Mutagenetix > Incidental Mutation

Incidental Mutation 'R3409:Dnpep'

258395

Institutional Source

Beutler Lab

Gene Symbol

Dnpep

Ensembl Gene

ENSMUSG00000026209

Gene Name

aspartyl aminopeptidase

Synonyms

MMRRC Submission

040627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75285209-75294298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75293270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 33 (V33A)

Ref Sequence

ENSEMBL: ENSMUSP00000139532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066668] [ENSMUST00000113605] [ENSMUST00000185419] [ENSMUST00000185797] [ENSMUST00000187000] [ENSMUST00000187075] [ENSMUST00000189282] [ENSMUST00000188652] [ENSMUST00000189551] [ENSMUST00000191254] [ENSMUST00000187836]

AlphaFold

Q9Z2W0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066668
AA Change: V33A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	460	2.9e-199	PFAM
Pfam:Peptidase_M42	328	455	1.2e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113605
AA Change: V33A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	460	9.4e-194	PFAM
Pfam:Peptidase_M42	328	455	1.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185419
AA Change: V33A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	459	7.3e-192	PFAM
Pfam:Peptidase_M42	328	455	1.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185797
AA Change: V35A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: V35A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	24	462	2e-190	PFAM
Pfam:Peptidase_M42	330	457	1.9e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186278

Predicted Effect

probably damaging
Transcript: ENSMUST00000187000
AA Change: V33A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	271	2.9e-102	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187075
AA Change: V33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	222	1.1e-80	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189282
AA Change: V33A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141187
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	57	1.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187791

Predicted Effect

probably damaging
Transcript: ENSMUST00000188652
AA Change: V33A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139532
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	85	4.4e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189551
AA Change: V33A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	198	6.4e-75	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191254
AA Change: V35A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140997
Gene: ENSMUSG00000026209
AA Change: V35A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	24	64	8.8e-11	PFAM
Pfam:Peptidase_M18	60	92	3.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187836
AA Change: V33A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: V33A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	460	9.4e-194	PFAM
Pfam:Peptidase_M42	328	455	1.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190005

Meta Mutation Damage Score

0.6797

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
AI429214	C	T	8: 37,461,071 (GRCm39)	S73L	probably benign	Het
Atp13a4	G	T	16: 29,232,567 (GRCm39)	T923K	probably damaging	Het
Ccdc150	A	G	1: 54,395,932 (GRCm39)	D805G	probably benign	Het
Ccdc185	T	G	1: 182,576,313 (GRCm39)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Cpsf1	G	T	15: 76,485,981 (GRCm39)	Y396*	probably null	Het
Fbn1	G	A	2: 125,254,585 (GRCm39)	A226V	possibly damaging	Het
Frmd4a	A	T	2: 4,157,839 (GRCm39)		probably benign	Het
Gipr	A	G	7: 18,893,719 (GRCm39)	V318A	possibly damaging	Het
Gsdmc4	A	G	15: 63,763,895 (GRCm39)	S401P	probably benign	Het
H2-M10.6	T	A	17: 37,124,893 (GRCm39)	V270E	probably damaging	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Krt10	C	A	11: 99,278,087 (GRCm39)	R322L	probably damaging	Het
Lrrn4	A	G	2: 132,721,781 (GRCm39)	L12P	unknown	Het
Mast2	C	G	4: 116,168,107 (GRCm39)	E881Q	possibly damaging	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Notch3	C	T	17: 32,369,676 (GRCm39)	V772M	possibly damaging	Het
Nrxn1	G	A	17: 90,515,795 (GRCm39)	T19M	probably damaging	Het
Nudcd1	T	C	15: 44,284,207 (GRCm39)	M60V	probably benign	Het
Or10g1	T	A	14: 52,647,818 (GRCm39)	R170S	possibly damaging	Het
Or4c1	A	G	2: 89,133,717 (GRCm39)	F73S	probably benign	Het
Or4c115	T	C	2: 88,927,668 (GRCm39)	N201S	possibly damaging	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5w8	T	A	2: 87,688,005 (GRCm39)	L162*	probably null	Het
Or8c9	T	A	9: 38,241,640 (GRCm39)	S252R	possibly damaging	Het
Pcdhb6	A	G	18: 37,468,945 (GRCm39)	E622G	probably damaging	Het
Pitrm1	G	A	13: 6,628,517 (GRCm39)	A937T	possibly damaging	Het
Plxnb1	G	A	9: 108,935,681 (GRCm39)		probably null	Het
Ripk3	T	G	14: 56,025,698 (GRCm39)	N54T	probably damaging	Het
Rpn2	C	A	2: 157,132,572 (GRCm39)	A108E	possibly damaging	Het
Scaf11	A	G	15: 96,312,745 (GRCm39)	V1432A	probably damaging	Het
Sec14l5	C	T	16: 4,983,518 (GRCm39)		probably null	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Slc12a1	A	G	2: 124,996,071 (GRCm39)	T75A	probably benign	Het
Slc26a9	T	C	1: 131,691,682 (GRCm39)	S642P	probably benign	Het
Smu1	T	C	4: 40,752,008 (GRCm39)	T183A	probably benign	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm39)	N8S	probably damaging	Het
Tenm4	A	G	7: 96,544,367 (GRCm39)	T2128A	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm39)	M288K	probably benign	Het
Ubr1	A	C	2: 120,793,929 (GRCm39)	I85S	probably benign	Het
Vmn2r90	G	T	17: 17,953,638 (GRCm39)	V601L	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het

Other mutations in Dnpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:Dnpep	APN	1	75,292,332 (GRCm39)	missense	probably damaging	1.00
P0026:Dnpep	UTSW	1	75,285,329 (GRCm39)	missense	probably benign	0.01
R0126:Dnpep	UTSW	1	75,289,182 (GRCm39)	nonsense	probably null
R0318:Dnpep	UTSW	1	75,293,270 (GRCm39)	missense	probably damaging	1.00
R0669:Dnpep	UTSW	1	75,288,422 (GRCm39)	unclassified	probably benign
R1076:Dnpep	UTSW	1	75,292,582 (GRCm39)	unclassified	probably benign
R1478:Dnpep	UTSW	1	75,292,671 (GRCm39)	missense	probably damaging	1.00
R1803:Dnpep	UTSW	1	75,286,058 (GRCm39)	nonsense	probably null
R3411:Dnpep	UTSW	1	75,293,270 (GRCm39)	missense	probably damaging	1.00
R4590:Dnpep	UTSW	1	75,293,045 (GRCm39)	missense	probably damaging	1.00
R4863:Dnpep	UTSW	1	75,285,874 (GRCm39)	intron	probably benign
R4948:Dnpep	UTSW	1	75,293,404 (GRCm39)	missense	probably benign	0.13
R5873:Dnpep	UTSW	1	75,291,787 (GRCm39)	missense	probably damaging	1.00
R5891:Dnpep	UTSW	1	75,288,456 (GRCm39)	missense	probably benign
R5907:Dnpep	UTSW	1	75,288,635 (GRCm39)	critical splice donor site	probably null
R6143:Dnpep	UTSW	1	75,291,872 (GRCm39)	missense	probably damaging	1.00
R6432:Dnpep	UTSW	1	75,292,022 (GRCm39)	missense	probably benign	0.12
R6433:Dnpep	UTSW	1	75,292,022 (GRCm39)	missense	probably benign	0.12
R7188:Dnpep	UTSW	1	75,292,701 (GRCm39)	missense	probably damaging	1.00
R7189:Dnpep	UTSW	1	75,290,074 (GRCm39)	missense	probably damaging	1.00
R7620:Dnpep	UTSW	1	75,290,092 (GRCm39)	missense	probably benign	0.02
R7682:Dnpep	UTSW	1	75,293,384 (GRCm39)	missense	probably damaging	1.00
R7770:Dnpep	UTSW	1	75,293,890 (GRCm39)	intron	probably benign
R8214:Dnpep	UTSW	1	75,292,642 (GRCm39)	missense	probably damaging	1.00
R9051:Dnpep	UTSW	1	75,292,329 (GRCm39)	missense	probably damaging	1.00
R9055:Dnpep	UTSW	1	75,291,805 (GRCm39)	missense	possibly damaging	0.70
R9081:Dnpep	UTSW	1	75,291,060 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCATTGCCAGGAACATACTG -3'
(R):5'- TGTAGATGGCTATGAACGGCAG -3'

Sequencing Primer
(F):5'- GGAGGAGTTTCTGGTTAAGAAGTAC -3'
(R):5'- TATGAACGGCAGGGCTCG -3'

Posted On

2015-01-23