Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Dpp8'

344329

Institutional Source

Beutler Lab

Gene Symbol

Dpp8

Ensembl Gene

ENSMUSG00000032393

Gene Name

dipeptidylpeptidase 8

Synonyms

2310004I03Rik, 4932434F09Rik

MMRRC Submission

041811-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65032414-65082651 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65075803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 739 (D739G)

Ref Sequence

ENSEMBL: ENSMUSP00000126065 (fasta)

Gene Model

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

AlphaFold

Q80YA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034960
AA Change: D739G

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

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: D739G

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: D739G

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

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: D739G

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

noncoding transcript
Transcript: ENSMUST00000214247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217328

Predicted Effect

probably benign
Transcript: ENSMUST00000217434

Meta Mutation Damage Score

0.9721

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4921536K21Rik	A	G	11: 3,890,052	I115T	probably benign	Het
Acads	A	T	5: 115,113,064	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139	C118S	probably benign	Het
Alpk2	T	C	18: 65,289,748	T1493A	probably damaging	Het
AU018091	A	G	7: 3,158,428	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,198,922	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986	N368S	probably benign	Het
Cenpp	A	T	13: 49,641,234	F152L	probably benign	Het
Cfap46	T	A	7: 139,652,404	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,721,229	V212A	probably damaging	Het
Col9a2	A	T	4: 121,045,155	K196N	probably benign	Het
Copg2	T	C	6: 30,749,450	D814G	probably damaging	Het
Dcaf13	G	A	15: 39,118,893	G85R	probably damaging	Het
Dnah9	A	G	11: 66,168,152	S106P	probably benign	Het
Drd2	T	A	9: 49,404,789	M283K	probably benign	Het
Espl1	A	G	15: 102,298,724	T208A	probably benign	Het
Glul	G	A	1: 153,903,050	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,315,212	K297E	unknown	Het
Gm21976	A	T	13: 98,305,810	R120W	probably damaging	Het
Hipk3	T	A	2: 104,441,277	T437S	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Lipn	T	G	19: 34,081,350	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,123,956	V484A	probably benign	Het
Madd	T	C	2: 91,167,664	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,147,764	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,865,807	T299A	possibly damaging	Het
Micu3	T	C	8: 40,359,397		probably benign	Het
Mmp7	T	C	9: 7,697,666	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Olfr1234	C	T	2: 89,363,325	V35M	probably damaging	Het
Olfr1307	T	C	2: 111,944,652	D268G	possibly damaging	Het
Olfr622	A	G	7: 103,640,101	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,514,515	D232E	probably damaging	Het
Pebp1	G	T	5: 117,283,410	D156E	probably benign	Het
Pik3cb	A	G	9: 99,055,406	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,542,020	L170P	probably damaging	Het
Ptch1	T	C	13: 63,543,608	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,154,575	M394K	probably damaging	Het
Rhoq	T	C	17: 86,964,326	Y57H	probably benign	Het
Setbp1	T	C	18: 78,857,516	I979V	probably benign	Het
Slc6a4	A	G	11: 77,019,863	I447V	probably benign	Het
Sos2	T	C	12: 69,616,889	K607R	probably damaging	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Syne2	A	T	12: 75,967,071	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,500,442	F9I	possibly damaging	Het
Tex35	T	A	1: 157,099,339	Y195F	probably benign	Het
Tnc	T	C	4: 63,995,745	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,729,943	Y153*	probably null	Het
Trim5	C	A	7: 104,265,432	V477F	probably damaging	Het
Trp73	A	G	4: 154,064,417	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,832,080	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,958,988	D165G	probably 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
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
R8516:Dpp8	UTSW	9	65078009	missense	probably damaging	1.00
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
R9463:Dpp8	UTSW	9	65066418	nonsense	probably null
R9518:Dpp8	UTSW	9	65074584	missense	possibly damaging	0.90
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'- TCTGAAAAGAGAAACTCTCCAGG -3'
(R):5'- CTTCCAGGTGTCTTCGATGAACAG -3'

Sequencing Primer
(F):5'- AAGAGAAACTCTCCAGGAATTTTTAG -3'
(R):5'- CCAGGTGTCTTCGATGAACAGAATTC -3'

Posted On

2015-09-25