Mutagenetix > Incidental Mutations

Incidental Mutation 'R5334:Dpp6'

423396

Institutional Source

Beutler Lab

Gene Symbol

Dpp6

Ensembl Gene

ENSMUSG00000061576

Gene Name

dipeptidylpeptidase 6

Synonyms

Rw, LOC384168, Peplb, Dpp-6, B930011P16Rik, In(5)6H-p

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26817203-27727505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27709540 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 541 (E541V)

Ref Sequence

ENSEMBL: ENSMUSP00000071435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]

Predicted Effect

probably benign
Transcript: ENSMUST00000071500
AA Change: E541V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: E541V

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:DPPIV_N	134	500	7.2e-114	PFAM
Pfam:PD40	365	402	1.1e-5	PFAM
Pfam:Peptidase_S9	579	789	2.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101471
AA Change: E540V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: E540V

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
Pfam:DPPIV_N	133	499	2.6e-114	PFAM
Pfam:PD40	364	401	9.3e-6	PFAM
Pfam:Peptidase_S9	578	788	1.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120555
AA Change: E538V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: E538V

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:DPPIV_N	131	497	2.6e-114	PFAM
Pfam:PD40	362	399	9.2e-6	PFAM
Pfam:Peptidase_S9	576	786	1.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122171
AA Change: E596V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: E596V

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
transmembrane domain	90	112	N/A	INTRINSIC
Pfam:DPPIV_N	189	555	6.4e-113	PFAM
Pfam:PD40	425	457	1.1e-4	PFAM
Pfam:Peptidase_S9	634	844	4.3e-40	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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 peptidase S9B family of 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. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit loss of A-type K+ current gradients in distal dendrites. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,738,671	S142L	probably benign	Het
Apol11a	A	G	15: 77,516,753	T147A	probably benign	Het
Aqp9	T	C	9: 71,123,010		probably null	Het
Arhgap25	T	A	6: 87,463,261	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,646,329	S924R	probably damaging	Het
Atad3a	A	T	4: 155,755,689	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,083,245	I136V	probably damaging	Het
Col24a1	C	A	3: 145,461,525	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,938,267		probably null	Het
Dnah7a	A	G	1: 53,503,646	I2455T	probably benign	Het
Dock2	T	C	11: 34,228,643	T1795A	probably benign	Het
Edem1	T	C	6: 108,848,832		probably null	Het
Fbxo41	A	G	6: 85,478,483	V573A	probably damaging	Het
Fech	A	C	18: 64,464,120	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gal3st4	T	G	5: 138,265,721	K339Q	probably benign	Het
Gm11487	T	A	4: 73,403,517	M94L	probably benign	Het
Gm884	T	C	11: 103,613,873	Q2423R	probably benign	Het
Gpr158	T	A	2: 21,827,505	S1139T	probably benign	Het
Gpr180	A	T	14: 118,160,056	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
Grin2c	T	G	11: 115,256,055	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,726,291	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,755,372	I892F	probably damaging	Het
Ifi207	C	T	1: 173,727,531	V869I	probably benign	Het
Itgad	T	C	7: 128,189,286	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnj15	A	G	16: 95,296,649	K377E	probably damaging	Het
Kcnq3	A	G	15: 66,025,224	S276P	probably damaging	Het
Klhl26	T	C	8: 70,452,318	D280G	probably damaging	Het
Lmnb2	C	T	10: 80,903,957	V376I	probably benign	Het
Mepce	T	A	5: 137,786,627	R29S	probably benign	Het
Mlh3	A	G	12: 85,245,761		probably null	Het
Mlip	T	A	9: 77,243,676	T33S	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ncapg2	T	C	12: 116,426,637	I402T	probably damaging	Het
Olfr1026	T	C	2: 85,923,714	Y149H	probably damaging	Het
Olfr171	C	G	16: 19,624,491	G203A	probably benign	Het
Pcsk5	T	C	19: 17,461,851	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,854,903	M213V	probably benign	Het
Plxdc1	T	C	11: 97,956,105	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,459,493	L373P	probably damaging	Het
Prickle2	A	G	6: 92,425,684	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,272,351	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,217,889	D903G	probably damaging	Het
Slc17a2	T	C	13: 23,819,051	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,137,364	E1025G	possibly damaging	Het
Sult1c1	T	G	17: 53,964,730	D143A	probably damaging	Het
Taar1	T	G	10: 23,920,545	I47R	probably damaging	Het
Tctn3	G	T	19: 40,602,822	Q514K	probably benign	Het
Tg	T	C	15: 66,678,055	F222S	probably damaging	Het
Tmem236	C	A	2: 14,219,060	T220K	possibly damaging	Het
Trim50	C	T	5: 135,367,476	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,314,680	F222L	probably benign	Het
Wrap73	G	A	4: 154,145,274	R34Q	probably damaging	Het
Zfp85	T	C	13: 67,751,684	Y52C	probably damaging	Het

Other mutations in Dpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Dpp6	APN	5	27723443	missense	probably damaging	1.00
IGL01137:Dpp6	APN	5	27714488	missense	probably damaging	1.00
IGL01386:Dpp6	APN	5	27664762	critical splice donor site	probably null
IGL01409:Dpp6	APN	5	27557601	missense	probably damaging	1.00
IGL01721:Dpp6	APN	5	27631520	missense	probably damaging	1.00
IGL02149:Dpp6	APN	5	27538024	missense	probably benign	0.00
IGL02174:Dpp6	APN	5	27721087	nonsense	probably null
IGL02176:Dpp6	APN	5	27723577	missense	probably damaging	0.98
IGL02326:Dpp6	APN	5	27664757	missense	probably damaging	1.00
IGL02336:Dpp6	APN	5	27469411	missense	probably benign	0.04
IGL02339:Dpp6	APN	5	27652230	missense	probably damaging	0.97
IGL02402:Dpp6	APN	5	27634543	missense	probably damaging	1.00
IGL02884:Dpp6	APN	5	27634556	missense	possibly damaging	0.88
IGL02885:Dpp6	APN	5	27718473	missense	probably damaging	1.00
IGL02938:Dpp6	APN	5	27723367	splice site	probably benign
IGL03083:Dpp6	APN	5	27709550	critical splice donor site	probably null
I0000:Dpp6	UTSW	5	27398922	missense	probably benign	0.02
IGL03052:Dpp6	UTSW	5	27709508	missense	probably benign	0.03
PIT4431001:Dpp6	UTSW	5	27631498	missense	probably benign	0.03
R0060:Dpp6	UTSW	5	27598819	missense	probably damaging	1.00
R0360:Dpp6	UTSW	5	27652269	missense	probably damaging	1.00
R0486:Dpp6	UTSW	5	27661642	missense	probably benign	0.39
R0501:Dpp6	UTSW	5	27725606	missense	probably damaging	1.00
R1028:Dpp6	UTSW	5	27666427	missense	probably benign	0.01
R1164:Dpp6	UTSW	5	27721105	missense	probably benign	0.02
R1177:Dpp6	UTSW	5	27663473	missense	possibly damaging	0.94
R1993:Dpp6	UTSW	5	27399006	missense	probably benign	0.00
R2024:Dpp6	UTSW	5	27709459	missense	possibly damaging	0.67
R2100:Dpp6	UTSW	5	27664744	missense	probably damaging	0.96
R2329:Dpp6	UTSW	5	27451288	splice site	probably null
R3619:Dpp6	UTSW	5	27721120	missense	possibly damaging	0.74
R3871:Dpp6	UTSW	5	27469465	missense	probably benign	0.03
R3872:Dpp6	UTSW	5	27721058	missense	probably damaging	1.00
R4114:Dpp6	UTSW	5	27469487	critical splice donor site	probably null
R4403:Dpp6	UTSW	5	27718462	missense	probably damaging	1.00
R4599:Dpp6	UTSW	5	27634548	missense	probably damaging	1.00
R4736:Dpp6	UTSW	5	27712659	missense	probably damaging	1.00
R4929:Dpp6	UTSW	5	27049787	missense	probably benign	0.25
R4967:Dpp6	UTSW	5	27666511	missense	probably damaging	1.00
R5162:Dpp6	UTSW	5	27399015	unclassified	probably benign
R5270:Dpp6	UTSW	5	27634534	missense	probably damaging	0.98
R5437:Dpp6	UTSW	5	27663501	nonsense	probably null
R5663:Dpp6	UTSW	5	27049622	missense	possibly damaging	0.84
R6023:Dpp6	UTSW	5	27723547	missense	probably damaging	0.96
R6244:Dpp6	UTSW	5	27049628	missense	probably damaging	0.99
R6312:Dpp6	UTSW	5	27725671	missense	possibly damaging	0.84
R6442:Dpp6	UTSW	5	27718509	critical splice donor site	probably null
R6942:Dpp6	UTSW	5	27469459	missense	possibly damaging	0.79
R6956:Dpp6	UTSW	5	27598821	missense	probably damaging	1.00
R7210:Dpp6	UTSW	5	27598803	missense	probably damaging	0.99
R7342:Dpp6	UTSW	5	27714554	missense	probably benign
R7702:Dpp6	UTSW	5	27652276	missense	probably benign	0.00
R7727:Dpp6	UTSW	5	27451244	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTTGATACTAGGGCCCCAGG -3'
(R):5'- AAAGGCTCTGTCCTGCTGTC -3'

Sequencing Primer
(F):5'- CCCAGGTCTTGAATGAGCTATCTG -3'
(R):5'- TCTTCAGGGGAGGAATCATAAATCTG -3'

Posted On

2016-08-04