Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Dnpep'

457144

Institutional Source

Beutler Lab

Gene Symbol

Dnpep

Ensembl Gene

ENSMUSG00000026209

Gene Name

aspartyl aminopeptidase

Synonyms

MMRRC Submission

044092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75285209-75294298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75288456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 395 (Q395K)

Ref Sequence

ENSEMBL: ENSMUSP00000139739 (fasta)

Gene Model

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

AlphaFold

Q9Z2W0

Predicted Effect

probably benign
Transcript: ENSMUST00000066668
AA Change: Q395K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: Q395K

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

probably benign
Transcript: ENSMUST00000113605
AA Change: Q395K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: Q395K

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: Q395K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: Q395K

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 benign
Transcript: ENSMUST00000185797
AA Change: Q397K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: Q397K

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 benign
Transcript: ENSMUST00000187000

SMART Domains

Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209

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

probably benign
Transcript: ENSMUST00000187836
AA Change: Q395K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: Q395K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187791

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

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: 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: ENSMUST00000188652

SMART Domains

Protein: ENSMUSP00000139532
Gene: ENSMUSG00000026209

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,426,496 (GRCm39)	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,589,623 (GRCm39)	R387L	possibly damaging	Het
Adgb	G	A	10: 10,253,591 (GRCm39)	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,225,689 (GRCm39)	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,387,136 (GRCm39)	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,536,975 (GRCm39)	E69D	possibly damaging	Het
Atm	T	C	9: 53,408,459 (GRCm39)	T1129A	probably benign	Het
Atosa	C	G	9: 74,911,668 (GRCm39)	C46W	probably damaging	Het
AU021092	T	C	16: 5,029,995 (GRCm39)	D340G	probably benign	Het
Baz2a	T	A	10: 127,957,191 (GRCm39)	I978N	probably damaging	Het
BC034090	T	C	1: 155,108,793 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,116,204 (GRCm39)	L830P	probably damaging	Het
Bicral	T	C	17: 47,112,155 (GRCm39)	N1015S	probably benign	Het
Ccdc9b	T	A	2: 118,591,864 (GRCm39)	D92V	probably damaging	Het
Ceacam3	C	A	7: 16,885,718 (GRCm39)	T107N	probably damaging	Het
Cep83	T	C	10: 94,561,537 (GRCm39)	V109A	probably benign	Het
Ces1e	A	G	8: 93,929,894 (GRCm39)	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,089,054 (GRCm39)	V55A	probably benign	Het
Col19a1	T	C	1: 24,328,806 (GRCm39)	E900G	probably damaging	Het
Commd3	A	G	2: 18,678,626 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,872 (GRCm39)	I157T	probably damaging	Het
Cplane1	A	G	15: 8,218,073 (GRCm39)	I828V	probably benign	Het
Ctso	T	A	3: 81,861,561 (GRCm39)	F311L	probably benign	Het
Cxcl10	A	G	5: 92,496,083 (GRCm39)		probably benign	Het
Daam1	C	A	12: 71,990,923 (GRCm39)	T179N	unknown	Het
Ddx24	T	C	12: 103,390,317 (GRCm39)	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,502,703 (GRCm39)	T278A	probably benign	Het
Dnajc2	A	T	5: 21,966,709 (GRCm39)	N345K	possibly damaging	Het
Dync1h1	T	C	12: 110,580,654 (GRCm39)		probably null	Het
Exoc1	A	G	5: 76,689,991 (GRCm39)	D177G	probably damaging	Het
Fam135b	C	T	15: 71,397,652 (GRCm39)	R136H	probably damaging	Het
Filip1	T	G	9: 79,727,142 (GRCm39)	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,843,002 (GRCm39)	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,684,425 (GRCm39)	W366R	probably damaging	Het
Htt	A	G	5: 35,028,167 (GRCm39)	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,561,249 (GRCm39)	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,337,674 (GRCm39)	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,424 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 65,025,854 (GRCm39)		probably null	Het
Klkb1	T	A	8: 45,723,703 (GRCm39)	T571S	probably benign	Het
Mapkbp1	G	T	2: 119,854,413 (GRCm39)	E1337*	probably null	Het
Met	A	G	6: 17,491,538 (GRCm39)	D100G	probably benign	Het
Mgam	T	A	6: 40,721,282 (GRCm39)	D183E	probably benign	Het
Mrgprb13	T	C	7: 47,962,007 (GRCm39)		noncoding transcript	Het
Mrgprx2	T	C	7: 48,131,994 (GRCm39)	T275A	probably benign	Het
Mroh2a	C	A	1: 88,169,337 (GRCm39)	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,685,808 (GRCm39)	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,267,933 (GRCm39)		probably benign	Het
Or12j2	C	T	7: 139,916,513 (GRCm39)	T246I	probably benign	Het
Or12k8	T	A	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or4k47	A	T	2: 111,451,778 (GRCm39)	L214M	probably damaging	Het
Or5p5	C	T	7: 107,414,387 (GRCm39)	P199S	probably damaging	Het
Otoa	T	A	7: 120,731,583 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,020,571 (GRCm39)	C233*	probably null	Het
Pikfyve	A	G	1: 65,241,896 (GRCm39)	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,412,756 (GRCm39)	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,418,274 (GRCm39)		probably benign	Het
Rab6a	T	A	7: 100,288,454 (GRCm39)		probably null	Het
Rbm11	C	T	16: 75,395,725 (GRCm39)	A132V	possibly damaging	Het
Septin4	G	T	11: 87,479,750 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,575 (GRCm39)	E210G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slco5a1	A	G	1: 13,060,626 (GRCm39)	F32L	probably benign	Het
Smad2	A	G	18: 76,433,046 (GRCm39)	E326G	probably damaging	Het
Sp9	T	A	2: 73,104,595 (GRCm39)	L383Q	probably damaging	Het
Stx11	T	C	10: 12,817,559 (GRCm39)	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,056,213 (GRCm39)	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,614,034 (GRCm39)		probably benign	Het
Tdrd9	T	A	12: 112,009,153 (GRCm39)	S1020T	probably damaging	Het
Tead3	A	T	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,800,926 (GRCm39)	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,725,171 (GRCm39)	D268E	probably damaging	Het
Ttn	A	G	2: 76,576,085 (GRCm39)	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,135,937 (GRCm39)	Y908*	probably null	Het
Urb2	G	T	8: 124,757,595 (GRCm39)	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535 (GRCm39)	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838 (GRCm39)	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het
Zfp518a	T	A	19: 40,900,877 (GRCm39)	C269S	probably damaging	Het
Zfp933	T	C	4: 147,911,231 (GRCm39)	K90E	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
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
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'- AAGCCAGCACTGCATCTAGC -3'
(R):5'- TCTCACAGGGACAAGCATGAAG -3'

Sequencing Primer
(F):5'- AGCACTGCATCTAGCTCTGCAC -3'
(R):5'- CCATAAGGTAAGATGCTGCTTCTC -3'

Posted On

2017-02-15