Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Dpp10'

225037

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123259871-124773774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123832833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 48 (V48E)

Ref Sequence

ENSEMBL: ENSMUSP00000108225 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000112603
AA Change: V37E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: V37E

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 null
Transcript: ENSMUST00000112606
AA Change: V48E

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

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: V48E

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: ENSMUST00000140361

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Afap1l2	A	T	19: 56,990,699 (GRCm39)	I18N	possibly damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,094,644 (GRCm39)	S48P	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,088,916 (GRCm39)	N466D	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,629,257 (GRCm39)	E523G	probably benign	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Bag3	C	T	7: 128,147,407 (GRCm39)	H341Y	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cep290	T	A	10: 100,367,046 (GRCm39)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cped1	A	G	6: 22,233,926 (GRCm39)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm39)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dnai3	G	T	3: 145,769,235 (GRCm39)	T522K	possibly damaging	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Erc2	A	G	14: 27,733,593 (GRCm39)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fhad1	T	C	4: 141,709,473 (GRCm39)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,134,132 (GRCm39)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,759,202 (GRCm39)	M270L	probably benign	Het
Grin3b	C	A	10: 79,806,746 (GRCm39)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,810,480 (GRCm39)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,516,480 (GRCm39)	V157D	probably damaging	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Krt81	T	C	15: 101,360,435 (GRCm39)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lin54	A	G	5: 100,633,660 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Manba	T	A	3: 135,256,952 (GRCm39)	D538E	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mfap4	T	C	11: 61,376,633 (GRCm39)		probably null	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek4	A	G	14: 30,678,910 (GRCm39)	I145V	probably damaging	Het
Nlrp14	T	C	7: 106,795,407 (GRCm39)	V230A	probably benign	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Or11h6	G	A	14: 50,880,323 (GRCm39)	C195Y	possibly damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or6k8-ps1	C	T	1: 173,979,687 (GRCm39)	H202Y	probably damaging	Het
Pcdhb13	C	T	18: 37,576,912 (GRCm39)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,204,828 (GRCm39)	L188R	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,198,936 (GRCm39)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,321,201 (GRCm39)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,431,895 (GRCm39)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,817,655 (GRCm39)	D203A	probably damaging	Het
Psg17	A	G	7: 18,548,577 (GRCm39)	V398A	probably benign	Het
Pum1	T	A	4: 130,445,529 (GRCm39)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,096,753 (GRCm39)	D108E	probably damaging	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,343,252 (GRCm39)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,452,293 (GRCm39)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint5	T	C	2: 164,558,903 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,484,174 (GRCm39)		probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,288,360 (GRCm39)		probably benign	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim30a	T	A	7: 104,079,437 (GRCm39)		probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm39)	I279T	probably benign	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ush2a	C	T	1: 188,310,729 (GRCm39)		probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm39)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,001,853 (GRCm39)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,994,305 (GRCm39)	V448A	probably damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,313,452 (GRCm39)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	Het
Zfr2	A	T	10: 81,078,686 (GRCm39)	D306V	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
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

Predicted Primers

PCR Primer
(F):5'- GGATCCAGCTTCACCCTAAATG -3'
(R):5'- TTCAAACTGCGATCGTGCC -3'

Sequencing Primer
(F):5'- TCCACAAATATCACCATGTCATTAGG -3'
(R):5'- CGATCGTGCCTGTGCTGAATC -3'

Posted On

2014-08-25