Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00764:Xpnpep2'

14884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpnpep2

Ensembl Gene

ENSMUSG00000037005

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound

Synonyms

9030008G12Rik, mAPP

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00764

Quality Score

Status

Chromosome

Chromosomal Location

47197602-47225858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47220031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 604 (V604A)

Ref Sequence

ENSEMBL: ENSMUSP00000110652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077775] [ENSMUST00000114998] [ENSMUST00000115000]

AlphaFold

B1AVD1

Predicted Effect

probably benign
Transcript: ENSMUST00000077775
AA Change: V537A

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076951
Gene: ENSMUSG00000037005
AA Change: V537A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Creatinase_N	53	190	1.5e-22	PFAM
Pfam:Peptidase_M24	362	576	2.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114998
AA Change: V537A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110650
Gene: ENSMUSG00000037005
AA Change: V537A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Creatinase_N	53	190	3.9e-23	PFAM
Pfam:Peptidase_M24	361	576	3.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115000
AA Change: V604A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110652
Gene: ENSMUSG00000037005
AA Change: V604A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Creatinase_N	53	190	3e-18	PFAM
Pfam:Creatinase_N_2	195	254	1e-11	PFAM
Pfam:Creatinase_N_2	314	428	8.1e-25	PFAM
Pfam:Peptidase_M24	429	643	4.9e-40	PFAM
Pfam:Peptidase_M24_C	651	715	1.9e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156654

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 77,413,625 (GRCm39)	Q117*	probably null	Het
Cep350	G	T	1: 155,816,492 (GRCm39)	T401K	possibly damaging	Het
Dnah17	A	G	11: 117,987,311 (GRCm39)	V1333A	probably damaging	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Eif2b3	T	C	4: 116,923,666 (GRCm39)	S294P	probably benign	Het
Fanci	A	G	7: 79,045,660 (GRCm39)	M1V	probably null	Het
Fgd6	A	G	10: 93,879,496 (GRCm39)	I117V	probably benign	Het
Fgf15	A	G	7: 144,450,672 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,865,303 (GRCm39)	I593T	probably benign	Het
Myof	A	T	19: 37,963,371 (GRCm39)	C409S	probably benign	Het
Nedd1	A	T	10: 92,530,836 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,516,937 (GRCm39)	H418L	probably damaging	Het
Plxnd1	A	T	6: 115,944,933 (GRCm39)	V981E	possibly damaging	Het
Ptpn13	T	C	5: 103,745,584 (GRCm39)	V2430A	probably damaging	Het
Thbs2	G	T	17: 14,910,514 (GRCm39)	D28E	probably damaging	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zfp773	T	G	7: 7,135,683 (GRCm39)	K304N	probably damaging	Het
Zfp831	A	G	2: 174,487,701 (GRCm39)	E792G	possibly damaging	Het

Other mutations in Xpnpep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02626:Xpnpep2	APN	X	47,215,786 (GRCm39)	missense	probably benign	0.44
IGL03058:Xpnpep2	APN	X	47,214,302 (GRCm39)	splice site	probably null
IGL03190:Xpnpep2	APN	X	47,207,205 (GRCm39)	splice site	probably benign
R1829:Xpnpep2	UTSW	X	47,214,230 (GRCm39)	missense	probably benign	0.31

Posted On

2012-12-06