Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Xpnpep1'

697888

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53011858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 187 (V187E)

Ref Sequence

ENSEMBL: ENSMUSP00000138250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182097] [ENSMUST00000182500] [ENSMUST00000183108] [ENSMUST00000183274]

AlphaFold

Q6P1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000182097

SMART Domains

Protein: ENSMUSP00000138473
Gene: ENSMUSG00000025027

Domain	Start	End	E-Value	Type
Pfam:Creatinase_N	9	119	5.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182500

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183108
AA Change: V187E

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: V187E

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 benign
Transcript: ENSMUST00000183274
AA Change: V187E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: V187E

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,259,088	M1K	probably null	Het
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dennd3	T	C	15: 73,547,304	L648P	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Dhx16	T	C	17: 35,889,281	V864A	probably benign	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Helz	C	T	11: 107,670,287	Q1392*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Itgb5	A	G	16: 33,900,511	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Rpp40	C	T	13: 35,896,915	D302N	probably benign	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Zfp592	A	G	7: 81,024,601	I438V	probably benign	Het

Other mutations in Xpnpep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Xpnpep1	APN	19	53010148	missense	probably benign	0.06
IGL01665:Xpnpep1	APN	19	52997032	missense	probably benign	0.00
IGL01833:Xpnpep1	APN	19	53000393	missense	probably damaging	1.00
IGL02011:Xpnpep1	APN	19	53002465	critical splice donor site	probably benign	0.00
IGL03229:Xpnpep1	APN	19	53025380	missense	probably benign
IGL03334:Xpnpep1	APN	19	53010146	missense	probably damaging	1.00
R0226:Xpnpep1	UTSW	19	53010152	missense	probably benign	0.03
R0613:Xpnpep1	UTSW	19	53006353	missense	probably damaging	0.97
R0648:Xpnpep1	UTSW	19	52997863	splice site	probably benign
R1543:Xpnpep1	UTSW	19	52991676	missense	probably benign	0.24
R1553:Xpnpep1	UTSW	19	53006338	missense	probably benign	0.00
R1801:Xpnpep1	UTSW	19	53010133	missense	probably damaging	1.00
R1853:Xpnpep1	UTSW	19	53006210	missense	probably benign	0.01
R2234:Xpnpep1	UTSW	19	53013461	missense	probably damaging	1.00
R3797:Xpnpep1	UTSW	19	53006342	missense	probably benign	0.28
R3820:Xpnpep1	UTSW	19	53003819	splice site	probably benign
R3822:Xpnpep1	UTSW	19	53003819	splice site	probably benign
R3925:Xpnpep1	UTSW	19	52991697	missense	probably damaging	1.00
R4831:Xpnpep1	UTSW	19	53014622	missense	probably benign	0.09
R5033:Xpnpep1	UTSW	19	53006175	missense	probably benign
R5184:Xpnpep1	UTSW	19	53013414	missense	probably benign	0.24
R5468:Xpnpep1	UTSW	19	52995519	missense	probably benign	0.01
R5573:Xpnpep1	UTSW	19	53004822	missense	probably damaging	1.00
R5876:Xpnpep1	UTSW	19	52997008	missense	probably damaging	1.00
R5929:Xpnpep1	UTSW	19	53013489	missense	probably damaging	1.00
R6454:Xpnpep1	UTSW	19	52997879	missense	possibly damaging	0.91
R6519:Xpnpep1	UTSW	19	53011844	missense	possibly damaging	0.90
R7095:Xpnpep1	UTSW	19	53011765	critical splice donor site	probably null
R7112:Xpnpep1	UTSW	19	53010107	missense	probably benign
R7412:Xpnpep1	UTSW	19	53006291	missense	probably benign
R8329:Xpnpep1	UTSW	19	53002472	critical splice donor site	probably null
R8431:Xpnpep1	UTSW	19	52995506	missense	probably benign	0.04
R9342:Xpnpep1	UTSW	19	53004817	missense	probably benign	0.02
R9388:Xpnpep1	UTSW	19	53004802	missense	probably damaging	1.00
R9546:Xpnpep1	UTSW	19	53002528	missense	probably damaging	1.00
R9746:Xpnpep1	UTSW	19	53013461	missense	probably damaging	1.00
RF017:Xpnpep1	UTSW	19	53032060	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGGGATCTACCAACTCCATACC -3'
(R):5'- TCACAATCGAGGGTCAGCTAAG -3'

Sequencing Primer
(F):5'- ACCAGGGTCTTTAATATGGCCAGC -3'
(R):5'- TCAGCTAAGAAGATGTTTCTGGGAC -3'

Posted On

2022-02-07