Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Anpep'

63962

Institutional Source

Beutler Lab

Gene Symbol

Anpep

Ensembl Gene

ENSMUSG00000039062

Gene Name

alanyl aminopeptidase, membrane

Synonyms

aminopeptidase N, Apn, Cd13

MMRRC Submission

038876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0691 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

79471551-79497958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 79489047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 347 (D347A)

Ref Sequence

ENSEMBL: ENSMUSP00000103015 (fasta)

Gene Model

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

AlphaFold

P97449

Predicted Effect

probably damaging
Transcript: ENSMUST00000049004
AA Change: D347A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035943
Gene: ENSMUSG00000039062
AA Change: D347A

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: D347A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103015
Gene: ENSMUSG00000039062
AA Change: D347A

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

0.9724

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,584,979 (GRCm39)	D865G	possibly damaging	Het
Acy1	A	T	9: 106,313,070 (GRCm39)		probably null	Het
Adcy4	A	T	14: 56,010,104 (GRCm39)		probably benign	Het
Arhgap28	C	T	17: 68,203,159 (GRCm39)		probably null	Het
Ccdc32	A	G	2: 118,857,610 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,400 (GRCm39)	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,319,939 (GRCm39)	Y958H	probably damaging	Het
Cenpe	A	G	3: 134,923,066 (GRCm39)	E137G	probably damaging	Het
Chd8	T	C	14: 52,450,890 (GRCm39)	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,271,692 (GRCm39)	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,385,574 (GRCm39)		probably null	Het
Cts7	A	G	13: 61,503,548 (GRCm39)	F139L	probably damaging	Het
Dera	T	C	6: 137,773,745 (GRCm39)		probably benign	Het
Dgka	A	G	10: 128,559,129 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,125 (GRCm39)	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,861,424 (GRCm39)		probably benign	Het
Fermt1	A	G	2: 132,748,653 (GRCm39)	S657P	probably damaging	Het
Fhip2b	T	C	14: 70,825,727 (GRCm39)	D351G	probably damaging	Het
Flnb	T	C	14: 7,890,810 (GRCm38)	V564A	probably benign	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gck	T	C	11: 5,856,691 (GRCm39)	R191G	probably damaging	Het
Gucy1b1	A	T	3: 81,952,941 (GRCm39)		probably benign	Het
Ifna2	A	C	4: 88,601,895 (GRCm39)	L41R	probably damaging	Het
Krt33a	T	G	11: 99,903,541 (GRCm39)	E197A	probably damaging	Het
Lce1e	G	A	3: 92,615,063 (GRCm39)	R95C	unknown	Het
Lct	G	T	1: 128,235,971 (GRCm39)	S345R	probably benign	Het
Lrp2	A	T	2: 69,281,724 (GRCm39)	N3882K	probably benign	Het
Mcc	G	T	18: 44,578,927 (GRCm39)	T652K	possibly damaging	Het
Mier1	A	G	4: 102,996,699 (GRCm39)	S109G	probably benign	Het
Nfat5	A	G	8: 108,082,237 (GRCm39)	N469S	probably damaging	Het
Or1e23	C	A	11: 73,407,670 (GRCm39)	M118I	possibly damaging	Het
Or6c214	G	A	10: 129,591,271 (GRCm39)	T16I	probably damaging	Het
Piwil1	G	T	5: 128,820,371 (GRCm39)	R256M	probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Sdk2	T	C	11: 113,685,746 (GRCm39)		probably null	Het
Sec22b	A	G	3: 97,819,990 (GRCm39)	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,036,669 (GRCm39)	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,199 (GRCm39)	S1310P	possibly damaging	Het
Spint1	A	G	2: 119,076,948 (GRCm39)	E344G	probably damaging	Het
Srrm1	G	A	4: 135,052,302 (GRCm39)	Q141*	probably null	Het
Tecta	A	T	9: 42,295,637 (GRCm39)	L286Q	probably damaging	Het
Tep1	T	A	14: 51,104,301 (GRCm39)	K198*	probably null	Het
Tk2	A	G	8: 104,957,824 (GRCm39)	V174A	probably benign	Het
Txndc5	T	C	13: 38,691,872 (GRCm39)	K165E	probably damaging	Het
Ubr4	G	A	4: 139,151,217 (GRCm39)	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 41,949,844 (GRCm39)	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,855,592 (GRCm39)	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,436,407 (GRCm39)	V223D	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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAGATATTCCACGTAGGAGGC -3'
(R):5'- TGATTACGCACTGAACGTTACAGGC -3'

Sequencing Primer
(F):5'- AGGCAAAGCCCTCGTTCAG -3'
(R):5'- TGAACGTTACAGGCCCCATC -3'

Posted On

2013-07-30