Mutagenetix > Incidental Mutation

Incidental Mutation 'R0104:Dpp10'

17870

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

038390-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0104 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

123259871-124773774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123295572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 525 (M525K)

Ref Sequence

ENSEMBL: ENSMUSP00000108225 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112603
AA Change: M514K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: M514K

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 benign
Transcript: ENSMUST00000112606
AA Change: M525K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: M525K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194472

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 75.5%
3x: 52.6%
10x: 7.5%
20x: 3.0%

Validation Efficiency

100% (37/37)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,469 (GRCm39)	A28S	probably damaging	Het
Arhgap5	A	T	12: 52,563,500 (GRCm39)	D157V	probably damaging	Het
Cfap54	G	T	10: 92,864,514 (GRCm39)	H142N	probably damaging	Het
Fsip2	A	T	2: 82,809,317 (GRCm39)	T1879S	possibly damaging	Het
Gm14129	T	C	2: 148,773,493 (GRCm39)		noncoding transcript	Het
Ighv2-7	A	T	12: 113,771,088 (GRCm39)	W66R	probably damaging	Het
Kif11	T	A	19: 37,401,663 (GRCm39)	V880D	probably benign	Het
Mcpt1	T	A	14: 56,256,888 (GRCm39)	M142K	possibly damaging	Het
Mlst8	T	C	17: 24,695,091 (GRCm39)	N264S	possibly damaging	Het
Nmrk1	T	A	19: 18,618,582 (GRCm39)	S88R	probably benign	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or8d23	A	G	9: 38,842,261 (GRCm39)	S265G	possibly damaging	Het
Rtn1	A	T	12: 72,355,619 (GRCm39)	I109N	probably damaging	Het
Slc15a2	T	A	16: 36,594,997 (GRCm39)	L156F	possibly damaging	Het
Slc22a21	A	C	11: 53,842,635 (GRCm39)	M498R	probably null	Het
Ssc5d	T	C	7: 4,939,285 (GRCm39)	S574P	probably benign	Het
Taf2	T	C	15: 54,901,734 (GRCm39)	D820G	probably benign	Het
Tas2r135	A	T	6: 42,383,258 (GRCm39)	I266F	possibly damaging	Het
Trgv4	C	T	13: 19,369,480 (GRCm39)	H75Y	probably damaging	Het
Vil1	A	G	1: 74,457,525 (GRCm39)	K53E	probably benign	Het
Zfc3h1	T	A	10: 115,251,192 (GRCm39)	M1261K	possibly damaging	Het
Zfp655	T	C	5: 145,180,825 (GRCm39)	S228P	probably damaging	Het
Zfyve9	C	A	4: 108,575,360 (GRCm39)	D574Y	probably 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
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
R2882:Dpp10	UTSW	1	123,372,932 (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

Posted On

2013-03-25