Mutagenetix > Incidental Mutation

Incidental Mutation 'R4238:Dpp8'

321221

Institutional Source

Beutler Lab

Gene Symbol

Dpp8

Ensembl Gene

ENSMUSG00000032393

Gene Name

dipeptidylpeptidase 8

Synonyms

2310004I03Rik, 4932434F09Rik

MMRRC Submission

041055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64939696-64989933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64962205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 415 (D415G)

Ref Sequence

ENSEMBL: ENSMUSP00000126065 (fasta)

Gene Model

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

AlphaFold

Q80YA7

Predicted Effect

probably benign
Transcript: ENSMUST00000034960
AA Change: D415G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: D415G

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 benign
Transcript: ENSMUST00000167773
AA Change: D415G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: D415G

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: ENSMUST00000214559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216309

Predicted Effect

probably benign
Transcript: ENSMUST00000217434

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,603,478 (GRCm39)	P93S	probably benign	Het
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
Aar2	A	G	2: 156,393,064 (GRCm39)	E151G	possibly damaging	Het
Cacna2d4	A	G	6: 119,217,669 (GRCm39)	D125G	probably null	Het
Cdc20	C	T	4: 118,290,257 (GRCm39)	R468Q	probably damaging	Het
Cers3	T	C	7: 66,423,424 (GRCm39)	F87S	probably damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Cndp1	G	T	18: 84,636,342 (GRCm39)	H391N	probably benign	Het
Cpz	T	C	5: 35,659,818 (GRCm39)	D609G	probably benign	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fam186a	T	C	15: 99,841,523 (GRCm39)	I1574V	probably benign	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Gpr158	G	T	2: 21,373,362 (GRCm39)	C99F	probably damaging	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Igkv12-44	A	G	6: 69,791,868 (GRCm39)	S32P	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Lin54	G	A	5: 100,623,603 (GRCm39)	S78L	possibly damaging	Het
Lzts1	G	T	8: 69,588,579 (GRCm39)	A459E	possibly damaging	Het
Mlf1	G	A	3: 67,291,910 (GRCm39)	S25N	probably benign	Het
Mrgprx2	C	A	7: 48,132,738 (GRCm39)	V27L	probably benign	Het
Myof	T	A	19: 37,911,456 (GRCm39)	R1505*	probably null	Het
Or4k15	T	C	14: 50,364,889 (GRCm39)	V285A	probably benign	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,434 (GRCm39)	V111D	probably damaging	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Simc1	C	G	13: 54,674,073 (GRCm39)	S807*	probably null	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Snrpa	A	T	7: 26,892,293 (GRCm39)		probably null	Het
Sval2	T	A	6: 41,837,283 (GRCm39)	L4H	probably damaging	Het
Tax1bp1	C	T	6: 52,743,036 (GRCm39)	Q808*	probably null	Het
Tnfrsf11a	T	C	1: 105,754,962 (GRCm39)	Y345H	probably damaging	Het
Trpa1	A	G	1: 14,954,340 (GRCm39)	L853P	probably damaging	Het
Trpm3	A	G	19: 22,956,002 (GRCm39)	R1155G	probably damaging	Het
Ube4a	T	C	9: 44,851,297 (GRCm39)	E739G	probably damaging	Het
Zfp433	A	C	10: 81,556,046 (GRCm39)	T182P	probably damaging	Het

Other mutations in Dpp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Dpp8	APN	9	64,985,290 (GRCm39)	missense	probably damaging	1.00
IGL00576:Dpp8	APN	9	64,951,111 (GRCm39)	missense	probably benign	0.32
IGL01303:Dpp8	APN	9	64,962,294 (GRCm39)	splice site	probably benign
IGL01506:Dpp8	APN	9	64,970,699 (GRCm39)	splice site	probably benign
IGL01544:Dpp8	APN	9	64,962,270 (GRCm39)	missense	probably benign	0.05
IGL02387:Dpp8	APN	9	64,952,998 (GRCm39)	missense	probably damaging	1.00
IGL02567:Dpp8	APN	9	64,986,058 (GRCm39)	nonsense	probably null
IGL02611:Dpp8	APN	9	64,963,075 (GRCm39)	missense	probably benign	0.15
IGL02723:Dpp8	APN	9	64,949,549 (GRCm39)	missense	possibly damaging	0.91
IGL02927:Dpp8	APN	9	64,967,551 (GRCm39)	missense	probably benign	0.09
IGL03116:Dpp8	APN	9	64,973,749 (GRCm39)	missense	probably damaging	0.96
IGL03135:Dpp8	APN	9	64,960,322 (GRCm39)	splice site	probably null
IGL03356:Dpp8	APN	9	64,953,069 (GRCm39)	missense	probably benign	0.00
almaviva	UTSW	9	64,983,085 (GRCm39)	missense	probably damaging	1.00
bartolo	UTSW	9	64,986,000 (GRCm39)	missense	probably damaging	1.00
Cherubino	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
rosina	UTSW	9	64,983,066 (GRCm39)	missense	possibly damaging	0.88
IGL03050:Dpp8	UTSW	9	64,962,118 (GRCm39)	missense	probably benign	0.00
R0498:Dpp8	UTSW	9	64,953,077 (GRCm39)	splice site	probably benign
R0594:Dpp8	UTSW	9	64,944,280 (GRCm39)	missense	probably damaging	1.00
R0675:Dpp8	UTSW	9	64,973,784 (GRCm39)	splice site	probably benign
R0699:Dpp8	UTSW	9	64,962,176 (GRCm39)	missense	probably benign	0.01
R0831:Dpp8	UTSW	9	64,985,961 (GRCm39)	missense	possibly damaging	0.56
R1148:Dpp8	UTSW	9	64,961,114 (GRCm39)	critical splice donor site	probably null
R1148:Dpp8	UTSW	9	64,961,114 (GRCm39)	critical splice donor site	probably null
R1512:Dpp8	UTSW	9	64,971,096 (GRCm39)	splice site	probably benign
R1515:Dpp8	UTSW	9	64,986,030 (GRCm39)	missense	probably benign	0.04
R1546:Dpp8	UTSW	9	64,970,775 (GRCm39)	missense	possibly damaging	0.76
R1556:Dpp8	UTSW	9	64,958,761 (GRCm39)	missense	probably damaging	1.00
R2027:Dpp8	UTSW	9	64,986,056 (GRCm39)	missense	probably damaging	1.00
R2104:Dpp8	UTSW	9	64,981,849 (GRCm39)	splice site	probably null
R2113:Dpp8	UTSW	9	64,971,150 (GRCm39)	missense	probably benign	0.00
R2656:Dpp8	UTSW	9	64,988,086 (GRCm39)	missense	probably damaging	1.00
R4237:Dpp8	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
R4239:Dpp8	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
R4595:Dpp8	UTSW	9	64,983,085 (GRCm39)	missense	probably damaging	1.00
R4614:Dpp8	UTSW	9	64,973,678 (GRCm39)	missense	probably benign	0.00
R4946:Dpp8	UTSW	9	64,963,200 (GRCm39)	missense	probably benign	0.00
R5338:Dpp8	UTSW	9	64,971,206 (GRCm39)	nonsense	probably null
R5378:Dpp8	UTSW	9	64,985,296 (GRCm39)	missense	probably damaging	1.00
R5506:Dpp8	UTSW	9	64,985,391 (GRCm39)	splice site	probably null
R5644:Dpp8	UTSW	9	64,953,017 (GRCm39)	nonsense	probably null
R5862:Dpp8	UTSW	9	64,953,004 (GRCm39)	missense	probably benign	0.03
R6437:Dpp8	UTSW	9	64,981,860 (GRCm39)	missense	probably benign	0.01
R6783:Dpp8	UTSW	9	64,970,844 (GRCm39)	missense	possibly damaging	0.76
R6863:Dpp8	UTSW	9	64,942,290 (GRCm39)	missense	probably damaging	0.98
R7192:Dpp8	UTSW	9	64,953,068 (GRCm39)	missense	possibly damaging	0.70
R7461:Dpp8	UTSW	9	64,960,402 (GRCm39)	missense	possibly damaging	0.86
R7514:Dpp8	UTSW	9	64,986,036 (GRCm39)	missense	probably damaging	1.00
R7548:Dpp8	UTSW	9	64,944,517 (GRCm39)	missense	probably damaging	1.00
R7584:Dpp8	UTSW	9	64,986,064 (GRCm39)	missense	probably damaging	0.98
R7605:Dpp8	UTSW	9	64,962,240 (GRCm39)	missense	probably benign	0.33
R7613:Dpp8	UTSW	9	64,960,402 (GRCm39)	missense	possibly damaging	0.86
R7665:Dpp8	UTSW	9	64,986,000 (GRCm39)	missense	probably damaging	1.00
R7698:Dpp8	UTSW	9	64,949,618 (GRCm39)	missense	probably benign	0.00
R7844:Dpp8	UTSW	9	64,952,949 (GRCm39)	missense	probably damaging	0.99
R7935:Dpp8	UTSW	9	64,944,262 (GRCm39)	missense	possibly damaging	0.82
R8079:Dpp8	UTSW	9	64,951,017 (GRCm39)	missense	probably damaging	1.00
R8121:Dpp8	UTSW	9	64,985,362 (GRCm39)	missense	probably benign	0.10
R8315:Dpp8	UTSW	9	64,988,133 (GRCm39)	makesense	probably null
R8419:Dpp8	UTSW	9	64,988,037 (GRCm39)	missense	probably benign	0.34
R8516:Dpp8	UTSW	9	64,985,291 (GRCm39)	missense	probably damaging	1.00
R8524:Dpp8	UTSW	9	64,950,989 (GRCm39)	missense	probably damaging	1.00
R8896:Dpp8	UTSW	9	64,985,318 (GRCm39)	missense	possibly damaging	0.88
R8922:Dpp8	UTSW	9	64,981,793 (GRCm39)	missense	probably benign	0.02
R8935:Dpp8	UTSW	9	64,983,066 (GRCm39)	missense	possibly damaging	0.88
R9463:Dpp8	UTSW	9	64,973,700 (GRCm39)	nonsense	probably null
R9518:Dpp8	UTSW	9	64,981,866 (GRCm39)	missense	possibly damaging	0.90
R9732:Dpp8	UTSW	9	64,970,862 (GRCm39)	critical splice donor site	probably null
R9751:Dpp8	UTSW	9	64,960,453 (GRCm39)	missense	probably null	0.65
Z1177:Dpp8	UTSW	9	64,973,767 (GRCm39)	missense	probably damaging	1.00
Z1177:Dpp8	UTSW	9	64,971,148 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCCTGAACTCAGTGAATGC -3'
(R):5'- GTTCACAGCTCCCTTAAACTTAAG -3'

Sequencing Primer
(F):5'- GCACAGATTTGTAAGCATAAACATGC -3'
(R):5'- GGATGCCTTTTGCTATAGAATTCC -3'

Posted On

2015-06-12