Mutagenetix > Incidental Mutation

Incidental Mutation 'R1177:Dpp6'

100044

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

039249-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1177 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27022355-27932498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27868471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 478 (D478G)

Ref Sequence

ENSEMBL: ENSMUSP00000113441 (fasta)

Gene Model

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

AlphaFold

Q9Z218

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071500
AA Change: D423G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: D423G

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

possibly damaging
Transcript: ENSMUST00000101471
AA Change: D422G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: D422G

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

possibly damaging
Transcript: ENSMUST00000120555
AA Change: D420G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: D420G

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

possibly damaging
Transcript: ENSMUST00000122171
AA Change: D478G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: D478G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134175

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 94.9%
20x: 87.7%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs7	A	T	3: 36,664,329 (GRCm39)		probably null	Het
Bivm	G	A	1: 44,182,123 (GRCm39)	V444I	probably benign	Het
Cers4	A	G	8: 4,566,931 (GRCm39)	I78V	probably null	Het
Chgb	A	G	2: 132,635,390 (GRCm39)	Y444C	possibly damaging	Het
Col7a1	T	C	9: 108,791,509 (GRCm39)	V1161A	unknown	Het
Eif4enif1	T	C	11: 3,179,902 (GRCm39)	V274A	probably damaging	Het
Fkrp	T	C	7: 16,544,452 (GRCm39)	E470G	probably damaging	Het
Lrrc8c	T	C	5: 105,754,702 (GRCm39)	I159T	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Map3k21	A	T	8: 126,671,577 (GRCm39)	Q955L	probably benign	Het
Mast3	A	G	8: 71,232,968 (GRCm39)	S1115P	probably damaging	Het
Mga	T	C	2: 119,756,927 (GRCm39)	F1048S	probably damaging	Het
Mthfd1l	A	C	10: 3,935,661 (GRCm39)	K212T	possibly damaging	Het
Myo5b	G	A	18: 74,777,143 (GRCm39)	R401H	probably damaging	Het
Naip1	C	T	13: 100,563,572 (GRCm39)	S531N	possibly damaging	Het
Nlrp1a	A	G	11: 70,998,547 (GRCm39)	V884A	probably damaging	Het
Nop58	T	A	1: 59,740,091 (GRCm39)	M161K	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup210l	A	G	3: 90,109,310 (GRCm39)	T1618A	probably benign	Het
Or10d4	A	G	9: 39,580,937 (GRCm39)	R195G	probably benign	Het
Or2b4	A	T	17: 38,116,843 (GRCm39)	E269V	probably benign	Het
Or4c105	A	G	2: 88,647,704 (GRCm39)	Y63C	probably benign	Het
Ppp4r4	G	A	12: 103,542,582 (GRCm39)	A115T	possibly damaging	Het
Rag1	T	C	2: 101,472,623 (GRCm39)	R840G	probably benign	Het
Slc44a2	A	T	9: 21,259,879 (GRCm39)	Q629L	probably benign	Het
Slc5a6	A	G	5: 31,196,646 (GRCm39)		probably null	Het
Spag1	A	T	15: 36,234,913 (GRCm39)	T859S	probably benign	Het
Sv2c	G	T	13: 96,126,271 (GRCm39)	A327E	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tlr2	A	G	3: 83,746,041 (GRCm39)	I14T	probably benign	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Wdr90	A	G	17: 26,065,028 (GRCm39)	V1688A	possibly damaging	Het
Zfhx4	ACCTCCTCCTCCTCCTCCTCC	ACCTCCTCCTCCTCCTCC	3: 5,465,891 (GRCm39)		probably benign	Het
Zfp94	T	C	7: 24,002,953 (GRCm39)	Y163C	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
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
R6442:Dpp6	UTSW	5	27,923,507 (GRCm39)	critical splice donor site	probably null
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

Posted On

2014-01-15