Mutagenetix > Incidental Mutations

Incidental Mutation 'R3765:Dpp4'

274636

Institutional Source

Beutler Lab

Gene Symbol

Dpp4

Ensembl Gene

ENSMUSG00000035000

Gene Name

dipeptidylpeptidase 4

Synonyms

Dpp-4, THAM, Cd26

MMRRC Submission

040742-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62330073-62412231 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62386436 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 92 (T92S)

Ref Sequence

ENSEMBL: ENSMUSP00000044050 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047812
AA Change: T92S

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: T92S

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: ENSMUST00000136879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149306

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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 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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,608,837	V403A	probably benign	Het
Arid2	T	C	15: 96,370,714	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,192,231	W37R	probably damaging	Het
Bag3	C	T	7: 128,540,271	T162I	probably benign	Het
C4b	G	A	17: 34,729,840	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,747,552	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,835,575	N119S	probably benign	Het
Churc1	C	A	12: 76,773,283	S22*	probably null	Het
Crbn	T	C	6: 106,795,026	K106E	possibly damaging	Het
Dag1	C	T	9: 108,208,199	G581E	probably damaging	Het
Fam135a	T	C	1: 24,055,877	T137A	possibly damaging	Het
Fermt1	T	C	2: 132,906,702	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,955,986	I109N	probably damaging	Het
Frk	A	G	10: 34,484,005	M1V	probably null	Het
Fuk	A	G	8: 110,887,104	I775T	probably benign	Het
Gstm2	A	G	3: 107,984,030	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,745,025	S1145G	possibly damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Jmy	T	C	13: 93,464,711	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,578,682		probably null	Het
Mre11a	A	G	9: 14,809,847	N354S	probably benign	Het
Nbea	A	G	3: 56,005,549	V939A	probably damaging	Het
Nphs1	T	C	7: 30,471,210	S928P	probably damaging	Het
Olfr1463	G	A	19: 13,234,431	M60I	probably damaging	Het
Olfr19	A	G	16: 16,673,315	V222A	probably benign	Het
Olfr311	T	C	11: 58,841,294	F60S	probably damaging	Het
Olfr954	T	A	9: 39,461,624	Y61*	probably null	Het
Pla2g12b	G	A	10: 59,421,501	V169M	probably damaging	Het
Polr1c	C	T	17: 46,247,924	V14M	probably damaging	Het
Prg4	G	A	1: 150,451,371	S898L	probably damaging	Het
Prmt6	C	A	3: 110,250,194	E260*	probably null	Het
Ptx4	A	G	17: 25,122,868	T106A	probably benign	Het
Rab3il1	A	G	19: 10,028,309	T87A	probably damaging	Het
Sbf2	A	G	7: 110,375,581	V783A	probably damaging	Het
Scn2a	A	C	2: 65,682,710	D209A	possibly damaging	Het
Setd2	T	C	9: 110,594,246	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,798,749	D34G	probably damaging	Het
Slc9c1	A	T	16: 45,590,881	M934L	possibly damaging	Het
Slx4	A	G	16: 3,980,986	V1357A	probably damaging	Het
Spidr	T	C	16: 15,968,640	E413G	probably benign	Het
Taar1	A	G	10: 23,921,307	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,476,417	D197E	probably benign	Het
Taf1c	G	T	8: 119,600,485	Y418*	probably null	Het
Tanc2	A	G	11: 105,914,970	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,689	D235G	probably benign	Het
Tns3	G	A	11: 8,451,133	A1055V	probably benign	Het
Wdfy3	A	G	5: 101,861,400	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 108,792,762	N172S	probably damaging	Het
Zfp839	T	C	12: 110,855,163	V137A	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
R1004:Dpp4	UTSW	2	62332640	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- GCCATGGAGTGAAGACAAATCC -3'
(R):5'- TTATGTGCCCTGTGTGAACG -3'

Sequencing Primer
(F):5'- TCCAGAGGAACACTTACATTCAAG -3'
(R):5'- GCAATCTGTCGTACTGATC -3'

Posted On

2015-04-02