Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Xpnpep1'

501078

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52919710-53027093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52983950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 592 (Y592H)

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

noncoding transcript
Transcript: ENSMUST00000182728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182877

Predicted Effect

probably benign
Transcript: ENSMUST00000183108
AA Change: Y592H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: Y592H

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: Y592H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: Y592H

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: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	probably damaging	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
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
R8329:Xpnpep1	UTSW	19	52,990,903 (GRCm39)	critical splice donor site	probably null
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'- TCTGAACGGAACTGTGGGAATG -3'
(R):5'- TTGCTGGATCCTGGCAATTCC -3'

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

Posted On

2017-12-01