Mutagenetix > Incidental Mutation

Incidental Mutation 'R3900:Anpep'

308932

Institutional Source

Beutler Lab

Gene Symbol

Anpep

Ensembl Gene

ENSMUSG00000039062

Gene Name

alanyl aminopeptidase, membrane

Synonyms

aminopeptidase N, Apn, Cd13

MMRRC Submission

041607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79471551-79497958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79488973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 372 (S372P)

Ref Sequence

ENSEMBL: ENSMUSP00000103015 (fasta)

Gene Model

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

AlphaFold

P97449

Predicted Effect

probably benign
Transcript: ENSMUST00000049004
AA Change: S372P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: S372P

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: S372P

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: S372P

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

Meta Mutation Damage Score

0.2354

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (45/46)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,781 (GRCm39)	S212R	probably damaging	Het
AI182371	T	C	2: 34,975,228 (GRCm39)	I334V	probably benign	Het
Apc2	C	A	10: 80,131,806 (GRCm39)		probably null	Het
Bcl6	T	G	16: 23,796,304 (GRCm39)	E41A	possibly damaging	Het
Brpf1	A	G	6: 113,295,394 (GRCm39)	I674V	probably benign	Het
Cherp	A	G	8: 73,223,780 (GRCm39)	I201T	possibly damaging	Het
Cluh	A	G	11: 74,557,930 (GRCm39)	H1056R	probably benign	Het
Csgalnact2	A	T	6: 118,097,975 (GRCm39)	F122I	probably damaging	Het
Cubn	C	A	2: 13,291,791 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,985,634 (GRCm39)	I1481N	possibly damaging	Het
Eif2ak4	A	G	2: 118,305,510 (GRCm39)	Y1561C	probably damaging	Het
Elfn1	G	A	5: 139,957,719 (GRCm39)	R241H	probably damaging	Het
Eml5	G	A	12: 98,791,782 (GRCm39)	R1245C	probably damaging	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm6133	A	G	18: 78,393,365 (GRCm39)	N120D	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf9	T	C	1: 172,317,125 (GRCm39)	L35P	probably damaging	Het
Khdc3	T	C	9: 73,011,628 (GRCm39)		probably benign	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Mrgpra1	G	T	7: 46,985,275 (GRCm39)	R135S	possibly damaging	Het
Or4c11b	A	T	2: 88,625,273 (GRCm39)	L182F	possibly damaging	Het
Or8g2b	A	G	9: 39,750,698 (GRCm39)		probably null	Het
Otud3	T	C	4: 138,624,196 (GRCm39)	N282S	probably benign	Het
Prkar1a	A	G	11: 109,551,901 (GRCm39)	K130R	probably benign	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Rictor	T	G	15: 6,818,954 (GRCm39)	D1392E	probably benign	Het
Setd2	C	T	9: 110,421,586 (GRCm39)	R273W	probably damaging	Het
Slc22a18	C	A	7: 143,033,507 (GRCm39)	A86E	probably damaging	Het
Slc24a1	A	T	9: 64,835,426 (GRCm39)	S900R	probably damaging	Het
Smarcc1	T	C	9: 109,947,586 (GRCm39)		probably benign	Het
Smoc1	T	C	12: 81,214,287 (GRCm39)	V234A	probably damaging	Het
Stard9	A	G	2: 120,544,030 (GRCm39)	T4443A	possibly damaging	Het
Timp2	C	T	11: 118,194,542 (GRCm39)	D139N	probably damaging	Het
Trim69	A	G	2: 122,009,322 (GRCm39)	T461A	probably benign	Het
Ubash3b	C	T	9: 40,942,860 (GRCm39)	D211N	probably benign	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,019,486 (GRCm39)	D752G	probably damaging	Het
Urb1	A	T	16: 90,580,264 (GRCm39)	I633N	possibly damaging	Het
Usp36	T	A	11: 118,170,650 (GRCm39)	D28V	possibly damaging	Het
Wdr6	G	A	9: 108,452,968 (GRCm39)	A305V	probably damaging	Het
Zfp248	T	C	6: 118,406,527 (GRCm39)	N253S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTCACCAGGTTGCCAAAC -3'
(R):5'- TAAGTGACCATGGGGCCTAC -3'

Sequencing Primer
(F):5'- CGTTGAGTCTCACAGGCCTTG -3'
(R):5'- CCTACATGGAGGTAGTGCCAG -3'

Posted On

2015-04-17