Mutagenetix > Incidental Mutation

Incidental Mutation 'R9104:Dpp10'

691863

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123321471-124045559 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123411755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 348 (S348T)

Ref Sequence

ENSEMBL: ENSMUSP00000108225 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112603
AA Change: S337T

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: S337T

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: S348T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: S348T

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

Meta Mutation Damage Score

0.2417

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 43,570,071	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,310,065	A14V	probably benign	Het
Adra2b	A	G	2: 127,363,938	Y125C	probably damaging	Het
Ahnak	T	A	19: 9,010,347	H2998Q	probably benign	Het
B3galt1	C	A	2: 68,118,062	H40Q	probably benign	Het
Best3	T	G	10: 117,024,775	L647V	probably benign	Het
Brip1	T	A	11: 86,187,071	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,524,909	D246G	probably benign	Het
C4b	G	A	17: 34,729,259	T1622M	probably benign	Het
Catip	G	A	1: 74,362,523		probably null	Het
Ccdc138	T	C	10: 58,513,160	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,576,879	H243R	probably damaging	Het
Cep19	C	T	16: 32,107,065	T97M	probably damaging	Het
Copz2	G	A	11: 96,856,688	D166N	possibly damaging	Het
Dedd	C	T	1: 171,341,004	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,898,506		probably null	Het
Eci3	A	G	13: 34,960,399		probably null	Het
Egr4	A	G	6: 85,513,355	S15P	probably benign	Het
Elp6	A	G	9: 110,305,329	T12A	probably benign	Het
Ewsr1	G	T	11: 5,091,367	P113T	unknown	Het
Exosc10	T	G	4: 148,580,402	L789R	probably benign	Het
Flt4	A	G	11: 49,634,334	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,952,317	F333I	probably damaging	Het
Frs2	G	T	10: 117,074,165	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,667,034		probably benign	Het
Gm19410	T	C	8: 35,780,467	Y478H	probably damaging	Het
Gm3460	G	A	14: 6,619,543	R150C		Het
Grik4	A	C	9: 42,659,872	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,859,092		probably null	Het
Il20ra	T	A	10: 19,759,616	M535K	probably benign	Het
Il9	A	G	13: 56,480,588	V96A	possibly damaging	Het
Itgal	A	G	7: 127,311,622	D592G	probably damaging	Het
Klk11	C	T	7: 43,778,451		probably benign	Het
Klk1b27	G	A	7: 44,055,886	W159*	probably null	Het
Mapk9	T	C	11: 49,869,173	Y105H	probably damaging	Het
Mmp7	A	G	9: 7,697,946		probably benign	Het
Muc2	T	C	7: 141,699,655	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,643,259	N131D	unknown	Het
Nbea	A	C	3: 55,955,388	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,382,412	L630I	probably benign	Het
Olfr335-ps	T	C	2: 36,301,944	V135A		Het
Olfr809	T	C	10: 129,776,652	V261A	probably damaging	Het
Olfr944	G	A	9: 39,217,535	M59I	probably damaging	Het
Pbx3	C	A	2: 34,224,617	D102Y	probably damaging	Het
Pdia6	G	A	12: 17,270,491	V44I	probably benign	Het
Pkdcc	G	A	17: 83,221,042	R280H	probably damaging	Het
Ppm1h	A	G	10: 122,802,359	E178G	probably benign	Het
Prom1	C	T	5: 44,014,819	S619N	probably benign	Het
Prtg	A	C	9: 72,848,325	I270L	probably damaging	Het
Rfx6	A	T	10: 51,723,010	H487L	probably damaging	Het
Rpl18a	A	C	8: 70,896,144	Y63D	probably benign	Het
Rtl1	T	A	12: 109,594,284	M374L	probably benign	Het
Scaper	A	G	9: 55,912,116	L105P	unknown	Het
Slc16a13	T	A	11: 70,220,704		probably benign	Het
Slc6a13	A	G	6: 121,336,085	K487R	probably benign	Het
Slc7a11	T	A	3: 50,377,633	T459S	probably benign	Het
Smarcad1	A	G	6: 65,098,665	Q708R	probably benign	Het
Stat2	T	C	10: 128,281,242		probably null	Het
Syde1	T	C	10: 78,585,836	H627R	probably benign	Het
Tas2r113	G	A	6: 132,893,153	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,147,800	Y690C	probably damaging	Het
Tchh	A	T	3: 93,447,303	H1350L	unknown	Het
Tex15	T	A	8: 33,570,922	Y127N	possibly damaging	Het
Thsd4	T	C	9: 60,056,896	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,124,273	D216G	probably benign	Het
Tyk2	T	C	9: 21,115,466	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,901,297		probably null	Het
Uvssa	A	C	5: 33,414,060	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,454,167	M198K	probably benign	Het
Zfp772	T	A	7: 7,204,191	H167L	possibly damaging	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
R9068:Dpp10	UTSW	1	123432938	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'- CTTCCTCAGTCAGAAAGTGTACAC -3'
(R):5'- TGGAAAAGTCAAGTGTAGGCTAGTTTC -3'

Sequencing Primer
(F):5'- CTCAGTCAGAAAGTGTACACATTAAC -3'
(R):5'- TGTACACAGAATACAATATCCT -3'

Posted On

2021-12-30