Mutagenetix > Incidental Mutation

Incidental Mutation 'I0000:Dpp6'

7852

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

Accession Numbers

Essential gene?

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

Stock #

I0000 (G3) of strain 635

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27022355-27932498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27603920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 62 (T62S)

Ref Sequence

ENSEMBL: ENSMUSP00000071435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171] [ENSMUST00000148039]

AlphaFold

Q9Z218

Predicted Effect

probably benign
Transcript: ENSMUST00000071500
AA Change: T62S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: T62S

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: T61S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: T61S

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: T59S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: T59S

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: T117S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: T117S

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: ENSMUST00000136574

Predicted Effect

probably benign
Transcript: ENSMUST00000148039

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.9%
3x: 86.6%

Validation Efficiency

67% (62/92)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,376,716 (GRCm39)	V1933A	probably damaging	Het
Acsm4	T	A	7: 119,310,415 (GRCm39)	F467I	probably damaging	Het
Ankrd55	A	T	13: 112,485,259 (GRCm39)		probably benign	Het
Bfsp1	T	C	2: 143,687,888 (GRCm39)	Y179C	probably damaging	Het
Ccdc61	A	G	7: 18,637,474 (GRCm39)	I51T	probably damaging	Het
Ccdc81	A	G	7: 89,547,259 (GRCm39)	L43P	probably damaging	Het
Ddias	A	G	7: 92,515,848 (GRCm39)	V15A	possibly damaging	Het
Ereg	G	A	5: 91,237,068 (GRCm39)	C129Y	probably benign	Het
Fras1	G	A	5: 96,888,688 (GRCm39)	G2745S	probably damaging	Het
Gzf1	C	T	2: 148,528,540 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,786,477 (GRCm39)		probably benign	Het
Hsd17b4	A	G	18: 50,293,295 (GRCm39)	D278G	probably benign	Homo
Ifitm3	A	G	7: 140,590,441 (GRCm39)	S40P	possibly damaging	Het
Klf5	C	T	14: 99,540,911 (GRCm39)	T307M	probably damaging	Homo
Lnpep	A	T	17: 17,799,233 (GRCm39)	C141S	probably damaging	Homo
Mmp19	A	T	10: 128,634,329 (GRCm39)	D362V	probably benign	Het
Or4a72	T	C	2: 89,405,497 (GRCm39)	Y191C	probably damaging	Het
Pnpla6	G	A	8: 3,592,322 (GRCm39)	A1222T	probably benign	Het
Rbm26	C	A	14: 105,391,003 (GRCm39)	R161L	unknown	Homo
Selenon	G	A	4: 134,270,012 (GRCm39)		probably benign	Het
Septin11	A	G	5: 93,313,118 (GRCm39)	T322A	probably benign	Het
Sh3bp4	T	A	1: 89,065,518 (GRCm39)	D37E	probably benign	Het
Tango2	G	A	16: 18,130,530 (GRCm39)	R80W	possibly damaging	Homo
Tjap1	C	T	17: 46,569,955 (GRCm39)	C345Y	probably damaging	Homo
Wdr62	T	C	7: 29,944,752 (GRCm39)	D455G	probably benign	Het
Zbtb48	A	G	4: 152,104,315 (GRCm39)	I671T	probably benign	Het
Zfp318	T	C	17: 46,710,485 (GRCm39)	L736P	probably damaging	Homo

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
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
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

Posted On

2012-11-05