Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Dpp10'

573142

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123321471-124045559 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123341140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 720 (E720G)

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: E709G

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

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: E709G

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: E720G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: E720G

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: 99.7%
20x: 99.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,577	Y182H	probably damaging	Het
Abca6	A	G	11: 110,202,420	V1009A	probably benign	Het
Abcg2	A	T	6: 58,689,624	I573F	possibly damaging	Het
Adck1	A	G	12: 88,461,052	T480A	probably benign	Het
Adcy5	T	C	16: 35,272,090	I607T	probably damaging	Het
Add2	A	G	6: 86,086,015	K52E	probably damaging	Het
Arid4a	T	A	12: 71,087,496	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,255,168	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,622,775	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,629,915	L224P	possibly damaging	Het
BC035947	A	G	1: 78,498,461	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,777,178	V17A	unknown	Het
Cad	T	C	5: 31,061,940	Y669H	probably damaging	Het
Ccdc110	A	T	8: 45,942,196	M375L	probably benign	Het
Cdc6	C	T	11: 98,908,216		probably benign	Het
Cdhr4	T	A	9: 107,996,912	Y72*	probably null	Het
Cenpe	T	G	3: 135,247,037	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,922,057	C28W	possibly damaging	Het
Cma2	A	G	14: 55,973,048	N120S	probably benign	Het
Cped1	A	T	6: 22,059,934	I200L	probably benign	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,212,612	Q18*	probably null	Het
Dus2	G	A	8: 106,045,987	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932	N769S	possibly damaging	Het
Ece1	T	A	4: 137,938,784	I313N	possibly damaging	Het
Ern1	A	T	11: 106,421,952	V201E	probably damaging	Het
Exoc3l	A	G	8: 105,294,973	L141P	probably damaging	Het
Fam168b	G	A	1: 34,819,708	T131M	probably damaging	Het
Fam212a	C	T	9: 107,984,427	R230H	probably damaging	Het
Fez1	T	C	9: 36,867,812	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,138,127	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,314,233	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,914,868	P28S	probably benign	Het
Iqgap1	C	T	7: 80,720,990	V1544I	probably benign	Het
Itga10	A	T	3: 96,652,778	Q536L	probably benign	Het
Itih2	C	T	2: 10,130,508	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,639,781	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,778	S160R	probably benign	Het
Kif11	T	A	19: 37,409,756	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,574,517	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,476,614	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,212,972	T426A	probably damaging	Het
Mcidas	T	C	13: 112,994,088	F40L	probably benign	Het
Med27	T	A	2: 29,413,407	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,132,538	V249A	probably benign	Het
Mllt6	C	A	11: 97,674,600	A592D	probably benign	Het
Mrps5	C	T	2: 127,600,884	T291I	probably damaging	Het
Muc16	T	A	9: 18,641,720	T4426S	probably benign	Het
Myh1	A	T	11: 67,208,889	M542L	probably benign	Het
Nlrp12	G	T	7: 3,241,201	A227D	probably damaging	Het
Nlrp14	T	C	7: 107,183,107	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,266,080	S8G	probably benign	Het
Ntrk2	A	G	13: 58,985,979	K524R	probably damaging	Het
Nup210	C	T	6: 91,021,396		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	T	A	2: 88,526,400	Y272*	probably null	Het
Olfr197	A	T	16: 59,186,336	I49N	probably damaging	Het
Olfr677	T	A	7: 105,057,090	Y281*	probably null	Het
Patl1	A	G	19: 11,933,730	I525M	probably benign	Het
Pcnx3	A	G	19: 5,673,336	L1277P	probably benign	Het
Pelp1	G	A	11: 70,396,599	T461I	probably damaging	Het
Phf20	T	C	2: 156,294,240	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,901,203	Y1193F		Het
Pknox2	G	T	9: 36,957,068		probably benign	Het
Pml	T	C	9: 58,229,894	T541A	probably benign	Het
Prss35	C	T	9: 86,755,921	T248I	probably damaging	Het
Rccd1	T	A	7: 80,320,602	N89I	probably benign	Het
Rcor3	T	C	1: 192,137,524		probably benign	Het
Rreb1	A	G	13: 37,947,064	E16G	unknown	Het
Scgb2b12	T	A	7: 32,326,635	H44L	probably benign	Het
Sec23ip	C	T	7: 128,745,003		probably benign	Het
Sgsm1	A	C	5: 113,263,700	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,902,134	V253A	probably damaging	Het
Spopl	A	T	2: 23,537,509	F204I	probably benign	Het
Sqle	G	A	15: 59,330,754	R519Q	probably benign	Het
Stil	T	G	4: 115,024,036	H592Q	probably benign	Het
Strip1	T	A	3: 107,625,730	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,699,930	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,519,443		probably null	Het
Tmem184c	A	T	8: 77,597,930	Y310*	probably null	Het
Tmem30c	T	C	16: 57,270,023	N274D	probably benign	Het
Trim30c	T	A	7: 104,390,190	I133F	probably damaging	Het
Vars	C	T	17: 35,004,792	Q228*	probably null	Het
Zdbf2	G	A	1: 63,304,039	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,612,641		probably null	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
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'- TTAGAACTCTCATCGTCCATGC -3'
(R):5'- GTACCTTGGCATGCCATCAAAG -3'

Sequencing Primer
(F):5'- CCACTTCCTGTACTCTTGTTCAACAG -3'
(R):5'- AGAAAGCACTTACCAGGTAGAC -3'

Posted On

2019-09-13