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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52995519 bp (GRCm38)

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: 44,360,235	R181Q	probably damaging	Het
Abca13	T	A	11: 9,294,062	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,206,098	I180N	probably benign	Het
Adam12	T	C	7: 133,975,473	D221G	probably damaging	Het
Adamts4	A	G	1: 171,252,609	T244A	probably benign	Het
Adrb2	A	T	18: 62,179,625	I43N	probably damaging	Het
Anxa1	A	T	19: 20,378,483	Y207N	probably damaging	Het
Apba2	T	C	7: 64,745,762	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,912,671	I593K	probably damaging	Het
Arsj	T	C	3: 126,438,388	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,059,970		probably null	Het
C2cd2	C	T	16: 97,868,591		probably null	Het
C530008M17Rik	A	T	5: 76,840,763		probably benign	Het
Cenpf	A	T	1: 189,652,371	S2571T	probably damaging	Het
Cep162	A	C	9: 87,227,237	L438V	probably benign	Het
Cfap74	A	T	4: 155,426,041	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,628	I548T	probably damaging	Het
Dglucy	A	G	12: 100,850,335	N382S	probably benign	Het
Dnah10	C	A	5: 124,830,493	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,316,678	M281L	probably benign	Het
Fam186b	A	G	15: 99,278,870	I713T	possibly damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fry	A	T	5: 150,399,588	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,603,235	I231V	probably benign	Het
Gbf1	A	G	19: 46,284,296	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,131,649	P5S	probably damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Impg1	T	C	9: 80,465,265	I9V	probably benign	Het
Lama4	A	G	10: 39,072,682		probably null	Het
Lamc1	A	G	1: 153,233,564	S1161P	probably damaging	Het
Lipm	T	A	19: 34,109,554		probably null	Het
Lrrc7	G	T	3: 158,318,436	N107K	probably damaging	Het
Lypd8	T	C	11: 58,386,760	S123P	probably damaging	Het
Man2a2	T	C	7: 80,352,981	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,807,175	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,322,414	C71Y	probably benign	Het
Mtus1	A	G	8: 41,084,578	S34P	probably benign	Het
Myo3b	A	G	2: 70,234,441	N406S	probably benign	Het
Nbr1	A	T	11: 101,572,464	M586L	probably benign	Het
Nfatc1	C	T	18: 80,649,855	R677H	probably benign	Het
Nlrc3	A	C	16: 3,964,035	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,365,000	F968I	probably benign	Het
Olfr340	A	T	2: 36,453,443	N286I	probably damaging	Het
Olfr881	G	A	9: 37,993,011	C168Y	probably damaging	Het
Olfr951	A	G	9: 39,393,961	N57D	probably benign	Het
Onecut1	A	T	9: 74,863,332	T346S	probably damaging	Het
Pclo	A	T	5: 14,680,952	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562		probably null	Het
Plcb4	T	C	2: 135,967,152	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,628,100	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,230,890	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,225,444	F69L	possibly damaging	Het
Prss27	C	A	17: 24,038,313	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,321,046	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,448,365	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,956,627	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,032,031	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 5,167,140		probably null	Het
Sepsecs	A	T	5: 52,644,014	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,446,210	K223E	probably benign	Het
Sh3tc2	G	A	18: 61,973,431		probably null	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Tmprss7	A	G	16: 45,656,448	F817S	probably damaging	Het
Tril	T	C	6: 53,819,647	N197D	probably damaging	Het
Tspan18	T	C	2: 93,209,862	T183A	probably benign	Het
Uroc1	A	T	6: 90,338,604	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,161	V196A	probably benign	Het
Zfp553	T	C	7: 127,237,030	S586P	probably benign	Het
Zfp619	C	T	7: 39,535,728	A394V	unknown	Het
Zfp985	A	G	4: 147,583,245	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,550,337	D309E	probably benign	Het
Zmynd15	T	C	11: 70,461,820	L73P	probably damaging	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
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
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'- TTGCTGGATCCTGGCAATTCC -3'

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

Posted On

2017-12-01