Mutagenetix > Incidental Mutation

Incidental Mutation 'R5852:Anpep'

454720

Institutional Source

Beutler Lab

Gene Symbol

Anpep

Ensembl Gene

ENSMUSG00000039062

Gene Name

alanyl (membrane) aminopeptidase

Synonyms

aminopeptidase N, Cd13, Apn

MMRRC Submission

043227-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79821803-79861059 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 79838972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 402 (W402*)

Ref Sequence

ENSEMBL: ENSMUSP00000103015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049004] [ENSMUST00000107392] [ENSMUST00000205502] [ENSMUST00000206235]

AlphaFold

P97449

Predicted Effect

probably null
Transcript: ENSMUST00000049004
AA Change: W402*

SMART Domains

Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: W402*

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	44	64	N/A	INTRINSIC
Pfam:Peptidase_M1	75	479	6.3e-142	PFAM
Pfam:Peptidase_MA_2	355	502	1.4e-21	PFAM
Pfam:ERAP1_C	618	944	2.9e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107392
AA Change: W402*

SMART Domains

Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: W402*

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	44	64	N/A	INTRINSIC
Pfam:Peptidase_M1	75	479	2.5e-139	PFAM
Pfam:ERAP1_C	618	943	2e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149164

Predicted Effect

probably benign
Transcript: ENSMUST00000205502

Predicted Effect

probably benign
Transcript: ENSMUST00000206235

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for different knock-out alleles exhibit an increase in CD4+ thymocytes, altered macrophage adhesion, pathological neovascularization and/or altered mammary gland morphology during gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,927,404 (GRCm38)	I453F	probably damaging	Het
Apcdd1	T	C	18: 62,937,063 (GRCm38)	S134P	probably damaging	Het
Cbwd1	A	G	19: 24,955,405 (GRCm38)	V88A	possibly damaging	Het
Ccdc154	T	C	17: 25,163,209 (GRCm38)	V34A	probably benign	Het
Cntn3	A	T	6: 102,420,416 (GRCm38)	N65K	probably damaging	Het
Cntn6	G	T	6: 104,835,745 (GRCm38)	V663F	probably damaging	Het
Crisp3	A	T	17: 40,225,820 (GRCm38)	C201*	probably null	Het
Dnhd1	T	A	7: 105,695,748 (GRCm38)	W2100R	probably damaging	Het
Dync2h1	A	T	9: 7,011,290 (GRCm38)	S3634R	probably benign	Het
Fam189a1	T	A	7: 64,775,831 (GRCm38)	H171L	probably damaging	Het
Gucy1a2	T	C	9: 3,865,460 (GRCm38)	F645L	probably damaging	Het
Hs6st3	G	T	14: 119,869,326 (GRCm38)	R382L	probably damaging	Het
Il27	T	A	7: 126,592,614 (GRCm38)	T89S	possibly damaging	Het
Iqgap2	C	T	13: 95,675,372 (GRCm38)	R707H	probably damaging	Het
Klhl23	T	A	2: 69,824,269 (GRCm38)	I161N	probably benign	Het
Lrrk2	G	A	15: 91,755,949 (GRCm38)	E1566K	probably damaging	Het
Mia3	A	G	1: 183,332,859 (GRCm38)	V437A	probably benign	Het
Ncoa6	G	T	2: 155,405,499 (GRCm38)	H1962N	possibly damaging	Het
Nox4	C	T	7: 87,338,964 (GRCm38)	T361I	probably damaging	Het
Pappa2	T	C	1: 158,717,014 (GRCm38)	Y1748C	probably damaging	Het
Phyhip	T	C	14: 70,461,929 (GRCm38)		probably null	Het
Pkhd1	A	G	1: 20,377,408 (GRCm38)	F2254L	probably benign	Het
Plxnb1	A	G	9: 109,106,450 (GRCm38)	Y1018C	probably damaging	Het
Pnoc	C	T	14: 65,411,222 (GRCm38)	V8I	probably benign	Het
Prss29	A	G	17: 25,322,434 (GRCm38)	D256G	probably benign	Het
Scrn3	T	C	2: 73,331,005 (GRCm38)	F312L	probably damaging	Het
Sephs1	A	G	2: 4,899,528 (GRCm38)	E239G	possibly damaging	Het
Tti1	A	G	2: 158,000,673 (GRCm38)	L812P	probably damaging	Het
Wdr1	A	G	5: 38,537,175 (GRCm38)	S62P	probably benign	Het
Zfp106	A	G	2: 120,516,006 (GRCm38)	S1659P	probably damaging	Het

Other mutations in Anpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Anpep	APN	7	79,825,736 (GRCm38)	missense	possibly damaging	0.64
IGL00089:Anpep	APN	7	79,841,986 (GRCm38)	missense	probably damaging	1.00
IGL00767:Anpep	APN	7	79,840,890 (GRCm38)	missense	probably benign	0.00
IGL00901:Anpep	APN	7	79,839,423 (GRCm38)	missense	probably benign
IGL01919:Anpep	APN	7	79,825,350 (GRCm38)	missense	possibly damaging	0.77
IGL02049:Anpep	APN	7	79,835,181 (GRCm38)	missense	probably damaging	0.97
IGL02195:Anpep	APN	7	79,826,685 (GRCm38)	missense	probably damaging	1.00
IGL02210:Anpep	APN	7	79,826,904 (GRCm38)	missense	probably benign	0.00
IGL02584:Anpep	APN	7	79,825,393 (GRCm38)	splice site	probably benign
IGL02677:Anpep	APN	7	79,838,730 (GRCm38)	missense	probably damaging	1.00
IGL03073:Anpep	APN	7	79,838,955 (GRCm38)	missense	probably damaging	1.00
IGL03100:Anpep	APN	7	79,836,361 (GRCm38)	missense	probably benign	0.01
PIT4696001:Anpep	UTSW	7	79,839,464 (GRCm38)	missense	possibly damaging	0.85
R0329:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R0330:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R0619:Anpep	UTSW	7	79,841,009 (GRCm38)	missense	probably benign
R0691:Anpep	UTSW	7	79,839,299 (GRCm38)	missense	probably damaging	0.98
R1004:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1005:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1274:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1288:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1289:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1532:Anpep	UTSW	7	79,826,948 (GRCm38)	nonsense	probably null
R1540:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1574:Anpep	UTSW	7	79,838,407 (GRCm38)	splice site	probably null
R1574:Anpep	UTSW	7	79,838,407 (GRCm38)	splice site	probably null
R1618:Anpep	UTSW	7	79,835,417 (GRCm38)	missense	probably benign	0.00
R1627:Anpep	UTSW	7	79,842,011 (GRCm38)	missense	probably benign
R1693:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1717:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1745:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1746:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1748:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1809:Anpep	UTSW	7	79,841,823 (GRCm38)	missense	probably benign	0.01
R1901:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1902:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1903:Anpep	UTSW	7	79,838,256 (GRCm38)	missense	probably benign	0.01
R1985:Anpep	UTSW	7	79,840,857 (GRCm38)	splice site	probably null
R2379:Anpep	UTSW	7	79,841,218 (GRCm38)	missense	probably benign	0.28
R2508:Anpep	UTSW	7	79,838,291 (GRCm38)	missense	possibly damaging	0.80
R3110:Anpep	UTSW	7	79,841,972 (GRCm38)	missense	probably benign	0.15
R3112:Anpep	UTSW	7	79,841,972 (GRCm38)	missense	probably benign	0.15
R3898:Anpep	UTSW	7	79,839,225 (GRCm38)	missense	probably benign	0.07
R3899:Anpep	UTSW	7	79,839,225 (GRCm38)	missense	probably benign	0.07
R3900:Anpep	UTSW	7	79,839,225 (GRCm38)	missense	probably benign	0.07
R4211:Anpep	UTSW	7	79,840,996 (GRCm38)	nonsense	probably null
R4701:Anpep	UTSW	7	79,839,465 (GRCm38)	missense	probably benign	0.16
R4716:Anpep	UTSW	7	79,826,632 (GRCm38)	missense	probably benign	0.00
R5020:Anpep	UTSW	7	79,833,727 (GRCm38)	missense	probably benign
R5042:Anpep	UTSW	7	79,839,469 (GRCm38)	missense	probably benign	0.00
R5084:Anpep	UTSW	7	79,826,870 (GRCm38)	critical splice donor site	probably null
R5319:Anpep	UTSW	7	79,841,731 (GRCm38)	missense	probably benign
R5593:Anpep	UTSW	7	79,842,046 (GRCm38)	missense	probably benign	0.04
R5778:Anpep	UTSW	7	79,836,391 (GRCm38)	missense	probably benign	0.00
R5906:Anpep	UTSW	7	79,833,675 (GRCm38)	missense	probably benign
R6164:Anpep	UTSW	7	79,842,205 (GRCm38)	missense	possibly damaging	0.68
R6254:Anpep	UTSW	7	79,839,233 (GRCm38)	missense	probably damaging	1.00
R6284:Anpep	UTSW	7	79,825,802 (GRCm38)	missense	probably damaging	1.00
R6380:Anpep	UTSW	7	79,841,896 (GRCm38)	missense	probably benign	0.04
R6594:Anpep	UTSW	7	79,841,361 (GRCm38)	splice site	probably null
R6746:Anpep	UTSW	7	79,839,185 (GRCm38)	splice site	probably null
R6920:Anpep	UTSW	7	79,825,349 (GRCm38)	missense	probably damaging	1.00
R7060:Anpep	UTSW	7	79,841,794 (GRCm38)	missense	probably benign	0.33
R7072:Anpep	UTSW	7	79,835,379 (GRCm38)	missense	possibly damaging	0.58
R7095:Anpep	UTSW	7	79,842,202 (GRCm38)	missense	possibly damaging	0.87
R7102:Anpep	UTSW	7	79,836,313 (GRCm38)	missense	probably benign	0.00
R7178:Anpep	UTSW	7	79,840,988 (GRCm38)	missense	probably benign
R7223:Anpep	UTSW	7	79,825,310 (GRCm38)	missense	probably damaging	1.00
R7344:Anpep	UTSW	7	79,838,650 (GRCm38)	missense	possibly damaging	0.60
R7441:Anpep	UTSW	7	79,827,644 (GRCm38)	missense	possibly damaging	0.93
R7479:Anpep	UTSW	7	79,835,370 (GRCm38)	missense	probably benign	0.11
R7503:Anpep	UTSW	7	79,826,637 (GRCm38)	missense	probably damaging	1.00
R7683:Anpep	UTSW	7	79,839,198 (GRCm38)	missense	probably damaging	0.98
R7912:Anpep	UTSW	7	79,838,426 (GRCm38)	missense	probably benign	0.00
R7935:Anpep	UTSW	7	79,826,961 (GRCm38)	missense	possibly damaging	0.46
R8036:Anpep	UTSW	7	79,841,898 (GRCm38)	missense	probably benign	0.11
R8039:Anpep	UTSW	7	79,839,400 (GRCm38)	critical splice donor site	probably null
R8470:Anpep	UTSW	7	79,839,521 (GRCm38)	missense	probably benign	0.16
R8549:Anpep	UTSW	7	79,840,896 (GRCm38)	missense	probably benign	0.00
R8723:Anpep	UTSW	7	79,838,938 (GRCm38)	missense	probably damaging	1.00
R8726:Anpep	UTSW	7	79,840,893 (GRCm38)	missense	probably benign	0.00
R9042:Anpep	UTSW	7	79,838,762 (GRCm38)	missense	probably damaging	0.99
R9151:Anpep	UTSW	7	79,842,037 (GRCm38)	missense	probably benign	0.31
R9200:Anpep	UTSW	7	79,841,122 (GRCm38)	missense	probably benign	0.00
R9216:Anpep	UTSW	7	79,836,301 (GRCm38)	missense	possibly damaging	0.49
R9570:Anpep	UTSW	7	79,826,913 (GRCm38)	missense	probably benign	0.00
R9769:Anpep	UTSW	7	79,838,730 (GRCm38)	missense	probably damaging	1.00
Z1176:Anpep	UTSW	7	79,827,639 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGATGCCATCAGGAGCTCAG -3'
(R):5'- CTCCTCCATTAGCAACAAGGAG -3'

Sequencing Primer
(F):5'- CTCAGAAGGGGTGTGTCAC -3'
(R):5'- TCACGAGCTGGCCCATCAG -3'

Posted On

2017-02-10