Mutagenetix > Incidental Mutation

Incidental Mutation 'R9042:Anpep'

687780

Institutional Source

Beutler Lab

Gene Symbol

Anpep

Ensembl Gene

ENSMUSG00000039062

Gene Name

alanyl aminopeptidase, membrane

Synonyms

aminopeptidase N, Apn, Cd13

MMRRC Submission

068869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79471551-79497958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79488510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 440 (Y440C)

Ref Sequence

ENSEMBL: ENSMUSP00000035943 (fasta)

Gene Model

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

AlphaFold

P97449

Predicted Effect

probably damaging
Transcript: ENSMUST00000049004
AA Change: Y440C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: Y440C

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 damaging
Transcript: ENSMUST00000107392
AA Change: Y440C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: Y440C

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

probably benign
Transcript: ENSMUST00000206235

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,152,134 (GRCm39)	K208R	probably benign	Het
Amh	T	C	10: 80,642,443 (GRCm39)	M242T	possibly damaging	Het
Atf7ip	G	T	6: 136,538,263 (GRCm39)	E499*	probably null	Het
Clasp2	A	G	9: 113,735,065 (GRCm39)	I967V	probably benign	Het
Cpa6	T	C	1: 10,407,515 (GRCm39)	T341A	probably benign	Het
Cyp26b1	T	A	6: 84,553,590 (GRCm39)	Y263F	probably benign	Het
Ecm2	C	A	13: 49,682,439 (GRCm39)	Y489*	probably null	Het
Gpr22	C	A	12: 31,759,853 (GRCm39)	V90L	probably benign	Het
Grip1	G	A	10: 119,836,438 (GRCm39)	V516M	probably benign	Het
Ipo5	C	T	14: 121,160,547 (GRCm39)	S188L	probably benign	Het
Kcnh6	T	A	11: 105,908,464 (GRCm39)	I360N	possibly damaging	Het
Lrp1b	C	A	2: 41,392,029 (GRCm39)	D512Y		Het
Lrpprc	C	T	17: 85,059,736 (GRCm39)		probably null	Het
Lta4h	A	G	10: 93,318,850 (GRCm39)	K547R	probably benign	Het
Nacad	G	C	11: 6,548,948 (GRCm39)	P1340R	possibly damaging	Het
Ncapd2	T	C	6: 125,156,301 (GRCm39)	K495E	probably benign	Het
Ndufaf7	A	T	17: 79,245,968 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,477 (GRCm39)	V77A	probably benign	Het
Or1f19	A	T	16: 3,411,132 (GRCm39)	S291C	probably damaging	Het
Or8k3b	T	C	2: 86,521,139 (GRCm39)	Y60C	probably damaging	Het
P2ry12	A	G	3: 59,125,456 (GRCm39)	V73A	probably damaging	Het
Pafah1b1	G	A	11: 74,574,493 (GRCm39)	T231I	probably benign	Het
Parp11	C	A	6: 127,448,615 (GRCm39)	Y77*	probably null	Het
Phc3	T	A	3: 30,983,916 (GRCm39)	T712S	unknown	Het
Pkm	T	A	9: 59,579,220 (GRCm39)	I335N	probably damaging	Het
Pmpca	A	G	2: 26,283,581 (GRCm39)	T417A	probably benign	Het
Pot1b	C	T	17: 56,006,991 (GRCm39)		probably null	Het
Prrc1	T	A	18: 57,507,764 (GRCm39)		probably null	Het
Psg18	A	T	7: 18,083,047 (GRCm39)	N369K	probably benign	Het
Pum3	T	A	19: 27,399,791 (GRCm39)	Y214F	probably damaging	Het
Reln	G	A	5: 22,253,036 (GRCm39)	T637M	probably damaging	Het
Rpe65	A	T	3: 159,321,292 (GRCm39)	Y368F	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Serpinb3c	T	A	1: 107,199,731 (GRCm39)	L263F	probably damaging	Het
Slc25a23	C	T	17: 57,352,553 (GRCm39)	V444I	probably damaging	Het
Slc40a1	C	T	1: 45,948,621 (GRCm39)	G553D	probably benign	Het
Spata31e5	T	C	1: 28,816,037 (GRCm39)	Q665R	possibly damaging	Het
Spata31h1	A	G	10: 82,123,185 (GRCm39)	I3275T	probably benign	Het
Taf7	C	A	18: 37,776,223 (GRCm39)	D115Y	probably damaging	Het
Tanc1	G	C	2: 59,673,766 (GRCm39)	A1624P	probably benign	Het
Tmed4	T	C	11: 6,224,405 (GRCm39)	D85G	probably benign	Het
Tmed6	A	G	8: 107,790,385 (GRCm39)	V138A	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Ttc38	A	G	15: 85,720,310 (GRCm39)	T91A	probably benign	Het
Ube4b	C	G	4: 149,444,833 (GRCm39)	A476P	probably benign	Het
Vmn2r53	A	G	7: 12,315,435 (GRCm39)	C795R	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
IGL02210:Anpep	APN	7	79,476,652 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCATTCCCAGAGTGGCAG -3'
(R):5'- TCCTACGTGGAATATCTGGGTGC -3'

Sequencing Primer
(F):5'- TGCCTGAGGGATGCACTC -3'
(R):5'- TGCTGACTATGCAGAGCCTAC -3'

Posted On

2021-11-19