Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Xpnpep1'

653777

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52995506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 596 (N596S)

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 benign
Transcript: ENSMUST00000183108
AA Change: N596S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: N596S

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: N596S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: N596S

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 123,968,134	F273S		Het
Abhd14b	G	T	9: 106,451,413	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,345,394	P51L	probably benign	Het
Adap1	A	C	5: 139,273,425	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,102	N172S	probably damaging	Het
Arhgap24	A	G	5: 102,892,598	E560G	possibly damaging	Het
Ascc2	A	T	11: 4,664,227		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C130026I21Rik	G	A	1: 85,257,449	H130Y	probably benign	Het
Card6	A	T	15: 5,100,276	F546Y	probably damaging	Het
Cby3	T	G	11: 50,359,257	S2A	probably damaging	Het
Cct3	T	C	3: 88,318,524	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,928,044	G249R	probably benign	Het
Cpne3	C	A	4: 19,526,316	A408S	probably damaging	Het
Ctsr	A	C	13: 61,160,490	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,651,119		probably null	Het
Dlg4	A	G	11: 70,039,562	I388V	probably benign	Het
Ednrb	T	A	14: 103,843,197	I94F	probably benign	Het
Eftud2	C	A	11: 102,846,236	A573S	probably benign	Het
Fsip2	C	A	2: 82,981,566	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,442,787	C505Y	probably benign	Het
Ier5	C	A	1: 155,098,560	D291Y	probably benign	Het
Ifi207	T	C	1: 173,730,504	I223V	unknown	Het
Ifi208	T	C	1: 173,683,278	V333A	possibly damaging	Het
Kank4	T	C	4: 98,779,272	I313V	probably benign	Het
Klhl7	T	C	5: 24,138,475	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,628,187	D314G	probably benign	Het
Lrr1	T	C	12: 69,178,696	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,958,341	Q48L	probably benign	Het
March6	C	T	15: 31,505,746	W43*	probably null	Het
Mepe	A	G	5: 104,338,181	T396A	possibly damaging	Het
Myh8	T	G	11: 67,283,614	L229R	possibly damaging	Het
Ndufa10	C	G	1: 92,452,010		probably null	Het
Nek1	C	A	8: 61,034,032	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,550,343	Y384C	probably damaging	Het
Olfr1223	C	A	2: 89,144,379	V215F	probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Phf2	A	G	13: 48,821,602	F294S	unknown	Het
Polr3e	A	T	7: 120,931,305	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,836,091	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456	S860T	probably benign	Het
Rnf144a	T	C	12: 26,327,301	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,659,008	E3390G	probably benign	Het
Scn7a	T	C	2: 66,703,820	T504A	possibly damaging	Het
Slc26a5	T	G	5: 21,813,906	D645A	probably damaging	Het
Ston2	T	A	12: 91,648,297	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,699,969	P57S	probably damaging	Het
Th	G	T	7: 142,893,064	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,184,363	I61N	probably benign	Het
Wdtc1	A	G	4: 133,322,170		probably null	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
R9194:Xpnpep1	UTSW	19	53011858	missense	possibly damaging	0.68
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'- TCTGAACGGAACTGTGGGAATG -3'
(R):5'- TTGCTGGATCCTGGCAATTC -3'

Sequencing Primer
(F):5'- ATGGACCAGGGGATAGTCTCC -3'
(R):5'- TGGATCCTGGCAATTCCGAGG -3'

Posted On

2020-10-20