Mutagenetix > Incidental Mutation

Incidental Mutation 'R8524:Dpp8'

658719

Institutional Source

Beutler Lab

Gene Symbol

Dpp8

Ensembl Gene

ENSMUSG00000032393

Gene Name

dipeptidylpeptidase 8

Synonyms

2310004I03Rik, 4932434F09Rik

MMRRC Submission

067949-MU

Accession Numbers

Essential gene?

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

Stock #

R8524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64939696-64989933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64950989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 142 (Y142H)

Ref Sequence

ENSEMBL: ENSMUSP00000150334 (fasta)

Gene Model

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

AlphaFold

Q80YA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034960
AA Change: Y142H

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: Y142H

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

possibly damaging
Transcript: ENSMUST00000167773
AA Change: Y142H

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: Y142H

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: Y142H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (41/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc65	A	T	15: 98,606,990 (GRCm39)	T66S	probably benign	Het
Cers1	G	A	8: 70,783,898 (GRCm39)	G282D	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col25a1	C	A	3: 130,342,873 (GRCm39)	P350H	probably damaging	Het
Coq5	T	C	5: 115,422,612 (GRCm39)	I172T	probably damaging	Het
Dand5	A	T	8: 85,549,056 (GRCm39)	L85*	probably null	Het
Dnah8	T	A	17: 30,934,472 (GRCm39)	W1486R	possibly damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gng7	T	A	10: 80,787,537 (GRCm39)	H42L	possibly damaging	Het
Gps2	T	C	11: 69,805,832 (GRCm39)	V93A	probably damaging	Het
Hspa9	T	C	18: 35,087,297 (GRCm39)	S3G	unknown	Het
Impg2	A	G	16: 56,038,757 (GRCm39)	N132D	probably benign	Het
Jak2	A	T	19: 29,273,105 (GRCm39)	N643I	probably damaging	Het
Kcng2	T	C	18: 80,338,896 (GRCm39)	D464G	probably benign	Het
Kdm4b	T	A	17: 56,706,384 (GRCm39)	C833S	probably damaging	Het
Ly86	G	A	13: 37,560,869 (GRCm39)	D77N	probably damaging	Het
Map7	G	A	10: 20,142,569 (GRCm39)	A330T	probably benign	Het
Mettl1	T	C	10: 126,877,908 (GRCm39)	S21P	probably damaging	Het
Mga	A	G	2: 119,771,997 (GRCm39)	Y1540C	probably damaging	Het
Mpp4	A	G	1: 59,183,840 (GRCm39)	L300P	probably damaging	Het
Mycbp2	A	G	14: 103,392,895 (GRCm39)	M3222T	probably benign	Het
Nat8f6	A	G	6: 85,785,541 (GRCm39)	Y203H	probably benign	Het
Nod1	C	T	6: 54,925,060 (GRCm39)	E84K	probably damaging	Het
Or10v9	A	G	19: 11,832,445 (GRCm39)	Y291H	probably damaging	Het
Or2b28	T	C	13: 21,531,248 (GRCm39)	V50A	probably benign	Het
Or8k28	T	C	2: 86,285,961 (GRCm39)	Y218C	probably damaging	Het
Padi2	A	G	4: 140,677,006 (GRCm39)	N598S	possibly damaging	Het
Pclo	C	T	5: 14,729,521 (GRCm39)		probably benign	Het
Pdik1l	T	G	4: 134,013,921 (GRCm39)	E12D	probably benign	Het
Plcg1	G	A	2: 160,603,387 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,797,638 (GRCm39)	H172R	possibly damaging	Het
Rnf41	C	G	10: 128,271,299 (GRCm39)	R70G	possibly damaging	Het
Rsbn1	A	T	3: 103,835,687 (GRCm39)	K203*	probably null	Het
Setbp1	T	C	18: 78,901,969 (GRCm39)	D566G	probably damaging	Het
Slc7a14	A	C	3: 31,278,282 (GRCm39)	V441G	possibly damaging	Het
Sorl1	T	A	9: 41,885,370 (GRCm39)	N2077I	probably damaging	Het
Spryd3	G	A	15: 102,026,583 (GRCm39)	R363*	probably null	Het
St6galnac1	G	T	11: 116,658,547 (GRCm39)	R306S	possibly damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Trim35	C	T	14: 66,544,493 (GRCm39)	R276C	probably damaging	Het
Trim55	A	T	3: 19,725,113 (GRCm39)	D210V	probably benign	Het
Tsg101	A	T	7: 46,542,115 (GRCm39)	D279E	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
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
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
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'- CAACTACTGAGGTGATGGGC -3'
(R):5'- GGTACAAATTCTCTTTAGGCTCTC -3'

Sequencing Primer
(F):5'- TGTAGACCAGGCTGGCTTCTAAC -3'
(R):5'- CTCTTTAGGCTCTCAAAACAGTTAAC -3'

Posted On

2021-01-18