Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Dpp4'

724557

Institutional Source

Beutler Lab

Gene Symbol

Dpp4

Ensembl Gene

ENSMUSG00000035000

Gene Name

dipeptidylpeptidase 4

Synonyms

Cd26, THAM, Dpp-4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62160417-62242575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62217429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 56 (Y56C)

Ref Sequence

ENSEMBL: ENSMUSP00000044050 (fasta)

Gene Model

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

AlphaFold

P28843

Predicted Effect

probably damaging
Transcript: ENSMUST00000047812
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: Y56C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,080,480 (GRCm39)	D189E	probably benign	Het
Abca13	A	T	11: 9,240,501 (GRCm39)	H788L	probably benign	Het
Abcb1b	A	G	5: 8,862,779 (GRCm39)	I154V	probably benign	Het
Acsm4	A	G	7: 119,293,872 (GRCm39)	N81S	probably benign	Het
Adamts5	G	A	16: 85,659,674 (GRCm39)	H873Y	probably benign	Het
Aox4	C	T	1: 58,268,020 (GRCm39)	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,229,367 (GRCm39)	V336A	probably damaging	Het
Brca1	C	T	11: 101,416,683 (GRCm39)	E484K	probably damaging	Het
Capn13	T	A	17: 73,672,964 (GRCm39)	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,892,078 (GRCm39)	E274K		Het
Cfh	A	T	1: 140,030,254 (GRCm39)	I891K	probably damaging	Het
Cgn	A	G	3: 94,670,332 (GRCm39)	S1041P	probably damaging	Het
Cldn18	T	C	9: 99,580,915 (GRCm39)	D111G	probably benign	Het
Cnp	G	A	11: 100,467,261 (GRCm39)	R68Q	probably benign	Het
Cntn4	T	A	6: 106,674,525 (GRCm39)	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,029,323 (GRCm39)	I259T	probably benign	Het
Cubn	A	G	2: 13,319,529 (GRCm39)	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,501,648 (GRCm39)	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddc	C	T	11: 11,772,288 (GRCm39)	W349*	probably null	Het
Dennd3	A	G	15: 73,440,563 (GRCm39)	E1198G	probably benign	Het
Dnah1	T	C	14: 31,026,400 (GRCm39)	D826G	probably null	Het
Etv6	A	G	6: 134,243,295 (GRCm39)	D350G	possibly damaging	Het
Fat1	C	A	8: 45,406,075 (GRCm39)	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,916,159 (GRCm39)	F418L	probably benign	Het
Fbxo11	T	A	17: 88,316,098 (GRCm39)	H368L		Het
Fhl2	G	T	1: 43,167,546 (GRCm39)	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,649,461 (GRCm39)	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Greb1	A	T	12: 16,790,038 (GRCm39)	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,684,473 (GRCm39)	S366R	probably benign	Het
Il17b	A	G	18: 61,825,363 (GRCm39)	Q133R	probably benign	Het
Inha	T	A	1: 75,486,211 (GRCm39)	S169T	probably benign	Het
Itsn1	G	A	16: 91,650,055 (GRCm39)	R243H	probably benign	Het
Kcnu1	G	GA	8: 26,403,675 (GRCm39)		probably null	Het
Kdm1b	A	G	13: 47,234,030 (GRCm39)	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,370,308 (GRCm39)	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,628,795 (GRCm39)	G100C	probably benign	Het
Knl1	T	C	2: 118,899,994 (GRCm39)	V565A	probably benign	Het
Knl1	A	T	2: 118,907,425 (GRCm39)	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,580,719 (GRCm39)	V270A	probably benign	Het
Lrrc15	A	G	16: 30,092,517 (GRCm39)	L274P	probably damaging	Het
Mertk	C	T	2: 128,643,255 (GRCm39)	L885F	probably benign	Het
Mpst	T	A	15: 78,294,361 (GRCm39)	L31*	probably null	Het
Ms4a10	T	C	19: 10,944,440 (GRCm39)	T115A	possibly damaging	Het
Myof	A	G	19: 37,923,263 (GRCm39)	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,240,142 (GRCm39)	I201T	probably damaging	Het
Nefh	T	A	11: 4,889,443 (GRCm39)	K1059*	probably null	Het
Nek1	T	C	8: 61,473,107 (GRCm39)	Y168H	probably damaging	Het
Nek11	T	A	9: 105,082,011 (GRCm39)	T531S	probably damaging	Het
Nelfa	G	A	5: 34,059,127 (GRCm39)	P243S	possibly damaging	Het
Niban1	T	C	1: 151,512,193 (GRCm39)	Y32H	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Or13c7d	T	A	4: 43,770,193 (GRCm39)	K273*	probably null	Het
Or52b2	A	C	7: 104,986,520 (GRCm39)	Y134*	probably null	Het
Or9i16	A	G	19: 13,864,861 (GRCm39)	S238P	probably damaging	Het
Otof	A	G	5: 30,539,708 (GRCm39)	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Per1	G	T	11: 68,993,554 (GRCm39)	C368F	probably damaging	Het
Pitrm1	G	T	13: 6,605,602 (GRCm39)	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,459,118 (GRCm39)	A119V		Het
Pycard	C	T	7: 127,592,776 (GRCm39)	G17E	probably benign	Het
Rnf13	A	G	3: 57,740,430 (GRCm39)	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,494,689 (GRCm39)	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,691,061 (GRCm39)	V1838A	probably benign	Het
Sgo2b	C	T	8: 64,380,274 (GRCm39)	V853I	probably benign	Het
Slc1a4	T	C	11: 20,282,403 (GRCm39)	T24A	probably benign	Het
Slc8a1	T	C	17: 81,955,407 (GRCm39)	T544A	probably benign	Het
Sntg2	T	C	12: 30,326,732 (GRCm39)	N143S	probably benign	Het
Sphkap	T	C	1: 83,254,989 (GRCm39)	E920G	probably damaging	Het
Srgap2	T	A	1: 131,252,828 (GRCm39)	H132L		Het
Srgap3	A	T	6: 112,748,524 (GRCm39)	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,036,314 (GRCm39)	K434E	probably damaging	Het
Tab2	A	T	10: 7,795,005 (GRCm39)	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,037,246 (GRCm39)	Q666R	possibly damaging	Het
Tekt4	T	C	17: 25,692,782 (GRCm39)		probably null	Het
Tnni3k	G	A	3: 154,667,724 (GRCm39)	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,066,657 (GRCm39)	S690A	probably benign	Het
Trpa1	C	A	1: 14,989,077 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,858,132 (GRCm39)	V324G	probably damaging	Het
Usp29	A	G	7: 6,966,179 (GRCm39)	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 41,661,299 (GRCm39)	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,445,724 (GRCm39)	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,356,305 (GRCm39)	F657L	possibly damaging	Het
Vps13d	A	G	4: 144,824,701 (GRCm39)	V2923A		Het
Xylb	T	A	9: 119,201,022 (GRCm39)	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,316,473 (GRCm39)	T95M	probably benign	Het
Zfp263	C	T	16: 3,567,482 (GRCm39)	P599L	probably damaging	Het
Zfp532	A	G	18: 65,789,639 (GRCm39)	E1026G	probably benign	Het
Zfp78	A	G	7: 6,382,078 (GRCm39)	N376S	probably benign	Het

Other mutations in Dpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Dpp4	APN	2	62,209,646 (GRCm39)	missense	probably damaging	1.00
IGL02205:Dpp4	APN	2	62,182,601 (GRCm39)	missense	probably damaging	1.00
IGL02276:Dpp4	APN	2	62,187,295 (GRCm39)	splice site	probably benign
IGL02335:Dpp4	APN	2	62,164,988 (GRCm39)	missense	probably benign	0.03
IGL02615:Dpp4	APN	2	62,189,672 (GRCm39)	missense	probably damaging	1.00
IGL02639:Dpp4	APN	2	62,182,584 (GRCm39)	missense	probably benign
IGL02972:Dpp4	APN	2	62,182,569 (GRCm39)	missense	probably damaging	1.00
IGL03366:Dpp4	APN	2	62,187,301 (GRCm39)	splice site	probably null
caribou	UTSW	2	62,178,245 (GRCm39)	missense	possibly damaging	0.69
PIT4449001:Dpp4	UTSW	2	62,186,988 (GRCm39)	missense	probably benign	0.00
R0502:Dpp4	UTSW	2	62,195,332 (GRCm39)	missense	probably damaging	0.99
R0581:Dpp4	UTSW	2	62,187,020 (GRCm39)	missense	probably benign
R1004:Dpp4	UTSW	2	62,162,984 (GRCm39)	missense	probably benign	0.08
R1075:Dpp4	UTSW	2	62,182,630 (GRCm39)	missense	probably benign	0.39
R1476:Dpp4	UTSW	2	62,178,245 (GRCm39)	missense	possibly damaging	0.69
R1702:Dpp4	UTSW	2	62,216,773 (GRCm39)	critical splice donor site	probably null
R1707:Dpp4	UTSW	2	62,189,679 (GRCm39)	splice site	probably benign
R1733:Dpp4	UTSW	2	62,203,213 (GRCm39)	critical splice acceptor site	probably null
R1899:Dpp4	UTSW	2	62,175,394 (GRCm39)	splice site	probably benign
R2264:Dpp4	UTSW	2	62,208,583 (GRCm39)	missense	possibly damaging	0.71
R2496:Dpp4	UTSW	2	62,217,477 (GRCm39)	missense	possibly damaging	0.90
R3765:Dpp4	UTSW	2	62,216,780 (GRCm39)	missense	probably benign	0.17
R4278:Dpp4	UTSW	2	62,209,667 (GRCm39)	missense	probably damaging	1.00
R4413:Dpp4	UTSW	2	62,217,484 (GRCm39)	missense	possibly damaging	0.89
R4432:Dpp4	UTSW	2	62,175,456 (GRCm39)	missense	probably damaging	1.00
R4647:Dpp4	UTSW	2	62,164,949 (GRCm39)	missense	probably damaging	1.00
R4710:Dpp4	UTSW	2	62,190,659 (GRCm39)	missense	probably benign	0.04
R4914:Dpp4	UTSW	2	62,178,236 (GRCm39)	missense	probably benign	0.20
R5173:Dpp4	UTSW	2	62,217,474 (GRCm39)	missense	probably damaging	1.00
R5283:Dpp4	UTSW	2	62,190,680 (GRCm39)	missense	probably damaging	1.00
R5698:Dpp4	UTSW	2	62,164,655 (GRCm39)	missense	probably damaging	1.00
R6621:Dpp4	UTSW	2	62,182,484 (GRCm39)	missense	probably damaging	1.00
R6681:Dpp4	UTSW	2	62,178,893 (GRCm39)	missense	probably benign	0.01
R6739:Dpp4	UTSW	2	62,217,439 (GRCm39)	missense	probably benign
R6962:Dpp4	UTSW	2	62,203,174 (GRCm39)	missense	probably benign	0.11
R7249:Dpp4	UTSW	2	62,215,547 (GRCm39)	missense	probably benign	0.14
R7268:Dpp4	UTSW	2	62,178,186 (GRCm39)	missense	probably damaging	1.00
R7343:Dpp4	UTSW	2	62,189,245 (GRCm39)	nonsense	probably null
R7357:Dpp4	UTSW	2	62,217,421 (GRCm39)	missense	probably benign
R7366:Dpp4	UTSW	2	62,184,943 (GRCm39)	missense	probably damaging	1.00
R7413:Dpp4	UTSW	2	62,187,333 (GRCm39)	missense	probably damaging	1.00
R7431:Dpp4	UTSW	2	62,182,582 (GRCm39)	missense	probably benign	0.01
R7642:Dpp4	UTSW	2	62,190,627 (GRCm39)	critical splice donor site	probably null
R8004:Dpp4	UTSW	2	62,189,172 (GRCm39)	missense	probably benign	0.00
R8197:Dpp4	UTSW	2	62,203,171 (GRCm39)	missense	probably benign	0.31
R8341:Dpp4	UTSW	2	62,178,234 (GRCm39)	missense	probably benign	0.10
R8706:Dpp4	UTSW	2	62,208,647 (GRCm39)	missense	probably benign	0.00
R8977:Dpp4	UTSW	2	62,204,747 (GRCm39)	missense	probably benign	0.29
R8997:Dpp4	UTSW	2	62,164,958 (GRCm39)	missense	probably damaging	0.99
R9100:Dpp4	UTSW	2	62,204,733 (GRCm39)	missense	possibly damaging	0.51
R9777:Dpp4	UTSW	2	62,195,340 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGCCCATCATTAATGCCAAC -3'
(R):5'- CATATTTTGCATGCTGTGAGGC -3'

Sequencing Primer
(F):5'- TGAAAGTCAGAGATCTGCCTGCC -3'
(R):5'- GAGGCTTATTTTAACATTTTGGGCAC -3'

Posted On

2022-09-12