Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Dpp10'

523664

Institutional Source

Beutler Lab

Gene Symbol

Dpp10

Ensembl Gene

ENSMUSG00000036815

Gene Name

dipeptidylpeptidase 10

Synonyms

6430601K09Rik, DPRP3

MMRRC Submission

044637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123259871-124773774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123264580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 747 (I747M)

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: I736M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108222
Gene: ENSMUSG00000036815
AA Change: I736M

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: I747M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108225
Gene: ENSMUSG00000036815
AA Change: I747M

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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
1700010I14Rik	A	T	17: 9,220,772 (GRCm39)	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,285,115 (GRCm39)	A8V	probably benign	Het
Ago1	G	A	4: 126,357,628 (GRCm39)	P16S	probably benign	Het
Ak5	C	T	3: 152,187,306 (GRCm39)	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,660,068 (GRCm39)	Y498C	probably damaging	Het
Alox12	T	A	11: 70,141,030 (GRCm39)	D335V	probably damaging	Het
Alx4	A	T	2: 93,498,904 (GRCm39)	Y212F	probably damaging	Het
Asb16	A	G	11: 102,167,303 (GRCm39)	E223G	probably damaging	Het
Atg9b	C	T	5: 24,595,575 (GRCm39)	V235M	probably damaging	Het
BB014433	A	G	8: 15,092,304 (GRCm39)	V183A	probably benign	Het
Brca1	T	A	11: 101,414,367 (GRCm39)	M1256L	probably benign	Het
Bst1	A	G	5: 43,977,932 (GRCm39)	I94V	probably benign	Het
C3ar1	A	G	6: 122,827,599 (GRCm39)	L206P	probably benign	Het
Cabs1	T	A	5: 88,128,522 (GRCm39)	M391K	possibly damaging	Het
Cars1	C	T	7: 143,118,744 (GRCm39)	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,760,592 (GRCm39)	Y73*	probably null	Het
Cd177	A	C	7: 24,443,671 (GRCm39)	L809W	probably benign	Het
Cemip	C	A	7: 83,600,805 (GRCm39)	G939*	probably null	Het
Clca3b	T	A	3: 144,531,020 (GRCm39)	I777F	probably benign	Het
Cma2	T	C	14: 56,211,236 (GRCm39)	I176T	probably damaging	Het
Col12a1	T	A	9: 79,554,887 (GRCm39)	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,262,805 (GRCm39)	N860S	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dennd4b	A	G	3: 90,174,918 (GRCm39)	E50G	probably damaging	Het
Dis3l	A	T	9: 64,214,795 (GRCm39)	S925T	probably benign	Het
Disp1	T	C	1: 182,868,076 (GRCm39)	N1448S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephx4	A	T	5: 107,551,522 (GRCm39)	K36*	probably null	Het
Fam135a	C	T	1: 24,053,953 (GRCm39)	V1195I	probably damaging	Het
Fap	A	T	2: 62,376,947 (GRCm39)	Y234*	probably null	Het
Fem1c	A	T	18: 46,638,942 (GRCm39)	N353K	possibly damaging	Het
Furin	C	A	7: 80,043,365 (GRCm39)	R282L	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,568,828 (GRCm39)	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,031,379 (GRCm39)	T15S	probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Il18r1	A	T	1: 40,528,867 (GRCm39)	I304L	probably benign	Het
Ino80	A	T	2: 119,281,922 (GRCm39)	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,395,507 (GRCm39)	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,236,744 (GRCm39)	M435T	probably benign	Het
Kcnh4	T	C	11: 100,647,911 (GRCm39)	N151D	probably benign	Het
Lama3	T	C	18: 12,628,405 (GRCm39)	M1499T	probably benign	Het
Lamb1	A	T	12: 31,373,461 (GRCm39)	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,664,211 (GRCm39)	R239*	probably null	Het
Map2k4	A	T	11: 65,584,355 (GRCm39)	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,873,768 (GRCm39)	F784S	probably damaging	Het
Mrgpra9	T	A	7: 46,884,884 (GRCm39)	N260I	probably benign	Het
Mrnip	C	A	11: 50,090,679 (GRCm39)	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,808,501 (GRCm39)	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,269,184 (GRCm39)	I406T	possibly damaging	Het
Neto1	A	G	18: 86,516,699 (GRCm39)	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,104,025 (GRCm39)	D541G	probably damaging	Het
Nuak2	C	A	1: 132,244,132 (GRCm39)	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,582,439 (GRCm39)	T118A	probably benign	Het
Or11i1	T	G	3: 106,729,638 (GRCm39)	N79T	possibly damaging	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or51af1	T	A	7: 103,141,858 (GRCm39)	T76S	probably damaging	Het
Or52e19	C	A	7: 102,959,000 (GRCm39)	A24D	probably benign	Het
Or5d16	A	T	2: 87,773,518 (GRCm39)	Y151*	probably null	Het
Or5p59	T	C	7: 107,702,774 (GRCm39)	V86A	probably benign	Het
Or6d13	C	T	6: 116,517,561 (GRCm39)	T49M	probably benign	Het
Or7a40	A	T	16: 16,491,784 (GRCm39)	D20E	probably benign	Het
Or7g29	T	C	9: 19,286,237 (GRCm39)	*313W	probably null	Het
Pcdhb5	T	A	18: 37,453,933 (GRCm39)	H104Q	probably benign	Het
Phf11a	T	C	14: 59,514,986 (GRCm39)	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,383,615 (GRCm39)	T478I	probably benign	Het
Prkacb	T	A	3: 146,438,401 (GRCm39)	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,957,776 (GRCm39)	D221E	probably damaging	Het
Prr11	T	A	11: 86,996,950 (GRCm39)	K5*	probably null	Het
Prrc2b	G	A	2: 32,112,332 (GRCm39)	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,822,147 (GRCm39)	Q233*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sash1	C	G	10: 8,605,291 (GRCm39)	G1033A	probably benign	Het
Sncaip	C	A	18: 53,039,609 (GRCm39)	S189*	probably null	Het
Sorl1	T	C	9: 41,982,530 (GRCm39)	Y350C	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Speg	C	A	1: 75,406,167 (GRCm39)	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 59,994,144 (GRCm39)	D224V	probably benign	Het
Tg	G	A	15: 66,631,407 (GRCm39)	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,861,502 (GRCm39)	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,920 (GRCm39)	C278Y	probably damaging	Het
Togaram1	T	C	12: 65,013,364 (GRCm39)	I205T	possibly damaging	Het
Usp19	T	A	9: 108,374,082 (GRCm39)	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,489,824 (GRCm39)	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,364,983 (GRCm39)	S475P	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
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
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
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'- ACACATTCATGCACATGTGAGTG -3'
(R):5'- CCAGCAGGTCTTTCTTCCAAG -3'

Sequencing Primer
(F):5'- GTATGATACTTCCTTGCCACAGAGG -3'
(R):5'- CCAAGTATACAATGTGTGTAGAGCAC -3'

Posted On

2018-06-22