Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Dpp10'

461087

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123321471-124045559 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123384289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 446 (Y446D)

Ref Sequence

ENSEMBL: ENSMUSP00000108222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112603] [ENSMUST00000112606]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112603
AA Change: Y446D

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

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: Y446D

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
Pfam:DPPIV_N	83	450	4.9e-118	PFAM
Pfam:Peptidase_S9	530	734	6.4e-47	PFAM
Pfam:DLH	556	711	1.4e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112606
AA Change: Y457D

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

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: Y457D

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	64	79	N/A	INTRINSIC
Pfam:DPPIV_N	137	504	4.4e-115	PFAM
Pfam:Peptidase_S9	584	788	8.6e-48	PFAM
Pfam:DLH	604	774	1.1e-7	PFAM

Meta Mutation Damage Score

0.8873

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,889,705		probably null	Het
Arhgef19	A	T	4: 141,249,298	H457L	probably benign	Het
Armc3	A	G	2: 19,310,047	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,051,104	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,665,193	M366R	possibly damaging	Het
Bora	C	T	14: 99,068,512	S439L	probably benign	Het
Cacnb4	G	A	2: 52,434,784		probably benign	Het
Carm1	T	C	9: 21,587,552	S529P	probably benign	Het
Cd200r1	A	G	16: 44,789,671	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,748,742	S22P	probably benign	Het
Celf2	A	T	2: 7,081,158	M1K	probably null	Het
Cep112	A	G	11: 108,757,688	T783A	probably damaging	Het
Cep95	T	C	11: 106,818,509		probably benign	Het
Clip4	G	A	17: 71,824,765	R366K	probably benign	Het
Csmd2	A	G	4: 128,551,988	K3284E	probably benign	Het
Csn3	T	A	5: 87,927,611	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,988,865	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,402,246	W55*	probably null	Het
Cyp2u1	G	A	3: 131,303,211		probably benign	Het
Dmgdh	A	T	13: 93,752,323	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,448,430	I3078V	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035	W224*	probably null	Het
Gm37240	T	C	3: 84,967,598		probably benign	Het
Gm9573	C	T	17: 35,623,231		probably benign	Het
Gpr3	A	G	4: 133,211,178	V61A	probably damaging	Het
Gulo	T	C	14: 66,000,021		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hectd4	T	A	5: 121,323,974	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,764,868	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,705,269	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,705,270	Q339L	probably damaging	Het
Irf4	T	A	13: 30,757,758	S365T	probably benign	Het
Klrb1a	T	G	6: 128,618,509	D124A	probably damaging	Het
Macf1	A	T	4: 123,476,039	I78N	probably damaging	Het
Mctp1	G	T	13: 76,759,825		probably null	Het
Mxra8	A	T	4: 155,843,303		probably null	Het
Nlrp2	T	A	7: 5,324,903		probably null	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
P2ry13	T	C	3: 59,209,365	T331A	probably benign	Het
Padi2	G	A	4: 140,917,641	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,474,654	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,755,992	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,758,089	R717G	probably benign	Het
Pcif1	C	A	2: 164,884,492		probably benign	Het
Pkd1l1	T	C	11: 8,863,849	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,364,602	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,222,695	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,690,302	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,526,271	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 71,584,263	P381L	probably benign	Het
Slc8a1	T	A	17: 81,648,002	I536F	probably damaging	Het
Src	T	A	2: 157,466,030		probably null	Het
Sybu	T	A	15: 44,787,621	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,351,728	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,628,411	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,819,128	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,006,988	L49Q	probably damaging	Het
Trem2	T	A	17: 48,346,633		probably benign	Het
Tspyl3	T	A	2: 153,224,716	M201L	probably benign	Het
Ttl	A	G	2: 129,076,041	D141G	probably benign	Het
Ube2z	A	G	11: 96,061,063	V153A	possibly damaging	Het
Ubr3	A	G	2: 70,021,215	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,380,592	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,951,890	R847C	probably damaging	Het
Vmo1	A	T	11: 70,514,415	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,800,007	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765	S425R	possibly damaging	Het

Other mutations in Dpp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Dpp10	APN	1	123334370	missense	probably damaging	1.00
IGL01618:Dpp10	APN	1	123367867	missense	probably benign
IGL02101:Dpp10	APN	1	123411826	missense	probably damaging	1.00
IGL02284:Dpp10	APN	1	124045366	splice site	probably benign
IGL02324:Dpp10	APN	1	123367802	missense	probably benign	0.02
IGL02391:Dpp10	APN	1	123650358	missense	probably damaging	0.98
IGL02458:Dpp10	APN	1	123341689	missense	probably benign	0.01
IGL02469:Dpp10	APN	1	123411803	missense	probably benign	0.01
IGL02501:Dpp10	APN	1	123686270	missense	possibly damaging	0.93
IGL02522:Dpp10	APN	1	123423652	missense	probably benign	0.24
IGL02672:Dpp10	APN	1	123376647	missense	probably benign	0.45
IGL03034:Dpp10	APN	1	123341619	missense	probably damaging	1.00
PIT1430001:Dpp10	UTSW	1	123341182	splice site	probably benign
R0104:Dpp10	UTSW	1	123367843	missense	probably benign	0.00
R0114:Dpp10	UTSW	1	123486092	missense	probably benign	0.07
R0242:Dpp10	UTSW	1	123398546	missense	possibly damaging	0.56
R0242:Dpp10	UTSW	1	123398546	missense	possibly damaging	0.56
R0682:Dpp10	UTSW	1	123905125	missense	probably damaging	0.98
R0815:Dpp10	UTSW	1	123432929	critical splice donor site	probably null
R1549:Dpp10	UTSW	1	123341380	critical splice acceptor site	probably null
R1742:Dpp10	UTSW	1	123445206	missense	probably damaging	1.00
R1859:Dpp10	UTSW	1	123353604	missense	possibly damaging	0.47
R1991:Dpp10	UTSW	1	123905106	missense	probably null	1.00
R1992:Dpp10	UTSW	1	123905106	missense	probably null	1.00
R2079:Dpp10	UTSW	1	123432992	missense	probably damaging	1.00
R2882:Dpp10	UTSW	1	123445203	missense	probably damaging	1.00
R2974:Dpp10	UTSW	1	123411705	splice site	probably benign
R3827:Dpp10	UTSW	1	123411790	missense	possibly damaging	0.56
R3852:Dpp10	UTSW	1	123485924	nonsense	probably null
R3876:Dpp10	UTSW	1	123353487	missense	probably damaging	0.98
R3899:Dpp10	UTSW	1	123353557	missense	probably damaging	1.00
R4735:Dpp10	UTSW	1	123398627	missense	probably benign	0.15
R4922:Dpp10	UTSW	1	123378153	missense	probably benign	0.44
R5457:Dpp10	UTSW	1	123411810	missense	possibly damaging	0.51
R5599:Dpp10	UTSW	1	123905076	missense	probably damaging	0.99
R5979:Dpp10	UTSW	1	123384283	critical splice donor site	probably null
R6378:Dpp10	UTSW	1	123411739	missense	probably damaging	1.00
R6429:Dpp10	UTSW	1	123367601	missense	possibly damaging	0.72
R6505:Dpp10	UTSW	1	123336851	missense	probably damaging	0.99
R6776:Dpp10	UTSW	1	123367656	nonsense	probably null
R6894:Dpp10	UTSW	1	123336864	missense	probably damaging	1.00
R6951:Dpp10	UTSW	1	123341650	missense	possibly damaging	0.93
R7182:Dpp10	UTSW	1	123341151	missense	probably benign	0.15
R7246:Dpp10	UTSW	1	123334377	missense	probably damaging	1.00
R7297:Dpp10	UTSW	1	123353428	nonsense	probably null
R7375:Dpp10	UTSW	1	123367795	missense	probably benign
R7387:Dpp10	UTSW	1	123341140	missense	probably benign	0.01
R7661:Dpp10	UTSW	1	123384952	missense	probably damaging	1.00
R8065:Dpp10	UTSW	1	123352660	missense	probably benign
R8067:Dpp10	UTSW	1	123352660	missense	probably benign
R8260:Dpp10	UTSW	1	123686295	missense	probably benign
R8324:Dpp10	UTSW	1	123854172	missense	probably benign	0.02
R8373:Dpp10	UTSW	1	123854229	missense	possibly damaging	0.94
R8434:Dpp10	UTSW	1	123433010	missense	probably damaging	1.00
R9068:Dpp10	UTSW	1	123432938	missense	probably damaging	1.00
R9104:Dpp10	UTSW	1	123411755	missense	probably damaging	1.00
R9477:Dpp10	UTSW	1	123376641	missense	possibly damaging	0.46
R9492:Dpp10	UTSW	1	123353430	missense	probably damaging	1.00
R9524:Dpp10	UTSW	1	123336882	missense	probably damaging	1.00
R9576:Dpp10	UTSW	1	123341680	missense	probably damaging	1.00
R9631:Dpp10	UTSW	1	123341703	missense	probably damaging	1.00
R9736:Dpp10	UTSW	1	123334359	missense	possibly damaging	0.64
X0019:Dpp10	UTSW	1	123398585	missense	possibly damaging	0.88
X0020:Dpp10	UTSW	1	123398582	missense	probably benign	0.36
X0021:Dpp10	UTSW	1	123432992	missense	probably damaging	1.00
X0024:Dpp10	UTSW	1	123384286	missense	probably damaging	1.00
Z1176:Dpp10	UTSW	1	123353440	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGACCTTTGGGATAGCATTGAAAATG -3'
(R):5'- GCAGGCTGGTTATTTTACAAACAAGAC -3'

Sequencing Primer
(F):5'- GGATAGCATTGAAAATGTAAATGAGG -3'
(R):5'- AGACAGATGCATTCCCTGAATAC -3'

Posted On

2017-02-28