Mutagenetix > Incidental Mutation

Incidental Mutation 'R8384:Dpp6'

647070

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

067750-MU

Accession Numbers

Essential gene?

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

Stock #

R8384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27022355-27932498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27923472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 694 (Y694F)

Ref Sequence

ENSEMBL: ENSMUSP00000113441 (fasta)

Gene Model

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

AlphaFold

Q9Z218

Predicted Effect

probably benign
Transcript: ENSMUST00000071500
AA Change: Y639F

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576
AA Change: Y639F

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: Y638F

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576
AA Change: Y638F

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: Y636F

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576
AA Change: Y636F

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: Y694F

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576
AA Change: Y694F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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
4933427D14Rik	T	C	11: 72,057,591 (GRCm39)	D736G	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Col6a6	C	T	9: 105,632,893 (GRCm39)	G1457D	probably damaging	Het
Colec11	A	T	12: 28,644,658 (GRCm39)	*279R	probably null	Het
Ctnnbl1	A	T	2: 157,659,980 (GRCm39)	E278V	probably benign	Het
Cyp24a1	A	G	2: 170,328,689 (GRCm39)		probably null	Het
Eif5	A	G	12: 111,506,239 (GRCm39)	E26G	possibly damaging	Het
Fhdc1	T	C	3: 84,362,306 (GRCm39)	I305V	possibly damaging	Het
Flvcr2	T	C	12: 85,842,967 (GRCm39)	F347S	possibly damaging	Het
Hacl1	A	G	14: 31,356,154 (GRCm39)		probably null	Het
Hells	A	G	19: 38,947,566 (GRCm39)	T667A	probably benign	Het
Idua	A	G	5: 108,829,305 (GRCm39)	T416A	possibly damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lnx2	G	A	5: 146,966,138 (GRCm39)	A327V	probably benign	Het
Macir	A	G	1: 97,573,655 (GRCm39)	C137R	possibly damaging	Het
Mdn1	T	C	4: 32,765,680 (GRCm39)	V5220A	probably benign	Het
Mpst	T	A	15: 78,297,775 (GRCm39)	C264*	probably null	Het
Msh5	A	G	17: 35,249,613 (GRCm39)	L644P	probably damaging	Het
Myo5b	A	G	18: 74,875,273 (GRCm39)	Y1533C	probably damaging	Het
Naa38	A	G	11: 69,286,752 (GRCm39)	E12G	probably benign	Het
Obscn	C	A	11: 58,975,935 (GRCm39)	C2064F	probably damaging	Het
Or5p51	A	T	7: 107,444,465 (GRCm39)	N158K	possibly damaging	Het
Or6c6	A	T	10: 129,186,695 (GRCm39)	K88*	probably null	Het
Pam16l	A	T	10: 43,400,347 (GRCm39)	I34F	probably damaging	Het
Ralgds	G	T	2: 28,437,182 (GRCm39)	A534S	probably damaging	Het
Rgs22	A	T	15: 36,046,158 (GRCm39)		probably null	Het
Serpinb3c	T	C	1: 107,199,697 (GRCm39)	T275A	probably benign	Het
Slc7a13	T	C	4: 19,823,984 (GRCm39)	V251A	probably damaging	Het
Snx14	C	A	9: 88,285,333 (GRCm39)	E444*	probably null	Het
Sspo	G	T	6: 48,459,598 (GRCm39)	W3319L	probably damaging	Het
Ugt2b5	A	G	5: 87,287,924 (GRCm39)	V81A	probably benign	Het
Usp6nl	A	G	2: 6,432,604 (GRCm39)	I326V	possibly damaging	Het
Zcchc17	T	C	4: 130,210,526 (GRCm39)	K214E	possibly damaging	Het
Zfp638	C	A	6: 83,956,747 (GRCm39)	H1785N	probably benign	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
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
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'- CCTCACAAGGGTGCTATTGC -3'
(R):5'- TAACTCTTCCCCACAAAGCTGTAG -3'

Sequencing Primer
(F):5'- CGAGTGTAAATATACTGTGAGTGCC -3'
(R):5'- AAAGCTGTAGTCACTAATCTCTCC -3'

Posted On

2020-09-02