Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02210:Anpep'

284660

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 #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

79471551-79497958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79476652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 29 (Y29F)

Ref Sequence

ENSEMBL: ENSMUSP00000145682 (fasta)

Gene Model

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

AlphaFold

P97449

Predicted Effect

probably benign
Transcript: ENSMUST00000049004
AA Change: Y775F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: Y775F

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
AA Change: Y775F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: Y775F

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
AA Change: Y29F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206387

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,633,097 (GRCm39)	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,788,538 (GRCm39)	H422L	probably damaging	Het
Adcy6	T	C	15: 98,492,852 (GRCm39)	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,488,499 (GRCm39)	S110A	possibly damaging	Het
Ankrd1	T	C	19: 36,095,714 (GRCm39)	D86G	probably damaging	Het
Appl1	T	C	14: 26,647,909 (GRCm39)		probably benign	Het
Arrdc5	T	C	17: 56,607,026 (GRCm39)	D73G	probably damaging	Het
Atp12a	T	A	14: 56,609,201 (GRCm39)	Y142*	probably null	Het
Clec4a3	T	A	6: 122,931,067 (GRCm39)	I52N	probably damaging	Het
Cmya5	G	A	13: 93,229,242 (GRCm39)	P1949S	probably benign	Het
Crybb2	T	A	5: 113,206,253 (GRCm39)	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,311,333 (GRCm39)	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,643,289 (GRCm39)	F337S	probably damaging	Het
F5	T	C	1: 164,017,710 (GRCm39)	S596P	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Gm5070	T	G	3: 95,317,936 (GRCm39)		noncoding transcript	Het
Hps5	T	C	7: 46,435,994 (GRCm39)	Y184C	probably benign	Het
Letmd1	T	C	15: 100,367,128 (GRCm39)		probably null	Het
Lipo5	A	T	19: 33,445,277 (GRCm39)	N97K	unknown	Het
Mis18bp1	A	T	12: 65,183,605 (GRCm39)	Y922*	probably null	Het
Mob3c	C	A	4: 115,690,952 (GRCm39)	H181N	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Nav3	T	C	10: 109,602,851 (GRCm39)	T1233A	probably benign	Het
Nherf4	T	G	9: 44,159,614 (GRCm39)	T461P	probably benign	Het
Or12e8	T	A	2: 87,188,347 (GRCm39)	D186E	probably damaging	Het
Or12k8	G	T	2: 36,975,631 (GRCm39)	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,225,053 (GRCm39)	E1817G	possibly damaging	Het
Pgap4	A	G	4: 49,586,686 (GRCm39)	Y161H	probably benign	Het
Phc3	A	G	3: 30,990,858 (GRCm39)	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,308,106 (GRCm39)	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,640,818 (GRCm39)		probably benign	Het
Slc29a4	T	C	5: 142,704,534 (GRCm39)	Y359H	probably damaging	Het
Sspo	T	C	6: 48,477,426 (GRCm39)	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,238,229 (GRCm39)	L280Q	probably damaging	Het
Stap1	G	A	5: 86,225,920 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,247,020 (GRCm39)	V865A	possibly damaging	Het
Tnr	T	A	1: 159,679,671 (GRCm39)	V215D	probably benign	Het
Trpm1	T	C	7: 63,860,613 (GRCm39)	L288P	probably damaging	Het
Ttll5	T	A	12: 85,959,319 (GRCm39)		probably benign	Het
Usp8	T	C	2: 126,559,976 (GRCm39)		probably benign	Het
Uxs1	T	C	1: 43,789,446 (GRCm39)	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,244,345 (GRCm39)	E497G	probably damaging	Het
Xdh	T	C	17: 74,250,890 (GRCm39)	K21E	probably benign	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
IGL02584:Anpep	APN	7	79,475,141 (GRCm39)	splice site	probably benign
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