Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Dpp10'

689343

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123321471-124045559 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123432938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 286 (Y286C)

Ref Sequence

ENSEMBL: ENSMUSP00000108225 (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: Y275C

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

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: Y275C

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: Y286C

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

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: Y286C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,829	I770V	probably benign	Het
Actr10	T	C	12: 70,942,299	L64S	probably damaging	Het
Adam22	T	C	5: 8,127,343	T589A	probably benign	Het
Akr1b7	T	C	6: 34,419,042	S160P	probably damaging	Het
Ankrd52	C	T	10: 128,381,981	H277Y	probably damaging	Het
Btbd11	C	A	10: 85,387,898	N190K	unknown	Het
Cc2d1b	T	A	4: 108,624,865	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,953,387		probably benign	Het
Clec3a	A	G	8: 114,425,635	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,512,881	L324P	probably damaging	Het
Cspp1	T	C	1: 10,077,244		probably null	Het
Cwf19l1	C	T	19: 44,135,835		probably benign	Het
Cyp26b1	G	A	6: 84,574,397	T470I	probably damaging	Het
Dedd2	A	G	7: 25,217,667	V110A	probably benign	Het
Dnah8	A	G	17: 30,756,755	I2866M	possibly damaging	Het
Efna2	C	T	10: 80,188,690	P177L	probably damaging	Het
Fbxo46	A	G	7: 19,135,400		probably benign	Het
Gdpd5	A	T	7: 99,458,841	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,001,425	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,148,246	E157*	probably null	Het
Grk4	T	C	5: 34,748,309	I466T		Het
Hic1	A	G	11: 75,169,506	M5T	unknown	Het
Hmcn2	C	A	2: 31,413,673	N3058K	probably benign	Het
Htr5a	T	A	5: 27,850,801	H263Q	probably benign	Het
Lrrc7	T	C	3: 158,240,501	K187R	probably benign	Het
Map3k8	A	T	18: 4,340,557	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,754,076		probably benign	Het
Naa16	A	T	14: 79,374,849	M233K	probably benign	Het
Napsa	A	T	7: 44,585,799	D336V	probably damaging	Het
Neurod1	T	A	2: 79,454,874	N55I	possibly damaging	Het
Olfr1220	A	T	2: 89,097,025	C301S	probably benign	Het
Olfr1431	T	C	19: 12,210,339	F258L	probably damaging	Het
Olfr874	T	A	9: 37,746,667	C178S	probably damaging	Het
Olfr975	A	T	9: 39,950,791		probably benign	Het
Pcdha8	G	T	18: 36,994,270	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Pigr	G	A	1: 130,846,494	V404M	probably damaging	Het
Plch1	G	A	3: 63,704,615	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,209,396	F583L	probably benign	Het
Rit2	A	T	18: 30,975,415	D172E	possibly damaging	Het
Skint4	C	T	4: 112,165,735	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,670,964	V353A	probably benign	Het
Slit3	A	G	11: 35,684,090	D1077G	probably damaging	Het
Sun2	A	G	15: 79,728,051	F478L	probably benign	Het
Syt6	C	A	3: 103,587,509	C263*	probably null	Het
Tfpi	C	A	2: 84,442,891	L229F	unknown	Het
Tmem131l	A	T	3: 83,910,468	C1242S	probably benign	Het
Ttc3	T	A	16: 94,403,360	W280R	probably damaging	Het
Uncx	A	G	5: 139,546,818	K213E	possibly damaging	Het
Usp24	T	C	4: 106,375,678	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,893,979	I151F	probably damaging	Het
Vmn2r50	G	T	7: 10,038,134	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,648,829		probably benign	Het
Wdfy3	A	T	5: 101,852,585	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,200,945	M655V	probably benign	Het
Zc3h3	C	T	15: 75,839,650	A321T	probably benign	Het
Zeb2	T	A	2: 45,110,028	R65W	possibly damaging	Het
Zfp541	A	G	7: 16,078,451	E343G	probably damaging	Het
Zfp775	C	A	6: 48,620,217	R342S	probably damaging	Het
Zwilch	A	G	9: 64,168,660	F27L	probably benign	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
R5913:Dpp10	UTSW	1	123384289	missense	probably damaging	1.00
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
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'- ACGTAAGCCAGTGAATGAGC -3'
(R):5'- GCCCACATCTCTACAGTTGATG -3'

Sequencing Primer
(F):5'- TTCCAGTACCAGGGTTACAAGTCAG -3'
(R):5'- ATGGAGAGAGACTTGCCT -3'

Posted On

2021-11-19