Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02584:Anpep'

299491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anpep

Ensembl Gene

ENSMUSG00000039062

Gene Name

alanyl aminopeptidase, membrane

Synonyms

aminopeptidase N, Apn, Cd13

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02584

Quality Score

Status

Chromosome

Chromosomal Location

79471551-79497958 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 79475141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145682 (fasta)

Gene Model

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

AlphaFold

P97449

Predicted Effect

probably benign
Transcript: ENSMUST00000049004

SMART Domains

Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062

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 benign
Transcript: ENSMUST00000107392

SMART Domains

Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062

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

probably benign
Transcript: ENSMUST00000205502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206682

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,744 (GRCm39)	Y22F	unknown	Het
Adgrb3	A	G	1: 25,544,065 (GRCm39)	L312P	probably damaging	Het
Arhgef6	T	G	X: 56,291,738 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,884,146 (GRCm39)	D989G	probably damaging	Het
Ccnj	T	A	19: 40,833,185 (GRCm39)	V121E	probably benign	Het
Cdyl	T	C	13: 35,867,769 (GRCm39)	L15P	probably benign	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Cryga	T	A	1: 65,142,175 (GRCm39)	S73C	probably benign	Het
Dennd4a	A	G	9: 64,758,580 (GRCm39)	T240A	probably damaging	Het
Eml6	A	G	11: 29,699,387 (GRCm39)	S1789P	probably damaging	Het
Esr2	A	T	12: 76,192,036 (GRCm39)	W331R	probably damaging	Het
Fbh1	A	T	2: 11,764,769 (GRCm39)	L455H	probably benign	Het
Gm21698	T	A	5: 26,192,391 (GRCm39)	E65V	probably damaging	Het
Grm8	G	T	6: 27,762,438 (GRCm39)	F262L	probably benign	Het
Haus3	A	T	5: 34,323,602 (GRCm39)	L336*	probably null	Het
Hfm1	A	C	5: 107,026,528 (GRCm39)		probably null	Het
Hgfac	T	C	5: 35,201,305 (GRCm39)		probably benign	Het
Ighv1-22	T	C	12: 114,709,942 (GRCm39)	E101G	probably benign	Het
Impg2	A	G	16: 56,085,374 (GRCm39)	E1027G	probably damaging	Het
Lypd5	A	T	7: 24,052,993 (GRCm39)	T217S	possibly damaging	Het
Myrf	A	G	19: 10,189,587 (GRCm39)		probably benign	Het
Mzf1	A	G	7: 12,786,744 (GRCm39)	W109R	probably damaging	Het
Ndufb4	A	T	16: 37,469,532 (GRCm39)		probably benign	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Oprk1	A	G	1: 5,668,827 (GRCm39)	K91R	probably damaging	Het
Or5m11b	C	T	2: 85,806,219 (GRCm39)	L211F	probably damaging	Het
Pdlim1	A	G	19: 40,231,844 (GRCm39)		probably null	Het
Ppp1r11	G	A	17: 37,260,781 (GRCm39)	R61C	probably damaging	Het
Racgap1	T	C	15: 99,521,515 (GRCm39)	D547G	probably benign	Het
Sema4b	A	G	7: 79,874,736 (GRCm39)	T709A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Supt5	T	C	7: 28,025,592 (GRCm39)	H218R	probably benign	Het
Tmem132c	T	A	5: 127,582,063 (GRCm39)	I426N	probably damaging	Het
Tpcn1	T	C	5: 120,677,097 (GRCm39)	N696S	probably damaging	Het
Ttn	T	C	2: 76,566,506 (GRCm39)	N26383S	possibly damaging	Het
Vax2	A	G	6: 83,688,495 (GRCm39)	T73A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Anpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Anpep	APN	7	79,475,484 (GRCm39)	missense	possibly damaging	0.64
IGL00089:Anpep	APN	7	79,491,734 (GRCm39)	missense	probably damaging	1.00
IGL00767:Anpep	APN	7	79,490,638 (GRCm39)	missense	probably benign	0.00
IGL00901:Anpep	APN	7	79,489,171 (GRCm39)	missense	probably benign
IGL01919:Anpep	APN	7	79,475,098 (GRCm39)	missense	possibly damaging	0.77
IGL02049:Anpep	APN	7	79,484,929 (GRCm39)	missense	probably damaging	0.97
IGL02195:Anpep	APN	7	79,476,433 (GRCm39)	missense	probably damaging	1.00
IGL02210:Anpep	APN	7	79,476,652 (GRCm39)	missense	probably benign	0.00
IGL02677:Anpep	APN	7	79,488,478 (GRCm39)	missense	probably damaging	1.00
IGL03073:Anpep	APN	7	79,488,703 (GRCm39)	missense	probably damaging	1.00
IGL03100:Anpep	APN	7	79,486,109 (GRCm39)	missense	probably benign	0.01
PIT4696001:Anpep	UTSW	7	79,489,212 (GRCm39)	missense	possibly damaging	0.85
R0329:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R0330:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R0619:Anpep	UTSW	7	79,490,757 (GRCm39)	missense	probably benign
R0691:Anpep	UTSW	7	79,489,047 (GRCm39)	missense	probably damaging	0.98
R1004:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1005:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1274:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1288:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1289:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1532:Anpep	UTSW	7	79,476,696 (GRCm39)	nonsense	probably null
R1540:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1574:Anpep	UTSW	7	79,488,155 (GRCm39)	splice site	probably null
R1574:Anpep	UTSW	7	79,488,155 (GRCm39)	splice site	probably null
R1618:Anpep	UTSW	7	79,485,165 (GRCm39)	missense	probably benign	0.00
R1627:Anpep	UTSW	7	79,491,759 (GRCm39)	missense	probably benign
R1693:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1717:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1745:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1746:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1748:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1809:Anpep	UTSW	7	79,491,571 (GRCm39)	missense	probably benign	0.01
R1901:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1902:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1903:Anpep	UTSW	7	79,488,004 (GRCm39)	missense	probably benign	0.01
R1985:Anpep	UTSW	7	79,490,605 (GRCm39)	splice site	probably null
R2379:Anpep	UTSW	7	79,490,966 (GRCm39)	missense	probably benign	0.28
R2508:Anpep	UTSW	7	79,488,039 (GRCm39)	missense	possibly damaging	0.80
R3110:Anpep	UTSW	7	79,491,720 (GRCm39)	missense	probably benign	0.15
R3112:Anpep	UTSW	7	79,491,720 (GRCm39)	missense	probably benign	0.15
R3898:Anpep	UTSW	7	79,488,973 (GRCm39)	missense	probably benign	0.07
R3899:Anpep	UTSW	7	79,488,973 (GRCm39)	missense	probably benign	0.07
R3900:Anpep	UTSW	7	79,488,973 (GRCm39)	missense	probably benign	0.07
R4211:Anpep	UTSW	7	79,490,744 (GRCm39)	nonsense	probably null
R4701:Anpep	UTSW	7	79,489,213 (GRCm39)	missense	probably benign	0.16
R4716:Anpep	UTSW	7	79,476,380 (GRCm39)	missense	probably benign	0.00
R5020:Anpep	UTSW	7	79,483,475 (GRCm39)	missense	probably benign
R5042:Anpep	UTSW	7	79,489,217 (GRCm39)	missense	probably benign	0.00
R5084:Anpep	UTSW	7	79,476,618 (GRCm39)	critical splice donor site	probably null
R5319:Anpep	UTSW	7	79,491,479 (GRCm39)	missense	probably benign
R5593:Anpep	UTSW	7	79,491,794 (GRCm39)	missense	probably benign	0.04
R5778:Anpep	UTSW	7	79,486,139 (GRCm39)	missense	probably benign	0.00
R5852:Anpep	UTSW	7	79,488,720 (GRCm39)	nonsense	probably null
R5906:Anpep	UTSW	7	79,483,423 (GRCm39)	missense	probably benign
R6164:Anpep	UTSW	7	79,491,953 (GRCm39)	missense	possibly damaging	0.68
R6254:Anpep	UTSW	7	79,488,981 (GRCm39)	missense	probably damaging	1.00
R6284:Anpep	UTSW	7	79,475,550 (GRCm39)	missense	probably damaging	1.00
R6380:Anpep	UTSW	7	79,491,644 (GRCm39)	missense	probably benign	0.04
R6594:Anpep	UTSW	7	79,491,109 (GRCm39)	splice site	probably null
R6746:Anpep	UTSW	7	79,488,933 (GRCm39)	splice site	probably null
R6920:Anpep	UTSW	7	79,475,097 (GRCm39)	missense	probably damaging	1.00
R7060:Anpep	UTSW	7	79,491,542 (GRCm39)	missense	probably benign	0.33
R7072:Anpep	UTSW	7	79,485,127 (GRCm39)	missense	possibly damaging	0.58
R7095:Anpep	UTSW	7	79,491,950 (GRCm39)	missense	possibly damaging	0.87
R7102:Anpep	UTSW	7	79,486,061 (GRCm39)	missense	probably benign	0.00
R7178:Anpep	UTSW	7	79,490,736 (GRCm39)	missense	probably benign
R7223:Anpep	UTSW	7	79,475,058 (GRCm39)	missense	probably damaging	1.00
R7344:Anpep	UTSW	7	79,488,398 (GRCm39)	missense	possibly damaging	0.60
R7441:Anpep	UTSW	7	79,477,392 (GRCm39)	missense	possibly damaging	0.93
R7479:Anpep	UTSW	7	79,485,118 (GRCm39)	missense	probably benign	0.11
R7503:Anpep	UTSW	7	79,476,385 (GRCm39)	missense	probably damaging	1.00
R7683:Anpep	UTSW	7	79,488,946 (GRCm39)	missense	probably damaging	0.98
R7912:Anpep	UTSW	7	79,488,174 (GRCm39)	missense	probably benign	0.00
R7935:Anpep	UTSW	7	79,476,709 (GRCm39)	missense	possibly damaging	0.46
R8036:Anpep	UTSW	7	79,491,646 (GRCm39)	missense	probably benign	0.11
R8039:Anpep	UTSW	7	79,489,148 (GRCm39)	critical splice donor site	probably null
R8470:Anpep	UTSW	7	79,489,269 (GRCm39)	missense	probably benign	0.16
R8549:Anpep	UTSW	7	79,490,644 (GRCm39)	missense	probably benign	0.00
R8723:Anpep	UTSW	7	79,488,686 (GRCm39)	missense	probably damaging	1.00
R8726:Anpep	UTSW	7	79,490,641 (GRCm39)	missense	probably benign	0.00
R9042:Anpep	UTSW	7	79,488,510 (GRCm39)	missense	probably damaging	0.99
R9151:Anpep	UTSW	7	79,491,785 (GRCm39)	missense	probably benign	0.31
R9200:Anpep	UTSW	7	79,490,870 (GRCm39)	missense	probably benign	0.00
R9216:Anpep	UTSW	7	79,486,049 (GRCm39)	missense	possibly damaging	0.49
R9570:Anpep	UTSW	7	79,476,661 (GRCm39)	missense	probably benign	0.00
R9769:Anpep	UTSW	7	79,488,478 (GRCm39)	missense	probably damaging	1.00
Z1176:Anpep	UTSW	7	79,477,387 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16