Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Dpp4'

97908

Institutional Source

Beutler Lab

Gene Symbol

Dpp4

Ensembl Gene

ENSMUSG00000035000

Gene Name

dipeptidylpeptidase 4

Synonyms

Dpp-4, THAM, Cd26

MMRRC Submission

039114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62330073-62412231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62332640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 754 (Q754L)

Ref Sequence

ENSEMBL: ENSMUSP00000044050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047812]

AlphaFold

P28843

Predicted Effect

probably benign
Transcript: ENSMUST00000047812
AA Change: Q754L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: Q754L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DPPIV_N	102	473	5.7e-110	PFAM
Pfam:Abhydrolase_5	545	752	1e-11	PFAM
Pfam:DLH	546	754	4e-7	PFAM
Pfam:Peptidase_S9	551	760	3.4e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156871

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

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 identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show hypoglycemia, hyperinsulinemia, and increased plasma glucagon-like peptide 1 in glucose tolerance tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,151,954	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,803,451	E453V	probably damaging	Het
Agxt	A	G	1: 93,135,699	M108V	possibly damaging	Het
Akap13	T	C	7: 75,687,286	I831T	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arid1a	A	G	4: 133,687,275	M1215T	unknown	Het
Cd163	G	T	6: 124,325,347	D957Y	probably damaging	Het
Ces2e	A	G	8: 104,929,738	D200G	probably damaging	Het
Cfap54	T	C	10: 93,066,696		probably benign	Het
Col11a1	A	G	3: 114,095,022		probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Ece1	A	G	4: 137,926,239	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544	V779M	possibly damaging	Het
Gatm	C	T	2: 122,609,660		probably benign	Het
Gm20767	T	A	13: 120,155,022	D132E	probably benign	Het
Gpc2	A	G	5: 138,278,225	L213P	probably damaging	Het
Hook1	A	C	4: 96,022,287	N713H	probably benign	Het
Kdm5b	T	A	1: 134,588,904	I178K	possibly damaging	Het
Mettl9	G	A	7: 121,076,237	V287I	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,140,917	T3774I	probably benign	Het
Nupl1	C	A	14: 60,247,481		probably benign	Het
Nxf1	A	T	19: 8,764,317	T119S	probably benign	Het
Oaz3	T	A	3: 94,435,043	H102L	probably damaging	Het
Olfr971	T	C	9: 39,839,980	F182S	probably benign	Het
Pfpl	A	T	19: 12,430,425	Q680L	probably benign	Het
Poli	T	A	18: 70,525,438	Q75L	probably benign	Het
Ppp2r3a	C	T	9: 101,198,630		probably null	Het
Prr30	A	G	14: 101,199,093	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,377,602	Y345F	probably benign	Het
Ric1	A	G	19: 29,602,357	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,334,242		probably benign	Het
Sh3bgrl2	C	T	9: 83,577,631		probably benign	Het
Skp1a	G	C	11: 52,237,380		probably benign	Het
Slc12a9	T	C	5: 137,322,524	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,618,399	N35S	probably damaging	Het
Xrcc5	A	G	1: 72,383,778		probably benign	Het
Zfp235	T	A	7: 24,140,744	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,196,533		probably benign	Het

Other mutations in Dpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Dpp4	APN	2	62379302	missense	probably damaging	1.00
IGL02205:Dpp4	APN	2	62352257	missense	probably damaging	1.00
IGL02276:Dpp4	APN	2	62356951	splice site	probably benign
IGL02335:Dpp4	APN	2	62334644	missense	probably benign	0.03
IGL02615:Dpp4	APN	2	62359328	missense	probably damaging	1.00
IGL02639:Dpp4	APN	2	62352240	missense	probably benign
IGL02972:Dpp4	APN	2	62352225	missense	probably damaging	1.00
IGL03366:Dpp4	APN	2	62356957	splice site	probably null
caribou	UTSW	2	62347901	missense	possibly damaging	0.69
PIT4449001:Dpp4	UTSW	2	62356644	missense	probably benign	0.00
R0502:Dpp4	UTSW	2	62364988	missense	probably damaging	0.99
R0581:Dpp4	UTSW	2	62356676	missense	probably benign
R1075:Dpp4	UTSW	2	62352286	missense	probably benign	0.39
R1476:Dpp4	UTSW	2	62347901	missense	possibly damaging	0.69
R1702:Dpp4	UTSW	2	62386429	critical splice donor site	probably null
R1707:Dpp4	UTSW	2	62359335	splice site	probably benign
R1733:Dpp4	UTSW	2	62372869	critical splice acceptor site	probably null
R1899:Dpp4	UTSW	2	62345050	splice site	probably benign
R2264:Dpp4	UTSW	2	62378239	missense	possibly damaging	0.71
R2496:Dpp4	UTSW	2	62387133	missense	possibly damaging	0.90
R3765:Dpp4	UTSW	2	62386436	missense	probably benign	0.17
R4278:Dpp4	UTSW	2	62379323	missense	probably damaging	1.00
R4413:Dpp4	UTSW	2	62387140	missense	possibly damaging	0.89
R4432:Dpp4	UTSW	2	62345112	missense	probably damaging	1.00
R4647:Dpp4	UTSW	2	62334605	missense	probably damaging	1.00
R4710:Dpp4	UTSW	2	62360315	missense	probably benign	0.04
R4914:Dpp4	UTSW	2	62347892	missense	probably benign	0.20
R5173:Dpp4	UTSW	2	62387130	missense	probably damaging	1.00
R5283:Dpp4	UTSW	2	62360336	missense	probably damaging	1.00
R5698:Dpp4	UTSW	2	62334311	missense	probably damaging	1.00
R6621:Dpp4	UTSW	2	62352140	missense	probably damaging	1.00
R6681:Dpp4	UTSW	2	62348549	missense	probably benign	0.01
R6739:Dpp4	UTSW	2	62387095	missense	probably benign
R6962:Dpp4	UTSW	2	62372830	missense	probably benign	0.11
R7249:Dpp4	UTSW	2	62385203	missense	probably benign	0.14
R7268:Dpp4	UTSW	2	62347842	missense	probably damaging	1.00
R7343:Dpp4	UTSW	2	62358901	nonsense	probably null
R7357:Dpp4	UTSW	2	62387077	missense	probably benign
R7366:Dpp4	UTSW	2	62354599	missense	probably damaging	1.00
R7413:Dpp4	UTSW	2	62356989	missense	probably damaging	1.00
R7431:Dpp4	UTSW	2	62352238	missense	probably benign	0.01
R7642:Dpp4	UTSW	2	62360283	critical splice donor site	probably null
R8004:Dpp4	UTSW	2	62358828	missense	probably benign	0.00
R8197:Dpp4	UTSW	2	62372827	missense	probably benign	0.31
R8341:Dpp4	UTSW	2	62347890	missense	probably benign	0.10
R8706:Dpp4	UTSW	2	62378303	missense	probably benign	0.00
R8977:Dpp4	UTSW	2	62374403	missense	probably benign	0.29
R8997:Dpp4	UTSW	2	62334614	missense	probably damaging	0.99
R9100:Dpp4	UTSW	2	62374389	missense	possibly damaging	0.51
R9616:Dpp4	UTSW	2	62387085	missense	probably damaging	1.00
R9777:Dpp4	UTSW	2	62364996	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTCTGGCAGTGAACAGCTCTTCTC -3'
(R):5'- ACATGTCTTGAACAGCTCTGGTGG -3'

Sequencing Primer
(F):5'- TGGGGACAGGCATCCTTAG -3'
(R):5'- AGGCTTATAAACCATTCCCGTTG -3'

Posted On

2014-01-05