Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Dpp4'

569984

Institutional Source

Beutler Lab

Gene Symbol

Dpp4

Ensembl Gene

ENSMUSG00000035000

Gene Name

dipeptidylpeptidase 4

Synonyms

Cd26, THAM, Dpp-4

MMRRC Submission

045433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62160417-62242575 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 62189245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 429 (Q429*)

Ref Sequence

ENSEMBL: ENSMUSP00000044050 (fasta)

Gene Model

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

AlphaFold

P28843

Predicted Effect

probably null
Transcript: ENSMUST00000047812
AA Change: Q429*

SMART Domains

Protein: ENSMUSP00000044050
Gene: ENSMUSG00000035000
AA Change: Q429*

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Deaf1	A	T	7: 140,902,871 (GRCm39)	V151D	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gbe1	A	G	16: 70,157,903 (GRCm39)	T101A	probably benign	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pcdha1	T	C	18: 37,063,702 (GRCm39)	V122A	probably damaging	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Sulf2	T	G	2: 165,919,536 (GRCm39)	D804A	possibly damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Trpv4	G	C	5: 114,774,520 (GRCm39)	P188R	probably benign	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	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
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
R9616:Dpp4	UTSW	2	62,217,429 (GRCm39)	missense	probably damaging	1.00
R9777:Dpp4	UTSW	2	62,195,340 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGCTCCTATGTTGCCAAAGG -3'
(R):5'- TGGCATACCCTAATTATGGGAGAC -3'

Sequencing Primer
(F):5'- TGTCCCTCAGCACTGTAGG -3'
(R):5'- CCTCTGAGACTGGAACATG -3'

Posted On

2019-09-13