Mutagenetix > Incidental Mutation

Incidental Mutation 'R9388:Xpnpep1'

710461

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53004802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 365 (K365E)

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 damaging
Transcript: ENSMUST00000183108
AA Change: K365E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: K365E

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 damaging
Transcript: ENSMUST00000183274
AA Change: K365E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: K365E

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,190,848	T433S	probably benign	Het
Abca14	A	G	7: 120,283,038	D1141G	probably benign	Het
Abca17	A	G	17: 24,264,299	S1728P	unknown	Het
Adam29	A	C	8: 55,872,250	C390G	probably damaging	Het
Angptl4	G	A	17: 33,777,184	R273*	probably null	Het
Arfgef3	T	C	10: 18,630,129	N929S	probably benign	Het
Baiap3	A	G	17: 25,247,135		probably null	Het
Btla	T	C	16: 45,239,091	S53P	probably damaging	Het
Cand1	A	G	10: 119,211,308	F759S	possibly damaging	Het
Cbll1	T	C	12: 31,491,568	T104A	probably benign	Het
Chd7	A	G	4: 8,865,756	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,658,368	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,476,275	I381V	probably benign	Het
Dennd2d	T	A	3: 106,488,599	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,740,726	I3196T	probably damaging	Het
Dock2	C	A	11: 34,262,460	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,969,179	E423G	probably benign	Het
Ganab	A	G	19: 8,914,938	Q826R	probably damaging	Het
Herc4	T	A	10: 63,307,743	M684K	probably benign	Het
Hipk2	A	G	6: 38,731,021	L613P	probably damaging	Het
Hpf1	A	T	8: 60,900,148	I188L	probably benign	Het
Ifnar1	C	T	16: 91,495,479	P207L	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Kif1a	C	A	1: 93,072,307		probably null	Het
Kng1	A	T	16: 23,079,638	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,813,996	H757Q	probably damaging	Het
Med24	A	T	11: 98,710,067	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,169	W203*	probably null	Het
Mnt	C	T	11: 74,836,624	A112V	probably benign	Het
Myh7b	A	T	2: 155,631,063	N1415Y	probably benign	Het
Nipal1	T	A	5: 72,668,214	*417R	probably null	Het
Nlrp4c	C	T	7: 6,066,875	Q592*	probably null	Het
Obscn	T	C	11: 59,052,663	E4220G	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr129	C	T	17: 38,055,257	C103Y	probably damaging	Het
Olfr1369-ps1	T	C	13: 21,116,604	L304P	probably damaging	Het
Olfr537-ps1	G	T	7: 140,539,015	C166F	unknown	Het
Pcdhb20	A	T	18: 37,505,800	I460F	probably benign	Het
Primpol	G	A	8: 46,581,570	T441I	possibly damaging	Het
Prpmp5	T	C	6: 132,312,474	Q129R	unknown	Het
Ptprc	A	G	1: 138,083,642	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,678,021	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,817,609	I574V	probably benign	Het
Rims3	A	G	4: 120,891,355	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,560,823	Y776H	probably benign	Het
Skint6	C	T	4: 113,192,641	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,642,610	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,589,613	S61C	probably damaging	Het
Stab1	C	T	14: 31,154,355	V926M	probably damaging	Het
Stat1	A	T	1: 52,153,878	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,191,067	F191S	probably damaging	Het
Ube2o	T	C	11: 116,539,384	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 103,250,938	N262K	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
R9194:Xpnpep1	UTSW	19	53011858	missense	possibly damaging	0.68
R9342:Xpnpep1	UTSW	19	53004817	missense	probably benign	0.02
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'- CACCCTGTACACTGCATGGG -3'
(R):5'- TGAACACGTCCGAGCATC -3'

Sequencing Primer
(F):5'- TAGCATCAGATCTCCTGGGACTAG -3'
(R):5'- ATCAGCTGCCGTGACAGGAC -3'

Posted On

2022-04-18