Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02387:Dpp8'

291590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpp8

Ensembl Gene

ENSMUSG00000032393

Gene Name

dipeptidylpeptidase 8

Synonyms

2310004I03Rik, 4932434F09Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02387

Quality Score

Status

Chromosome

Chromosomal Location

64939696-64989933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64952998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 225 (I225F)

Ref Sequence

ENSEMBL: ENSMUSP00000150334 (fasta)

Gene Model

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

AlphaFold

Q80YA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034960
AA Change: I225F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: I225F

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: I225F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: I225F

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 damaging
Transcript: ENSMUST00000217434
AA Change: I225F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acap3	T	G	4: 155,986,617 (GRCm39)	L311R	probably damaging	Het
Actr6	T	A	10: 89,550,846 (GRCm39)	N316I	probably damaging	Het
Adarb2	T	A	13: 8,619,994 (GRCm39)	V160E	probably damaging	Het
Atm	A	T	9: 53,391,066 (GRCm39)		probably null	Het
Atp2b4	T	C	1: 133,659,627 (GRCm39)	N445S	probably damaging	Het
Clic6	A	G	16: 92,326,807 (GRCm39)	D464G	probably damaging	Het
Clk2	C	T	3: 89,083,698 (GRCm39)		probably benign	Het
Cyp4f40	A	C	17: 32,886,984 (GRCm39)	T152P	probably damaging	Het
Dspp	A	G	5: 104,323,490 (GRCm39)	Q211R	possibly damaging	Het
Gja1	T	A	10: 56,263,902 (GRCm39)	V87E	possibly damaging	Het
Gm8165	T	C	14: 43,913,696 (GRCm39)	E56G	possibly damaging	Het
Gstp2	T	A	19: 4,091,094 (GRCm39)		probably benign	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Insrr	G	A	3: 87,720,434 (GRCm39)	R1024H	probably damaging	Het
Iqgap2	A	G	13: 95,826,209 (GRCm39)	W538R	probably benign	Het
Lrrc71	T	C	3: 87,650,378 (GRCm39)	I232V	probably damaging	Het
Mphosph8	T	A	14: 56,933,178 (GRCm39)	N808K	probably damaging	Het
Or8h10	T	A	2: 86,808,193 (GRCm39)	R316*	probably null	Het
Pak6	T	C	2: 118,523,714 (GRCm39)	S290P	probably benign	Het
Ptpro	C	T	6: 137,387,978 (GRCm39)	A734V	probably damaging	Het
Reg1	A	T	6: 78,404,321 (GRCm39)	N65I	probably damaging	Het
Rnf17	T	G	14: 56,738,044 (GRCm39)	I1275S	probably damaging	Het
Sfrp5	C	T	19: 42,187,468 (GRCm39)	V201I	probably benign	Het
Sgsm1	T	A	5: 113,400,929 (GRCm39)	H987L	possibly damaging	Het
Shank1	A	T	7: 44,006,361 (GRCm39)	Y2026F	possibly damaging	Het
Slc15a2	T	C	16: 36,572,137 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Taar8a	T	A	10: 23,953,260 (GRCm39)	I288N	possibly damaging	Het
Tpbpb	T	G	13: 61,049,668 (GRCm39)	*121C	probably null	Het
Trim29	A	T	9: 43,236,149 (GRCm39)	N460I	probably benign	Het
Trp53tg5	T	A	2: 164,313,376 (GRCm39)	I100F	possibly damaging	Het
Ubr2	T	C	17: 47,274,076 (GRCm39)	T871A	probably benign	Het
Vrk1	A	G	12: 106,036,803 (GRCm39)	E363G	probably damaging	Het
Zfyve19	C	T	2: 119,046,907 (GRCm39)		probably benign	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
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
R4238: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

Posted On

2015-04-16