Mutagenetix > Incidental Mutation

Incidental Mutation 'R6442:Dpp6'

519052

Institutional Source

Beutler Lab

Gene Symbol

Dpp6

Ensembl Gene

ENSMUSG00000061576

Gene Name

dipeptidylpeptidase 6

Synonyms

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

MMRRC Submission

044580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27022355-27932498 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 27923507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113441 (fasta)

Gene Model

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

AlphaFold

Q9Z218

Predicted Effect

probably null
Transcript: ENSMUST00000071500

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576

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 null
Transcript: ENSMUST00000101471

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576

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 null
Transcript: ENSMUST00000120555

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576

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 null
Transcript: ENSMUST00000122171

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9a	T	C	2: 168,491,481 (GRCm39)	T695A	probably benign	Het
Btla	A	G	16: 45,044,821 (GRCm39)	N36D	probably benign	Het
Btla	T	C	16: 45,070,713 (GRCm39)	V224A	possibly damaging	Het
Cep126	T	C	9: 8,100,564 (GRCm39)	N657D	probably benign	Het
Cops3	T	A	11: 59,718,780 (GRCm39)	K171N	probably benign	Het
Crocc2	A	G	1: 93,112,775 (GRCm39)	R193G	probably benign	Het
Dis3l	T	C	9: 64,214,837 (GRCm39)	I911V	probably benign	Het
Efcab5	A	T	11: 76,996,260 (GRCm39)	Y1100*	probably null	Het
Fcgbpl1	C	T	7: 27,843,611 (GRCm39)	T833I	possibly damaging	Het
Galnt10	A	G	11: 57,656,448 (GRCm39)	T211A	probably benign	Het
Gdf9	A	G	11: 53,324,515 (GRCm39)	T95A	probably benign	Het
Gm826	T	A	2: 160,169,328 (GRCm39)		probably benign	Het
Hsd17b6	C	T	10: 127,829,636 (GRCm39)		probably null	Het
Hyal4	A	G	6: 24,765,849 (GRCm39)	N401S	probably benign	Het
Itga8	C	T	2: 12,234,954 (GRCm39)	V435I	probably benign	Het
Nr1h5	G	A	3: 102,848,427 (GRCm39)	P418L	probably damaging	Het
Or3a4	G	A	11: 73,945,505 (GRCm39)	R27W	probably benign	Het
Or4f15	G	A	2: 111,813,874 (GRCm39)	P182S	probably damaging	Het
Or4n4	T	G	14: 50,518,826 (GRCm39)	K295Q	probably damaging	Het
Or6c214	C	A	10: 129,591,277 (GRCm39)	G14V	probably damaging	Het
Or9i14	T	C	19: 13,792,992 (GRCm39)		probably benign	Het
Prdm11	G	A	2: 92,805,990 (GRCm39)	A320V	probably benign	Het
Ptpn5	T	C	7: 46,732,831 (GRCm39)		probably null	Het
Reln	T	A	5: 22,137,774 (GRCm39)	I2473L	probably benign	Het
Rmnd5a	A	T	6: 71,371,659 (GRCm39)	C180*	probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sapcd2	T	A	2: 25,266,134 (GRCm39)		probably benign	Het
Sec24b	A	G	3: 129,790,350 (GRCm39)	L462S	probably damaging	Het
Slc26a9	A	T	1: 131,686,555 (GRCm39)	Y425F	possibly damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Tgs1	T	A	4: 3,604,760 (GRCm39)	Y727*	probably null	Het
Tmem80	T	C	7: 140,915,839 (GRCm39)	V83A	probably benign	Het
Ttn	T	C	2: 76,551,978 (GRCm39)	T31220A	probably benign	Het
Usp46	A	T	5: 74,177,377 (GRCm39)	D167E	probably benign	Het
Vmn2r67	T	A	7: 84,805,046 (GRCm39)	D22V	possibly damaging	Het
Zswim5	C	A	4: 116,808,202 (GRCm39)	P262Q	probably damaging	Het

Other mutations in Dpp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Dpp6	APN	5	27,928,441 (GRCm39)	missense	probably damaging	1.00
IGL01137:Dpp6	APN	5	27,919,486 (GRCm39)	missense	probably damaging	1.00
IGL01386:Dpp6	APN	5	27,869,760 (GRCm39)	critical splice donor site	probably null
IGL01409:Dpp6	APN	5	27,762,599 (GRCm39)	missense	probably damaging	1.00
IGL01721:Dpp6	APN	5	27,836,518 (GRCm39)	missense	probably damaging	1.00
IGL02149:Dpp6	APN	5	27,743,022 (GRCm39)	missense	probably benign	0.00
IGL02174:Dpp6	APN	5	27,926,085 (GRCm39)	nonsense	probably null
IGL02176:Dpp6	APN	5	27,928,575 (GRCm39)	missense	probably damaging	0.98
IGL02326:Dpp6	APN	5	27,869,755 (GRCm39)	missense	probably damaging	1.00
IGL02336:Dpp6	APN	5	27,674,409 (GRCm39)	missense	probably benign	0.04
IGL02339:Dpp6	APN	5	27,857,228 (GRCm39)	missense	probably damaging	0.97
IGL02402:Dpp6	APN	5	27,839,541 (GRCm39)	missense	probably damaging	1.00
IGL02884:Dpp6	APN	5	27,839,554 (GRCm39)	missense	possibly damaging	0.88
IGL02885:Dpp6	APN	5	27,923,471 (GRCm39)	missense	probably damaging	1.00
IGL02938:Dpp6	APN	5	27,928,365 (GRCm39)	splice site	probably benign
IGL03083:Dpp6	APN	5	27,914,548 (GRCm39)	critical splice donor site	probably null
I0000:Dpp6	UTSW	5	27,603,920 (GRCm39)	missense	probably benign	0.02
IGL03052:Dpp6	UTSW	5	27,914,506 (GRCm39)	missense	probably benign	0.03
PIT4431001:Dpp6	UTSW	5	27,836,496 (GRCm39)	missense	probably benign	0.03
R0060:Dpp6	UTSW	5	27,803,817 (GRCm39)	missense	probably damaging	1.00
R0360:Dpp6	UTSW	5	27,857,267 (GRCm39)	missense	probably damaging	1.00
R0486:Dpp6	UTSW	5	27,866,640 (GRCm39)	missense	probably benign	0.39
R0501:Dpp6	UTSW	5	27,930,604 (GRCm39)	missense	probably damaging	1.00
R1028:Dpp6	UTSW	5	27,871,425 (GRCm39)	missense	probably benign	0.01
R1164:Dpp6	UTSW	5	27,926,103 (GRCm39)	missense	probably benign	0.02
R1177:Dpp6	UTSW	5	27,868,471 (GRCm39)	missense	possibly damaging	0.94
R1993:Dpp6	UTSW	5	27,604,004 (GRCm39)	missense	probably benign	0.00
R2024:Dpp6	UTSW	5	27,914,457 (GRCm39)	missense	possibly damaging	0.67
R2100:Dpp6	UTSW	5	27,869,742 (GRCm39)	missense	probably damaging	0.96
R2329:Dpp6	UTSW	5	27,656,286 (GRCm39)	splice site	probably null
R3619:Dpp6	UTSW	5	27,926,118 (GRCm39)	missense	possibly damaging	0.74
R3871:Dpp6	UTSW	5	27,674,463 (GRCm39)	missense	probably benign	0.03
R3872:Dpp6	UTSW	5	27,926,056 (GRCm39)	missense	probably damaging	1.00
R4114:Dpp6	UTSW	5	27,674,485 (GRCm39)	critical splice donor site	probably null
R4403:Dpp6	UTSW	5	27,923,460 (GRCm39)	missense	probably damaging	1.00
R4599:Dpp6	UTSW	5	27,839,546 (GRCm39)	missense	probably damaging	1.00
R4736:Dpp6	UTSW	5	27,917,657 (GRCm39)	missense	probably damaging	1.00
R4929:Dpp6	UTSW	5	27,254,785 (GRCm39)	missense	probably benign	0.25
R4967:Dpp6	UTSW	5	27,871,509 (GRCm39)	missense	probably damaging	1.00
R5162:Dpp6	UTSW	5	27,604,013 (GRCm39)	unclassified	probably benign
R5270:Dpp6	UTSW	5	27,839,532 (GRCm39)	missense	probably damaging	0.98
R5334:Dpp6	UTSW	5	27,914,538 (GRCm39)	missense	probably benign	0.30
R5437:Dpp6	UTSW	5	27,868,499 (GRCm39)	nonsense	probably null
R5663:Dpp6	UTSW	5	27,254,620 (GRCm39)	missense	possibly damaging	0.84
R6023:Dpp6	UTSW	5	27,928,545 (GRCm39)	missense	probably damaging	0.96
R6244:Dpp6	UTSW	5	27,254,626 (GRCm39)	missense	probably damaging	0.99
R6312:Dpp6	UTSW	5	27,930,669 (GRCm39)	missense	possibly damaging	0.84
R6942:Dpp6	UTSW	5	27,674,457 (GRCm39)	missense	possibly damaging	0.79
R6956:Dpp6	UTSW	5	27,803,819 (GRCm39)	missense	probably damaging	1.00
R7210:Dpp6	UTSW	5	27,803,801 (GRCm39)	missense	probably damaging	0.99
R7342:Dpp6	UTSW	5	27,919,552 (GRCm39)	missense	probably benign
R7702:Dpp6	UTSW	5	27,857,274 (GRCm39)	missense	probably benign	0.00
R7727:Dpp6	UTSW	5	27,656,242 (GRCm39)	missense	probably benign	0.30
R7899:Dpp6	UTSW	5	27,926,077 (GRCm39)	missense	probably benign	0.03
R7966:Dpp6	UTSW	5	27,928,370 (GRCm39)	missense	probably benign	0.06
R8015:Dpp6	UTSW	5	27,022,808 (GRCm39)	start gained	probably benign
R8084:Dpp6	UTSW	5	27,836,397 (GRCm39)	missense	probably benign	0.32
R8178:Dpp6	UTSW	5	27,803,815 (GRCm39)	missense	probably damaging	1.00
R8384:Dpp6	UTSW	5	27,923,472 (GRCm39)	missense	probably benign	0.18
R8816:Dpp6	UTSW	5	27,930,711 (GRCm39)	missense	probably benign	0.07
R8936:Dpp6	UTSW	5	27,926,140 (GRCm39)	missense	probably damaging	1.00
R9090:Dpp6	UTSW	5	27,803,832 (GRCm39)	nonsense	probably null
R9164:Dpp6	UTSW	5	27,656,286 (GRCm39)	splice site	probably null
R9271:Dpp6	UTSW	5	27,803,832 (GRCm39)	nonsense	probably null
R9310:Dpp6	UTSW	5	27,930,642 (GRCm39)	missense	probably benign	0.11
R9310:Dpp6	UTSW	5	27,836,439 (GRCm39)	missense	probably damaging	0.97
R9320:Dpp6	UTSW	5	27,868,521 (GRCm39)	critical splice donor site	probably null
R9667:Dpp6	UTSW	5	27,930,604 (GRCm39)	missense	probably damaging	1.00
R9761:Dpp6	UTSW	5	27,869,743 (GRCm39)	missense	probably benign	0.38
Z1176:Dpp6	UTSW	5	27,603,996 (GRCm39)	missense	probably damaging	1.00
Z1177:Dpp6	UTSW	5	27,917,640 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGCACCTGGAAATTCCCC -3'
(R):5'- CAAGGACCTGGCCTATTTCC -3'

Sequencing Primer
(F):5'- CCTCACAAGGGTGCTATTGC -3'
(R):5'- CCTCCTTTCAGGTCATGTGACAAAG -3'

Posted On

2018-05-24