Mutagenetix > Incidental Mutation

Incidental Mutation 'R1853:Xpnpep1'

208397

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

039877-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1853 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53006210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

Ref Sequence

ENSEMBL: ENSMUSP00000138233 (fasta)

Gene Model

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

AlphaFold

Q6P1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000069988
AA Change: E286G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: E286G

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 benign
Transcript: ENSMUST00000182500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182877

Predicted Effect

probably benign
Transcript: ENSMUST00000183108
AA Change: E329G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: E329G

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 benign
Transcript: ENSMUST00000183274
AA Change: E329G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: E329G

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110062M04Rik	A	G	6: 34,875,559	V67A	probably damaging	Het
9530053A07Rik	C	T	7: 28,155,546	Q1866*	probably null	Het
Acadvl	T	C	11: 70,010,870	K554E	probably damaging	Het
Acap2	C	T	16: 31,117,304	E322K	probably damaging	Het
Adam32	T	C	8: 24,898,626	Y354C	probably benign	Het
Agl	A	T	3: 116,779,322	Y789*	probably null	Het
Aida	A	G	1: 183,306,445	T68A	probably benign	Het
Aldh3b3	T	A	19: 3,965,822	L264Q	probably damaging	Het
Anks6	T	C	4: 47,049,387	T173A	probably benign	Het
Ankzf1	A	G	1: 75,198,128		probably null	Het
Apob	A	T	12: 8,010,928	K3137*	probably null	Het
Arhgef16	C	T	4: 154,291,106	V144I	probably benign	Het
Arhgef2	A	T	3: 88,632,915	T107S	possibly damaging	Het
Atad2	G	A	15: 58,097,289	P971L	possibly damaging	Het
Atp6ap1l	T	C	13: 90,883,588	E325G	probably damaging	Het
BC035947	T	C	1: 78,499,016	N293S	possibly damaging	Het
Bhmt	C	T	13: 93,625,335	V147M	probably damaging	Het
Ccdc112	A	T	18: 46,285,700	H447Q	probably benign	Het
Cd274	T	A	19: 29,380,482	N191K	probably damaging	Het
Ckmt1	C	T	2: 121,360,650	T181I	probably damaging	Het
Cnih3	C	A	1: 181,454,621	S140*	probably null	Het
Col28a1	T	G	6: 8,014,574	I944L	probably benign	Het
Cttnbp2	T	C	6: 18,408,602	T1007A	probably benign	Het
Cux2	G	T	5: 121,869,121	P826T	possibly damaging	Het
Dap3	A	T	3: 88,930,926	V86E	probably damaging	Het
Ddah1	A	G	3: 145,891,549	I180M	probably benign	Het
Ddt	T	C	10: 75,773,304	E7G	possibly damaging	Het
Dhx57	A	T	17: 80,274,879	Y432*	probably null	Het
Dpp9	T	C	17: 56,202,885	I314V	probably benign	Het
Enpp2	C	T	15: 54,845,823	E803K	probably damaging	Het
Ercc6	T	A	14: 32,576,816	I1387N	possibly damaging	Het
Fancg	T	C	4: 43,009,727	E57G	probably benign	Het
Fkbp5	A	T	17: 28,429,307	C103S	possibly damaging	Het
Gm14403	C	A	2: 177,509,139	H293N	probably damaging	Het
Gm4353	G	A	7: 116,083,569	P259L	probably benign	Het
Gm4787	T	A	12: 81,378,334	H350L	probably damaging	Het
Hibch	T	C	1: 52,901,335		probably null	Het
Impg2	T	C	16: 56,260,277	S815P	probably damaging	Het
Ipo11	A	T	13: 106,860,887	I688K	probably benign	Het
Kcnd3	A	T	3: 105,459,752	T313S	probably damaging	Het
Kctd14	A	T	7: 97,453,424	S38C	possibly damaging	Het
Kdm3b	G	T	18: 34,833,393	R1660L	probably damaging	Het
Kdr	C	T	5: 75,952,905	G768S	possibly damaging	Het
Klhl2	G	A	8: 64,823,006	H82Y	probably benign	Het
Lama3	A	T	18: 12,513,705	T1759S	possibly damaging	Het
Lamb1	T	G	12: 31,318,272	C1134G	probably damaging	Het
Macf1	T	C	4: 123,512,720		probably null	Het
Mlph	C	T	1: 90,945,667	Q567*	probably null	Het
Mocos	A	C	18: 24,695,969	E777A	probably damaging	Het
Neil1	T	A	9: 57,144,715	Q214L	probably damaging	Het
Nes	A	G	3: 87,975,807	T458A	possibly damaging	Het
Nlgn1	A	T	3: 26,133,522	N71K	possibly damaging	Het
Nr4a1	T	C	15: 101,271,764	I305T	probably benign	Het
Nupl1	T	C	14: 60,244,547	T123A	possibly damaging	Het
Oas1c	A	T	5: 120,807,995	V146E	probably damaging	Het
Oit3	C	T	10: 59,441,622		probably null	Het
Olfr361	A	T	2: 37,085,220	F176Y	probably damaging	Het
Olfr726	A	G	14: 50,084,120	L187P	probably damaging	Het
Osbp	T	C	19: 11,973,891	S267P	possibly damaging	Het
Pclo	T	A	5: 14,676,684		probably benign	Het
Pde9a	C	T	17: 31,455,120	P60S	probably damaging	Het
Pdia3	T	C	2: 121,431,663	I205T	probably benign	Het
Pdia4	A	T	6: 47,813,227	D26E	unknown	Het
Pds5a	A	G	5: 65,624,029	V1036A	possibly damaging	Het
Pitx3	C	T	19: 46,137,473	G4R	probably benign	Het
Pnn	T	A	12: 59,071,613	N327K	probably damaging	Het
Pole	T	G	5: 110,306,853	I984R	possibly damaging	Het
Ppil2	A	C	16: 17,107,223	D28E	probably benign	Het
Psme2	T	A	14: 55,588,479	I124F	probably damaging	Het
Pstpip2	T	A	18: 77,871,799	L198Q	probably damaging	Het
Rnf165	T	A	18: 77,462,975	S279C	possibly damaging	Het
Siglece	A	G	7: 43,659,936	F66S	probably benign	Het
Slc1a6	T	A	10: 78,812,924	V493E	probably damaging	Het
Snd1	T	A	6: 28,545,564	I373N	probably damaging	Het
Srrm2	A	G	17: 23,820,525	T2144A	probably damaging	Het
Sst	A	G	16: 23,890,653	L31P	probably damaging	Het
Stab1	C	T	14: 31,140,463	V2305M	probably damaging	Het
Stard9	T	C	2: 120,688,751	I545T	probably damaging	Het
Tcaim	T	C	9: 122,826,206	W248R	probably damaging	Het
Tepsin	A	C	11: 120,098,636	F13C	probably damaging	Het
Terf1	T	A	1: 15,818,938	L197*	probably null	Het
Tiam2	C	T	17: 3,415,135	R380C	probably damaging	Het
Tmem63b	G	A	17: 45,661,297	H745Y	possibly damaging	Het
Trim40	A	G	17: 36,889,078	L36P	probably damaging	Het
Trim72	A	G	7: 128,009,082	I251V	probably benign	Het
Trio	T	C	15: 27,756,536	Y914C	probably damaging	Het
Vmn2r113	G	A	17: 22,945,527	V135I	probably benign	Het
Vmn2r117	T	A	17: 23,477,455	H326L	probably damaging	Het
Vmn2r28	A	T	7: 5,481,247	C651*	probably null	Het
Xpo4	G	A	14: 57,585,907	T1042M	possibly damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,305,542		probably null	Het
Zfp51	A	T	17: 21,464,323	H400L	probably damaging	Het
Zfp518b	A	T	5: 38,673,407	F418L	probably benign	Het
Zfp54	T	A	17: 21,434,142	Y299*	probably null	Het
Zfp672	T	C	11: 58,316,964	H177R	probably benign	Het
Zfp692	C	A	11: 58,309,979	P229T	possibly damaging	Het
Zswim4	A	T	8: 84,224,200	C533S	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
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
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'- GTTTACAGAGCCTCATCCGC -3'
(R):5'- AGTATGCTCTACTCACGTGCC -3'

Sequencing Primer
(F):5'- ACTCTAGGCTCCAGCTCTG -3'
(R):5'- TTTCCTGGGACCCACCG -3'

Posted On

2014-06-23