Mutagenetix > Incidental Mutation

Incidental Mutation 'R2882:Dpp10'

260336

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

040470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2882 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123259871-124773774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123372932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 236 (E236G)

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: E225G

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

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: E225G

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: E236G

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

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: E236G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9a	T	C	2: 168,548,134 (GRCm39)	Y7C	probably damaging	Het
Atxn3	C	A	12: 101,903,670 (GRCm39)	L178F	probably damaging	Het
Cep112	T	C	11: 108,410,038 (GRCm39)	S211P	possibly damaging	Het
Csl	A	G	10: 99,594,787 (GRCm39)	F93L	probably damaging	Het
Cyp4f40	A	G	17: 32,887,047 (GRCm39)	I173V	probably benign	Het
Dcaf17	A	G	2: 70,912,371 (GRCm39)	I319V	possibly damaging	Het
Dock5	T	C	14: 68,077,069 (GRCm39)	Y258C	probably damaging	Het
Dpyd	A	G	3: 118,858,679 (GRCm39)	D631G	probably damaging	Het
Ewsr1	C	A	11: 5,028,523 (GRCm39)		probably benign	Het
Fat2	C	A	11: 55,202,131 (GRCm39)	L314F	probably damaging	Het
Gsdmc	T	C	15: 63,651,644 (GRCm39)	I259V	probably benign	Het
Hydin	C	T	8: 111,293,555 (GRCm39)	L3501F	possibly damaging	Het
Kdm2a	A	G	19: 4,381,212 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,354,826 (GRCm39)		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Minar1	C	T	9: 89,484,855 (GRCm39)	V181I	possibly damaging	Het
Mlh3	A	T	12: 85,314,340 (GRCm39)	H615Q	probably damaging	Het
Mmp12	A	G	9: 7,358,236 (GRCm39)	Y374C	probably damaging	Het
Mpp2	T	C	11: 101,955,459 (GRCm39)	E97G	probably benign	Het
Oasl2	C	T	5: 115,049,084 (GRCm39)	R175C	probably damaging	Het
Or1j19	A	T	2: 36,677,202 (GRCm39)	I222F	probably damaging	Het
Pcdhac2	A	T	18: 37,278,865 (GRCm39)	Q615L	probably damaging	Het
Ppm1h	T	A	10: 122,777,239 (GRCm39)	Y502N	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Spata31d1e	C	A	13: 59,890,757 (GRCm39)	Q354H	probably benign	Het
Tex15	T	A	8: 34,064,935 (GRCm39)	L1455*	probably null	Het
Tgm6	T	C	2: 129,979,359 (GRCm39)	V163A	probably benign	Het
Tlr5	C	T	1: 182,801,458 (GRCm39)	T240M	probably damaging	Het
Washc4	T	C	10: 83,415,365 (GRCm39)	I785T	possibly damaging	Het

Other mutations in Dpp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Dpp10	APN	1	123,262,099 (GRCm39)	missense	probably damaging	1.00
IGL01618:Dpp10	APN	1	123,295,596 (GRCm39)	missense	probably benign
IGL02101:Dpp10	APN	1	123,339,555 (GRCm39)	missense	probably damaging	1.00
IGL02284:Dpp10	APN	1	123,973,103 (GRCm39)	splice site	probably benign
IGL02324:Dpp10	APN	1	123,295,531 (GRCm39)	missense	probably benign	0.02
IGL02391:Dpp10	APN	1	123,578,087 (GRCm39)	missense	probably damaging	0.98
IGL02458:Dpp10	APN	1	123,269,418 (GRCm39)	missense	probably benign	0.01
IGL02469:Dpp10	APN	1	123,339,532 (GRCm39)	missense	probably benign	0.01
IGL02501:Dpp10	APN	1	123,613,999 (GRCm39)	missense	possibly damaging	0.93
IGL02522:Dpp10	APN	1	123,351,381 (GRCm39)	missense	probably benign	0.24
IGL02672:Dpp10	APN	1	123,304,376 (GRCm39)	missense	probably benign	0.45
IGL03034:Dpp10	APN	1	123,269,348 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Dpp10	UTSW	1	123,268,911 (GRCm39)	splice site	probably benign
R0104:Dpp10	UTSW	1	123,295,572 (GRCm39)	missense	probably benign	0.00
R0114:Dpp10	UTSW	1	123,413,821 (GRCm39)	missense	probably benign	0.07
R0242:Dpp10	UTSW	1	123,326,275 (GRCm39)	missense	possibly damaging	0.56
R0242:Dpp10	UTSW	1	123,326,275 (GRCm39)	missense	possibly damaging	0.56
R0682:Dpp10	UTSW	1	123,832,852 (GRCm39)	missense	probably damaging	0.98
R0815:Dpp10	UTSW	1	123,360,658 (GRCm39)	critical splice donor site	probably null
R1549:Dpp10	UTSW	1	123,269,109 (GRCm39)	critical splice acceptor site	probably null
R1742:Dpp10	UTSW	1	123,372,935 (GRCm39)	missense	probably damaging	1.00
R1859:Dpp10	UTSW	1	123,281,333 (GRCm39)	missense	possibly damaging	0.47
R1991:Dpp10	UTSW	1	123,832,833 (GRCm39)	missense	probably null	1.00
R1992:Dpp10	UTSW	1	123,832,833 (GRCm39)	missense	probably null	1.00
R2079:Dpp10	UTSW	1	123,360,721 (GRCm39)	missense	probably damaging	1.00
R2974:Dpp10	UTSW	1	123,339,434 (GRCm39)	splice site	probably benign
R3827:Dpp10	UTSW	1	123,339,519 (GRCm39)	missense	possibly damaging	0.56
R3852:Dpp10	UTSW	1	123,413,653 (GRCm39)	nonsense	probably null
R3876:Dpp10	UTSW	1	123,281,216 (GRCm39)	missense	probably damaging	0.98
R3899:Dpp10	UTSW	1	123,281,286 (GRCm39)	missense	probably damaging	1.00
R4735:Dpp10	UTSW	1	123,326,356 (GRCm39)	missense	probably benign	0.15
R4922:Dpp10	UTSW	1	123,305,882 (GRCm39)	missense	probably benign	0.44
R5457:Dpp10	UTSW	1	123,339,539 (GRCm39)	missense	possibly damaging	0.51
R5599:Dpp10	UTSW	1	123,832,803 (GRCm39)	missense	probably damaging	0.99
R5913:Dpp10	UTSW	1	123,312,018 (GRCm39)	missense	probably damaging	1.00
R5979:Dpp10	UTSW	1	123,312,012 (GRCm39)	critical splice donor site	probably null
R6378:Dpp10	UTSW	1	123,339,468 (GRCm39)	missense	probably damaging	1.00
R6429:Dpp10	UTSW	1	123,295,330 (GRCm39)	missense	possibly damaging	0.72
R6505:Dpp10	UTSW	1	123,264,580 (GRCm39)	missense	probably damaging	0.99
R6776:Dpp10	UTSW	1	123,295,385 (GRCm39)	nonsense	probably null
R6894:Dpp10	UTSW	1	123,264,593 (GRCm39)	missense	probably damaging	1.00
R6951:Dpp10	UTSW	1	123,269,379 (GRCm39)	missense	possibly damaging	0.93
R7182:Dpp10	UTSW	1	123,268,880 (GRCm39)	missense	probably benign	0.15
R7246:Dpp10	UTSW	1	123,262,106 (GRCm39)	missense	probably damaging	1.00
R7297:Dpp10	UTSW	1	123,281,157 (GRCm39)	nonsense	probably null
R7375:Dpp10	UTSW	1	123,295,524 (GRCm39)	missense	probably benign
R7387:Dpp10	UTSW	1	123,268,869 (GRCm39)	missense	probably benign	0.01
R7661:Dpp10	UTSW	1	123,312,681 (GRCm39)	missense	probably damaging	1.00
R8065:Dpp10	UTSW	1	123,280,389 (GRCm39)	missense	probably benign
R8067:Dpp10	UTSW	1	123,280,389 (GRCm39)	missense	probably benign
R8260:Dpp10	UTSW	1	123,614,024 (GRCm39)	missense	probably benign
R8324:Dpp10	UTSW	1	123,781,901 (GRCm39)	missense	probably benign	0.02
R8373:Dpp10	UTSW	1	123,781,958 (GRCm39)	missense	possibly damaging	0.94
R8434:Dpp10	UTSW	1	123,360,739 (GRCm39)	missense	probably damaging	1.00
R9068:Dpp10	UTSW	1	123,360,667 (GRCm39)	missense	probably damaging	1.00
R9104:Dpp10	UTSW	1	123,339,484 (GRCm39)	missense	probably damaging	1.00
R9477:Dpp10	UTSW	1	123,304,370 (GRCm39)	missense	possibly damaging	0.46
R9492:Dpp10	UTSW	1	123,281,159 (GRCm39)	missense	probably damaging	1.00
R9524:Dpp10	UTSW	1	123,264,611 (GRCm39)	missense	probably damaging	1.00
R9576:Dpp10	UTSW	1	123,269,409 (GRCm39)	missense	probably damaging	1.00
R9631:Dpp10	UTSW	1	123,269,432 (GRCm39)	missense	probably damaging	1.00
R9736:Dpp10	UTSW	1	123,262,088 (GRCm39)	missense	possibly damaging	0.64
X0019:Dpp10	UTSW	1	123,326,314 (GRCm39)	missense	possibly damaging	0.88
X0020:Dpp10	UTSW	1	123,326,311 (GRCm39)	missense	probably benign	0.36
X0021:Dpp10	UTSW	1	123,360,721 (GRCm39)	missense	probably damaging	1.00
X0024:Dpp10	UTSW	1	123,312,015 (GRCm39)	missense	probably damaging	1.00
Z1176:Dpp10	UTSW	1	123,281,169 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATGAAGATAGGAACCACAGCC -3'
(R):5'- CTTCCAATGCCATGTGAATACATAC -3'

Sequencing Primer
(F):5'- ACAGCCAGGCAGCATGTG -3'
(R):5'- GCAGGCATAAAATAATGATCCCATC -3'

Posted On

2015-01-23