyms

MBD

MMRRC Submission

040278-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R2279 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

123913069-123928551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123920883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 21 (D21V)

Ref Sequence

ENSEMBL: ENSMUSP00000148823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019422] [ENSMUST00000127664] [ENSMUST00000212409] [ENSMUST00000212773]

AlphaFold

P31428

Predicted Effect

probably benign
Transcript: ENSMUST00000019422
AA Change: D21V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: D21V

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M19	25	352	4.1e-122	PFAM
low complexity region	398	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212409
AA Change: D21V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000212773
AA Change: D21V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	T	5: 90,412,576 (GRCm39)	N1249K	probably damaging	Het
Anks1b	T	C	10: 89,885,958 (GRCm39)	M218T	probably damaging	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cabin1	T	C	10: 75,589,295 (GRCm39)	I87M	probably benign	Het
Cdc42bpa	A	G	1: 179,864,484 (GRCm39)	N149D	probably damaging	Het
Cdh20	C	A	1: 104,875,139 (GRCm39)	A307E	probably damaging	Het
Cdk18	A	T	1: 132,043,690 (GRCm39)	Y385N	probably damaging	Het
Cfap410	T	C	10: 77,817,476 (GRCm39)	Y68H	probably damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cptp	A	G	4: 155,950,878 (GRCm39)	I196T	probably damaging	Het
Cyp4b1	T	A	4: 115,497,557 (GRCm39)	Y147F	probably benign	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dbr1	G	T	9: 99,462,200 (GRCm39)	Q166H	probably benign	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dspp	G	A	5: 104,326,250 (GRCm39)	S871N	unknown	Het
En1	T	A	1: 120,534,916 (GRCm39)	*402K	probably null	Het
Eogt	G	T	6: 97,111,262 (GRCm39)	R200S	probably benign	Het
Epb41l3	A	G	17: 69,577,645 (GRCm39)	T542A	possibly damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gask1a	T	C	9: 121,794,668 (GRCm39)	I274T	probably benign	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Htra1	A	T	7: 130,563,752 (GRCm39)	I208F	probably damaging	Het
Ifna13	T	A	4: 88,562,156 (GRCm39)	E156V	probably benign	Het
Ints6	A	G	14: 62,942,131 (GRCm39)		probably null	Het
Kifc5b	A	G	17: 27,144,515 (GRCm39)	I545V	probably damaging	Het
Lrrc4c	C	T	2: 97,460,850 (GRCm39)	S492F	possibly damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Map2k6	T	C	11: 110,390,290 (GRCm39)	S275P	probably damaging	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrpl48	G	A	7: 100,214,471 (GRCm39)	T48I	probably damaging	Het
Neu1	A	G	17: 35,153,350 (GRCm39)	D291G	probably damaging	Het
Nktr	A	G	9: 121,560,603 (GRCm39)	K116E	possibly damaging	Het
Npc1	T	C	18: 12,330,236 (GRCm39)		probably null	Het
Or6b9	A	T	7: 106,555,834 (GRCm39)	M103K	probably benign	Het
Or6c1b	A	T	10: 129,273,526 (GRCm39)	M282L	probably benign	Het
Or8k1	T	C	2: 86,047,148 (GRCm39)	E302G	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rnf32	G	T	5: 29,430,278 (GRCm39)	V366F	probably benign	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Sirt7	T	C	11: 120,515,321 (GRCm39)	S112G	probably damaging	Het
Slc1a6	A	T	10: 78,624,882 (GRCm39)	M96L	probably benign	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc30a2	G	T	4: 134,075,857 (GRCm39)	Q210H	probably benign	Het
Sorcs2	A	T	5: 36,199,430 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Sytl3	A	G	17: 6,976,273 (GRCm39)		probably benign	Het
Tasor	A	C	14: 27,164,452 (GRCm39)	K253Q	probably damaging	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Txlna	T	C	4: 129,525,935 (GRCm39)	E304G	probably damaging	Het
Zfp709	T	C	8: 72,642,934 (GRCm39)	V121A	probably benign	Het

Other mutations in Dpep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Dpep1	APN	8	123,926,354 (GRCm39)	splice site	probably benign
IGL02354:Dpep1	APN	8	123,926,957 (GRCm39)	missense	probably benign
IGL02361:Dpep1	APN	8	123,926,957 (GRCm39)	missense	probably benign
IGL02527:Dpep1	APN	8	123,925,487 (GRCm39)	missense	probably damaging	1.00
IGL02723:Dpep1	APN	8	123,920,888 (GRCm39)	missense	possibly damaging	0.95
R0190:Dpep1	UTSW	8	123,927,447 (GRCm39)	missense	probably benign	0.21
R1348:Dpep1	UTSW	8	123,925,899 (GRCm39)	missense	probably benign	0.02
R1719:Dpep1	UTSW	8	123,927,486 (GRCm39)	missense	possibly damaging	0.67
R2060:Dpep1	UTSW	8	123,927,130 (GRCm39)	missense	probably damaging	0.99
R2081:Dpep1	UTSW	8	123,926,117 (GRCm39)	missense	probably damaging	0.97
R3931:Dpep1	UTSW	8	123,925,518 (GRCm39)	missense	possibly damaging	0.73
R4027:Dpep1	UTSW	8	123,920,892 (GRCm39)	missense	probably benign	0.12
R4836:Dpep1	UTSW	8	123,927,106 (GRCm39)	missense	probably damaging	1.00
R5007:Dpep1	UTSW	8	123,926,117 (GRCm39)	missense	probably damaging	0.97
R5149:Dpep1	UTSW	8	123,927,177 (GRCm39)	missense	probably benign	0.01
R5268:Dpep1	UTSW	8	123,920,828 (GRCm39)	missense	probably benign	0.12
R5774:Dpep1	UTSW	8	123,926,721 (GRCm39)	missense	probably damaging	1.00
R6041:Dpep1	UTSW	8	123,927,394 (GRCm39)	missense	probably damaging	0.99
R6335:Dpep1	UTSW	8	123,927,391 (GRCm39)	missense	probably damaging	1.00
R7705:Dpep1	UTSW	8	123,927,460 (GRCm39)	missense	possibly damaging	0.94
R7993:Dpep1	UTSW	8	123,927,460 (GRCm39)	missense	possibly damaging	0.94
R8130:Dpep1	UTSW	8	123,926,965 (GRCm39)	missense	probably damaging	1.00
R8810:Dpep1	UTSW	8	123,926,764 (GRCm39)	missense	probably benign	0.02
T0975:Dpep1	UTSW	8	123,927,727 (GRCm39)	missense	probably damaging	0.99
X0005:Dpep1	UTSW	8	123,927,727 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCGTCTTAATTACCCGGACC -3'
(R):5'- ACTGTGTGGGTCCTAAGATACTC -3'

Sequencing Primer
(F):5'- GTCTTAATTACCCGGACCAAAGG -3'
(R):5'- ATCTCGATAGGGGGTCA -3'

Posted On

2014-10-16