Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Dpp8'

656158

Institutional Source

Beutler Lab

Gene Symbol

Dpp8

Ensembl Gene

ENSMUSG00000032393

Gene Name

dipeptidylpeptidase 8

Synonyms

2310004I03Rik, 4932434F09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65032414-65082651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65078009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 783 (T783K)

Ref Sequence

ENSEMBL: ENSMUSP00000034960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034960] [ENSMUST00000167773] [ENSMUST00000217434]

AlphaFold

Q80YA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034960
AA Change: T783K

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

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: T783K

Domain	Start	End	E-Value	Type
low complexity region	144	154	N/A	INTRINSIC
Pfam:DPPIV_N	168	589	1e-100	PFAM
Pfam:Peptidase_S15	636	830	7.3e-11	PFAM
Pfam:Abhydrolase_5	671	860	4.8e-9	PFAM
Pfam:Peptidase_S9	676	885	6.5e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167773
AA Change: T783K

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

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: T783K

Domain	Start	End	E-Value	Type
low complexity region	144	154	N/A	INTRINSIC
Pfam:DPPIV_N	168	589	3.3e-102	PFAM
Pfam:Peptidase_S15	636	830	7.3e-11	PFAM
Pfam:Abhydrolase_5	670	860	6.5e-9	PFAM
Pfam:Peptidase_S9	677	885	8.6e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217434

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly damaging	Het

Other mutations in Dpp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Dpp8	APN	9	65078008	missense	probably damaging	1.00
IGL00576:Dpp8	APN	9	65043829	missense	probably benign	0.32
IGL01303:Dpp8	APN	9	65055012	splice site	probably benign
IGL01506:Dpp8	APN	9	65063417	splice site	probably benign
IGL01544:Dpp8	APN	9	65054988	missense	probably benign	0.05
IGL02387:Dpp8	APN	9	65045716	missense	probably damaging	1.00
IGL02567:Dpp8	APN	9	65078776	nonsense	probably null
IGL02611:Dpp8	APN	9	65055793	missense	probably benign	0.15
IGL02723:Dpp8	APN	9	65042267	missense	possibly damaging	0.91
IGL02927:Dpp8	APN	9	65060269	missense	probably benign	0.09
IGL03116:Dpp8	APN	9	65066467	missense	probably damaging	0.96
IGL03135:Dpp8	APN	9	65053040	splice site	probably null
IGL03356:Dpp8	APN	9	65045787	missense	probably benign	0.00
almaviva	UTSW	9	65075803	missense	probably damaging	1.00
bartolo	UTSW	9	65078718	missense	probably damaging	1.00
Cherubino	UTSW	9	65054923	missense	probably benign
rosina	UTSW	9	65075784	missense	possibly damaging	0.88
IGL03050:Dpp8	UTSW	9	65054836	missense	probably benign	0.00
R0498:Dpp8	UTSW	9	65045795	splice site	probably benign
R0594:Dpp8	UTSW	9	65036998	missense	probably damaging	1.00
R0675:Dpp8	UTSW	9	65066502	splice site	probably benign
R0699:Dpp8	UTSW	9	65054894	missense	probably benign	0.01
R0831:Dpp8	UTSW	9	65078679	missense	possibly damaging	0.56
R1148:Dpp8	UTSW	9	65053832	critical splice donor site	probably null
R1148:Dpp8	UTSW	9	65053832	critical splice donor site	probably null
R1512:Dpp8	UTSW	9	65063814	splice site	probably benign
R1515:Dpp8	UTSW	9	65078748	missense	probably benign	0.04
R1546:Dpp8	UTSW	9	65063493	missense	possibly damaging	0.76
R1556:Dpp8	UTSW	9	65051479	missense	probably damaging	1.00
R2027:Dpp8	UTSW	9	65078774	missense	probably damaging	1.00
R2104:Dpp8	UTSW	9	65074567	splice site	probably null
R2113:Dpp8	UTSW	9	65063868	missense	probably benign	0.00
R2656:Dpp8	UTSW	9	65080804	missense	probably damaging	1.00
R4237:Dpp8	UTSW	9	65054923	missense	probably benign
R4238:Dpp8	UTSW	9	65054923	missense	probably benign
R4239:Dpp8	UTSW	9	65054923	missense	probably benign
R4595:Dpp8	UTSW	9	65075803	missense	probably damaging	1.00
R4614:Dpp8	UTSW	9	65066396	missense	probably benign	0.00
R4946:Dpp8	UTSW	9	65055918	missense	probably benign	0.00
R5338:Dpp8	UTSW	9	65063924	nonsense	probably null
R5378:Dpp8	UTSW	9	65078014	missense	probably damaging	1.00
R5506:Dpp8	UTSW	9	65078109	splice site	probably null
R5644:Dpp8	UTSW	9	65045735	nonsense	probably null
R5862:Dpp8	UTSW	9	65045722	missense	probably benign	0.03
R6437:Dpp8	UTSW	9	65074578	missense	probably benign	0.01
R6783:Dpp8	UTSW	9	65063562	missense	possibly damaging	0.76
R6863:Dpp8	UTSW	9	65035008	missense	probably damaging	0.98
R7192:Dpp8	UTSW	9	65045786	missense	possibly damaging	0.70
R7461:Dpp8	UTSW	9	65053120	missense	possibly damaging	0.86
R7514:Dpp8	UTSW	9	65078754	missense	probably damaging	1.00
R7548:Dpp8	UTSW	9	65037235	missense	probably damaging	1.00
R7584:Dpp8	UTSW	9	65078782	missense	probably damaging	0.98
R7605:Dpp8	UTSW	9	65054958	missense	probably benign	0.33
R7613:Dpp8	UTSW	9	65053120	missense	possibly damaging	0.86
R7665:Dpp8	UTSW	9	65078718	missense	probably damaging	1.00
R7698:Dpp8	UTSW	9	65042336	missense	probably benign	0.00
R7844:Dpp8	UTSW	9	65045667	missense	probably damaging	0.99
R7935:Dpp8	UTSW	9	65036980	missense	possibly damaging	0.82
R8079:Dpp8	UTSW	9	65043735	missense	probably damaging	1.00
R8121:Dpp8	UTSW	9	65078080	missense	probably benign	0.10
R8315:Dpp8	UTSW	9	65080851	makesense	probably null
R8419:Dpp8	UTSW	9	65080755	missense	probably benign	0.34
R8524:Dpp8	UTSW	9	65043707	missense	probably damaging	1.00
R8896:Dpp8	UTSW	9	65078036	missense	possibly damaging	0.88
R8922:Dpp8	UTSW	9	65074511	missense	probably benign	0.02
R8935:Dpp8	UTSW	9	65075784	missense	possibly damaging	0.88
Z1177:Dpp8	UTSW	9	65063866	frame shift	probably null
Z1177:Dpp8	UTSW	9	65066485	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGCTGCCCCAGTTTCAG -3'
(R):5'- CTCAATCCCCAGTACTGAGGAAG -3'

Sequencing Primer
(F):5'- CGAAGCTTAGTGACTCATGGAGTATC -3'
(R):5'- CTTACTCTGAGGGGAACTTC -3'

Posted On

2020-10-20