Mutagenetix > Incidental Mutation

Incidental Mutation 'R2234:Xpnpep1'

239956

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

040235-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53013461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 118 (D118A)

Ref Sequence

ENSEMBL: ENSMUSP00000138233 (fasta)

Gene Model

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

AlphaFold

Q6P1B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000069988
AA Change: D75A

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

SMART Domains

Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: D75A

Domain	Start	End	E-Value	Type
Pfam:Creatinase_N	10	154	5.2e-15	PFAM
Pfam:Creatinase_N_2	157	326	1.4e-47	PFAM
Pfam:Peptidase_M24	328	544	7.2e-52	PFAM
Pfam:Peptidase_M24_C	555	619	7.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182097
AA Change: D75A

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

SMART Domains

Protein: ENSMUSP00000138473
Gene: ENSMUSG00000025027
AA Change: D75A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182887

Predicted Effect

probably damaging
Transcript: ENSMUST00000183108
AA Change: D118A

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

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: D118A

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

noncoding transcript
Transcript: ENSMUST00000183188

Predicted Effect

probably damaging
Transcript: ENSMUST00000183274
AA Change: D118A

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

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: D118A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184510

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,558,708	D24G	probably damaging	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Akap8l	C	T	17: 32,338,803	G37R	probably damaging	Het
BC035947	A	T	1: 78,497,962	D644E	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Ccdc129	A	T	6: 55,897,812	H249L	possibly damaging	Het
Cd81	T	A	7: 143,066,319	N71K	probably benign	Het
Cemip	G	T	7: 83,998,562	D103E	probably benign	Het
Chfr	A	G	5: 110,170,863	K580E	probably damaging	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Clca1	G	T	3: 145,009,068	P596Q	possibly damaging	Het
Cpb1	A	T	3: 20,275,465	D32E	probably benign	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Csta1	C	T	16: 36,125,075	V23I	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
Eml5	A	C	12: 98,841,581	D984E	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Hid1	A	G	11: 115,351,119	I555T	probably damaging	Het
Hspa2	A	G	12: 76,404,645	T38A	possibly damaging	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kalrn	C	A	16: 34,176,262		probably null	Het
Kmt2d	T	C	15: 98,865,248	D240G	probably damaging	Het
Lrrc56	T	A	7: 141,198,294	D66E	probably damaging	Het
Myot	A	G	18: 44,354,272	D392G	probably damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1089	A	G	2: 86,733,577	F12L	possibly damaging	Het
Olfr1219	A	G	2: 89,074,248	L281P	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Olfr710	C	A	7: 106,944,620	C127F	probably damaging	Het
Olfr832	A	T	9: 18,944,816	H56L	probably damaging	Het
Pax8	A	G	2: 24,443,102	I77T	probably damaging	Het
Paxbp1	T	C	16: 91,034,934	I355M	probably benign	Het
Pds5a	A	T	5: 65,654,098	F331I	probably damaging	Het
Plec	A	T	15: 76,176,947	I2952N	probably damaging	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Smg7	A	T	1: 152,868,313	Y40N	probably damaging	Het
Ssc5d	A	G	7: 4,943,850	T1068A	probably benign	Het
Stambp	A	G	6: 83,551,978	S362P	probably damaging	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Thap4	G	T	1: 93,725,212	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,282,086	T40K	probably benign	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Trim65	G	T	11: 116,130,677	T110K	possibly damaging	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly 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
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
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'- AAGCACTAAGATCCTGGGTCC -3'
(R):5'- CTGGTCATCTAGGCTTCAGGAC -3'

Sequencing Primer
(F):5'- TGGGTCCCCAAAGCATTC -3'
(R):5'- CTTCAGGACTGCTCTGAGAGAGTC -3'

Posted On

2014-10-15