Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Dpp10'

722262

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 #

R9576 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123321471-124045559 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123341680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 667 (S667P)

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: S656P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: S656P

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: S667P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: S667P

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 82,063,642	I580N	probably benign	Het
Aars	T	A	8: 111,041,664	Y222*	probably null	Het
Abi2	G	T	1: 60,409,849	R16L	possibly damaging	Het
Adam9	C	A	8: 24,955,937	V814F	probably benign	Het
Adgrv1	T	C	13: 81,543,489	T1660A	probably benign	Het
Aipl1	C	T	11: 72,037,427	G11D	probably damaging	Het
Arhgap26	T	A	18: 39,120,154	Y211*	probably null	Het
Ascc3	T	C	10: 50,618,158	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,119,136	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,368,385	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,945,490	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,837,975	T241A		Het
Chd9	T	A	8: 90,932,666	S85T	unknown	Het
Cltc	G	A	11: 86,702,411	S1542F	probably benign	Het
Col6a4	C	A	9: 106,068,072	A948S	probably benign	Het
Crygb	T	C	1: 65,080,527	D98G	probably benign	Het
Ctbp2	A	T	7: 133,014,469	S246T	probably benign	Het
Dcp1b	T	A	6: 119,220,032	Y563*	probably null	Het
Ddx59	T	A	1: 136,416,943	Y117*	probably null	Het
Dhx30	A	G	9: 110,087,644	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,140	T1030M	probably benign	Het
Epha7	G	A	4: 28,870,659	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,259,683	T300S	probably benign	Het
Glp2r	T	C	11: 67,764,796	K40R	probably benign	Het
H2-Q5	G	A	17: 35,394,437	V49M		Het
Havcr1	T	A	11: 46,778,564	V290E	probably benign	Het
Hc	T	A	2: 34,983,755	T1656S	probably benign	Het
Hfm1	A	T	5: 106,874,072	I999N	probably benign	Het
Hoxc4	A	T	15: 103,035,958	E254V	probably benign	Het
Il5ra	T	C	6: 106,735,727	N275S	probably damaging	Het
Itfg2	C	A	6: 128,412,987	A272S	probably benign	Het
Itpr2	A	T	6: 146,311,007	I1537N	probably damaging	Het
Jakmip3	A	G	7: 139,020,259	E296G	probably damaging	Het
Jchain	T	G	5: 88,526,117	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,897,533	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Klk1b4	A	T	7: 44,211,053	D165V	probably benign	Het
Krt2	T	A	15: 101,811,357	Y626F	unknown	Het
Lrrk2	T	A	15: 91,752,185	L1454*	probably null	Het
Myb	C	T	10: 21,154,713	D62N	probably benign	Het
Myo18a	T	A	11: 77,819,001	I607N	probably damaging	Het
Nefh	C	T	11: 4,941,222	E466K	possibly damaging	Het
Nudc	T	C	4: 133,535,678	E118G	probably benign	Het
Olfr171	A	T	16: 19,624,211	D296E	probably damaging	Het
Olfr679	T	C	7: 105,086,553	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Per1	T	A	11: 69,108,029	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Plec	C	A	15: 76,231,177	A66S	probably benign	Het
Plekha7	T	C	7: 116,129,434	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 25,097,144	A302S	probably benign	Het
Prkag3	A	T	1: 74,747,923	W59R		Het
Rin3	T	A	12: 102,369,330	L420*	probably null	Het
Sash1	T	A	10: 8,744,535	M454L	probably benign	Het
Serpina3i	A	G	12: 104,268,471	T354A	probably benign	Het
Skap1	T	C	11: 96,581,204	F101S	probably benign	Het
Slc16a8	T	A	15: 79,251,982	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,702,105	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,318,786	D47A	probably benign	Het
Slfn9	T	A	11: 82,987,385	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,434,938	M387V	probably benign	Het
Srl	A	T	16: 4,483,167	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,862,365	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,609,837	G385W	probably damaging	Het
Tmem191c	C	T	16: 17,276,662	R62*	probably null	Het
Triobp	T	C	15: 78,960,066	S161P	probably damaging	Het
Usp13	A	T	3: 32,914,986		probably null	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r230	C	A	17: 20,846,901	C117*	probably null	Het
Vmn2r50	T	C	7: 10,037,263	Q837R	probably benign	Het
Zfp618	T	C	4: 63,133,045	S688P	probably benign	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
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
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'- GTCACGCTCCAGTAAAATCAATTG -3'
(R):5'- TGGAGCAATTCTAGGATACATGGTG -3'

Sequencing Primer
(F):5'- CAATTGCATAAAGGAGGTGATAACTC -3'
(R):5'- GAGATATTGGAACATGTGCA -3'

Posted On

2022-08-09