Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Dnpep'

688594

Institutional Source

Beutler Lab

Gene Symbol

Dnpep

Ensembl Gene

ENSMUSG00000026209

Gene Name

aspartyl aminopeptidase

Synonyms

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9055 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

75285209-75294298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75291805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 238 (M238K)

Ref Sequence

ENSEMBL: ENSMUSP00000140864 (fasta)

Gene Model

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

AlphaFold

Q9Z2W0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: M236K

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

SMART Domains

Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: M236K

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 benign
Transcript: ENSMUST00000185419
AA Change: M236K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: M236K

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

possibly damaging
Transcript: ENSMUST00000185797
AA Change: M238K

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: M238K

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

SMART Domains

Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: M236K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187075

SMART Domains

Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: M236K

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 benign
Transcript: ENSMUST00000188652

SMART Domains

Protein: ENSMUSP00000139532
Gene: ENSMUSG00000026209

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189282

SMART Domains

Protein: ENSMUSP00000141187
Gene: ENSMUSG00000026209

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189551

SMART Domains

Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191254

SMART Domains

Protein: ENSMUSP00000140997
Gene: ENSMUSG00000026209

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

Meta Mutation Damage Score

0.3906

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Adamts20	A	G	15: 94,181,867 (GRCm39)	Y1609H	probably damaging	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Ahsg	T	A	16: 22,711,069 (GRCm39)	W69R	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Irf1	T	A	11: 53,667,196 (GRCm39)	I305N	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Or8c13	T	C	9: 38,091,780 (GRCm39)	Y113C	probably damaging	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp276	T	C	8: 123,985,109 (GRCm39)	F356L	probably damaging	Het
Zfp398	G	T	6: 47,843,319 (GRCm39)	R457L	possibly damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	probably null	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
R3409:Dnpep	UTSW	1	75,293,270 (GRCm39)	missense	probably damaging	1.00
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
R9081:Dnpep	UTSW	1	75,291,060 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTCTCAGTAGGACGGTCTTC -3'
(R):5'- CACTGTAAGAAGCTCCCCTG -3'

Sequencing Primer
(F):5'- AGATGCTCTGCTTATCTGGGAACTAC -3'
(R):5'- GAAGCTCCCCTGGCCCG -3'

Posted On

2021-11-19