Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Xpnpep1'

644289

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

067859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52919710-53027093 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 52990903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182500] [ENSMUST00000183108] [ENSMUST00000183274]

AlphaFold

Q6P1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000182500

Predicted Effect

probably null
Transcript: ENSMUST00000183108

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027

Domain	Start	End	E-Value	Type
Pfam:Creatinase_N	53	198	1.2e-17	PFAM
Pfam:Peptidase_M24	371	587	5.5e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000183274

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027

Domain	Start	End	E-Value	Type
Pfam:Creatinase_N	53	198	1.2e-17	PFAM
Pfam:Peptidase_M24	371	587	1.9e-48	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit pre and postnatal lethality, reduced male survival, growth retardation with decreased body weight, size and length, microcephaly and peptiduria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,461,978 (GRCm39)		probably null	Het
Ackr4	A	G	9: 103,976,660 (GRCm39)	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376 (GRCm39)	I596T	possibly damaging	Het
Aff3	G	A	1: 38,244,135 (GRCm39)	R879W	probably benign	Het
Apob	A	G	12: 8,061,135 (GRCm39)	R3206G	probably damaging	Het
Atg7	T	A	6: 114,663,057 (GRCm39)	D224E	possibly damaging	Het
Capn12	T	C	7: 28,582,626 (GRCm39)	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,233,848 (GRCm39)	V224G	probably damaging	Het
Ces4a	G	A	8: 105,874,714 (GRCm39)	V452I	probably damaging	Het
Cherp	G	A	8: 73,215,852 (GRCm39)	R834C		Het
Clptm1l	T	A	13: 73,760,547 (GRCm39)	I310N	probably damaging	Het
Cog3	A	T	14: 75,978,003 (GRCm39)	D230E	probably damaging	Het
Crb1	T	A	1: 139,165,005 (GRCm39)	I1101F	probably damaging	Het
Cts6	A	T	13: 61,343,282 (GRCm39)	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,174,906 (GRCm39)	C435*	probably null	Het
Defb13	A	G	8: 22,438,562 (GRCm39)	E40G	probably benign	Het
Dis3l	T	C	9: 64,219,112 (GRCm39)	D606G	possibly damaging	Het
Dop1b	T	C	16: 93,568,675 (GRCm39)	L1579P	probably damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gcn1	G	A	5: 115,747,921 (GRCm39)	G1776E	probably damaging	Het
Gls2	A	G	10: 128,037,154 (GRCm39)	T232A	probably benign	Het
Gprc6a	A	T	10: 51,503,355 (GRCm39)	Y169*	probably null	Het
Guca2b	T	C	4: 119,516,001 (GRCm39)	S18G	unknown	Het
Hars2	A	G	18: 36,922,288 (GRCm39)	D301G	possibly damaging	Het
Haus5	T	A	7: 30,358,984 (GRCm39)	Q226L	possibly damaging	Het
Hc	G	A	2: 34,902,910 (GRCm39)		probably null	Het
Hivep2	T	C	10: 14,004,011 (GRCm39)	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,899,543 (GRCm39)	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,498,661 (GRCm39)	R3L	probably benign	Het
Hspa8	T	G	9: 40,713,897 (GRCm39)	I130S	probably damaging	Het
Ier5l	C	A	2: 30,362,861 (GRCm39)	C388F	possibly damaging	Het
Ldc1	C	T	4: 130,109,156 (GRCm39)	V295M	possibly damaging	Het
Lmx1a	A	G	1: 167,517,372 (GRCm39)	N10S	probably benign	Het
Map2	T	C	1: 66,454,272 (GRCm39)	I1054T	probably benign	Het
Me1	C	T	9: 86,501,790 (GRCm39)	D268N	probably damaging	Het
Muc6	G	A	7: 141,226,525 (GRCm39)	P1501S	unknown	Het
Myo1d	T	C	11: 80,528,900 (GRCm39)	M641V	probably benign	Het
Nuggc	G	A	14: 65,878,731 (GRCm39)	R667K	probably benign	Het
Oprl1	T	A	2: 181,360,717 (GRCm39)	C231S	probably damaging	Het
Or11g26	T	C	14: 50,753,015 (GRCm39)	F118S	probably damaging	Het
Or13p10	A	C	4: 118,523,604 (GRCm39)	N297H	probably damaging	Het
Pard3b	C	A	1: 62,676,957 (GRCm39)	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,017,283 (GRCm39)	Y158C	probably damaging	Het
Prune2	T	G	19: 17,098,629 (GRCm39)	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,712,110 (GRCm39)	T158K	probably damaging	Het
Rbm42	T	A	7: 30,344,582 (GRCm39)	E227V	unknown	Het
Ripor3	T	C	2: 167,825,119 (GRCm39)	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,492,855 (GRCm39)	H3764L	possibly damaging	Het
Sbno2	T	C	10: 79,900,221 (GRCm39)	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,365,030 (GRCm39)	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,039,409 (GRCm39)	L73P	probably damaging	Het
Spag16	T	C	1: 69,934,407 (GRCm39)	I278T	probably benign	Het
Stx18	T	A	5: 38,285,450 (GRCm39)	L274*	probably null	Het
Terb1	A	T	8: 105,211,003 (GRCm39)	N341K	probably damaging	Het
Timm29	A	G	9: 21,505,001 (GRCm39)	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,369,665 (GRCm39)	M370L	probably benign	Het
Tmtc3	T	A	10: 100,283,296 (GRCm39)	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,832 (GRCm39)	C699*	probably null	Het
Trav5d-4	G	A	14: 53,239,208 (GRCm39)	W13*	probably null	Het
Trdn	A	G	10: 33,320,074 (GRCm39)		probably null	Het
Tsg101	A	T	7: 46,558,808 (GRCm39)	Y68N	probably damaging	Het
Ttn	A	G	2: 76,664,062 (GRCm39)	V11649A	unknown	Het
Wnk2	A	T	13: 49,248,914 (GRCm39)	V379D	probably damaging	Het
Yme1l1	C	T	2: 23,054,597 (GRCm39)	Q139*	probably null	Het

Other mutations in Xpnpep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Xpnpep1	APN	19	52,998,579 (GRCm39)	missense	probably benign	0.06
IGL01665:Xpnpep1	APN	19	52,985,463 (GRCm39)	missense	probably benign	0.00
IGL01833:Xpnpep1	APN	19	52,988,824 (GRCm39)	missense	probably damaging	1.00
IGL02011:Xpnpep1	APN	19	52,990,896 (GRCm39)	critical splice donor site	probably benign	0.00
IGL03229:Xpnpep1	APN	19	53,013,811 (GRCm39)	missense	probably benign
IGL03334:Xpnpep1	APN	19	52,998,577 (GRCm39)	missense	probably damaging	1.00
R0226:Xpnpep1	UTSW	19	52,998,583 (GRCm39)	missense	probably benign	0.03
R0613:Xpnpep1	UTSW	19	52,994,784 (GRCm39)	missense	probably damaging	0.97
R0648:Xpnpep1	UTSW	19	52,986,294 (GRCm39)	splice site	probably benign
R1543:Xpnpep1	UTSW	19	52,980,107 (GRCm39)	missense	probably benign	0.24
R1553:Xpnpep1	UTSW	19	52,994,769 (GRCm39)	missense	probably benign	0.00
R1801:Xpnpep1	UTSW	19	52,998,564 (GRCm39)	missense	probably damaging	1.00
R1853:Xpnpep1	UTSW	19	52,994,641 (GRCm39)	missense	probably benign	0.01
R2234:Xpnpep1	UTSW	19	53,001,892 (GRCm39)	missense	probably damaging	1.00
R3797:Xpnpep1	UTSW	19	52,994,773 (GRCm39)	missense	probably benign	0.28
R3820:Xpnpep1	UTSW	19	52,992,250 (GRCm39)	splice site	probably benign
R3822:Xpnpep1	UTSW	19	52,992,250 (GRCm39)	splice site	probably benign
R3925:Xpnpep1	UTSW	19	52,980,128 (GRCm39)	missense	probably damaging	1.00
R4831:Xpnpep1	UTSW	19	53,003,053 (GRCm39)	missense	probably benign	0.09
R5033:Xpnpep1	UTSW	19	52,994,606 (GRCm39)	missense	probably benign
R5184:Xpnpep1	UTSW	19	53,001,845 (GRCm39)	missense	probably benign	0.24
R5468:Xpnpep1	UTSW	19	52,983,950 (GRCm39)	missense	probably benign	0.01
R5573:Xpnpep1	UTSW	19	52,993,253 (GRCm39)	missense	probably damaging	1.00
R5876:Xpnpep1	UTSW	19	52,985,439 (GRCm39)	missense	probably damaging	1.00
R5929:Xpnpep1	UTSW	19	53,001,920 (GRCm39)	missense	probably damaging	1.00
R6454:Xpnpep1	UTSW	19	52,986,310 (GRCm39)	missense	possibly damaging	0.91
R6519:Xpnpep1	UTSW	19	53,000,275 (GRCm39)	missense	possibly damaging	0.90
R7095:Xpnpep1	UTSW	19	53,000,196 (GRCm39)	critical splice donor site	probably null
R7112:Xpnpep1	UTSW	19	52,998,538 (GRCm39)	missense	probably benign
R7412:Xpnpep1	UTSW	19	52,994,722 (GRCm39)	missense	probably benign
R8431:Xpnpep1	UTSW	19	52,983,937 (GRCm39)	missense	probably benign	0.04
R9194:Xpnpep1	UTSW	19	53,000,289 (GRCm39)	missense	possibly damaging	0.68
R9342:Xpnpep1	UTSW	19	52,993,248 (GRCm39)	missense	probably benign	0.02
R9388:Xpnpep1	UTSW	19	52,993,233 (GRCm39)	missense	probably damaging	1.00
R9546:Xpnpep1	UTSW	19	52,990,959 (GRCm39)	missense	probably damaging	1.00
R9746:Xpnpep1	UTSW	19	53,001,892 (GRCm39)	missense	probably damaging	1.00
RF017:Xpnpep1	UTSW	19	53,020,491 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AGGTGGAGACTTGAGGACTC -3'
(R):5'- ACAAGGCCGAGGAATTTCG -3'

Sequencing Primer
(F):5'- CTTGAGGACTCAGAGGGGGC -3'
(R):5'- AGGGACCTTGTGCTGACTC -3'

Posted On

2020-09-02