Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Xpnpep1'

575190

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7412 (G1)

Quality Score

149.008

Status

Validated

Chromosome

Chromosomal Location

52943417-53040214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 53006291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 302 (A302G)

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 benign
Transcript: ENSMUST00000183108
AA Change: A302G

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

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: A302G

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: A302G

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

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: A302G

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

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,612,829	Y335*	probably null	Het
Alpk1	A	T	3: 127,672,494	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,695,733	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,626,136	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,523,052	D1152N	probably benign	Het
Arvcf	A	G	16: 18,401,600	D642G	probably benign	Het
Astn1	T	G	1: 158,502,349	M258R	probably damaging	Het
Brinp3	C	G	1: 146,902,010	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,098,810	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,759,018	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cnot10	A	G	9: 114,625,903	Y221H	probably damaging	Het
Col6a3	T	A	1: 90,828,133	I145F	probably damaging	Het
Crybg2	A	G	4: 134,074,123	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,629,844	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,261,720	T462I	probably damaging	Het
Dhx30	T	C	9: 110,092,898	M239V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ephb6	A	G	6: 41,620,239	K994E	probably damaging	Het
Fam83a	A	C	15: 57,986,425	T122P	probably benign	Het
Fbxo24	C	A	5: 137,619,623	C293F	possibly damaging	Het
Fech	A	T	18: 64,458,184	S390T	probably benign	Het
Fras1	A	G	5: 96,614,889	H750R	probably benign	Het
Frmpd2	A	G	14: 33,571,969	D1364G	probably benign	Het
Ganab	T	C	19: 8,912,528	I652T	probably benign	Het
Gm21103	T	A	14: 6,301,955	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,089,752		probably benign	Het
Gm5799	A	G	14: 43,544,538	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,185,487	R184G	unknown	Het
Gmip	T	G	8: 69,820,499	D845E	probably benign	Het
Hspa9	T	C	18: 34,949,029	K175E	probably damaging	Het
Ipo13	A	G	4: 117,894,871	F890L	probably benign	Het
Klrb1f	C	T	6: 129,056,345	R179*	probably null	Het
Mrvi1	A	T	7: 110,923,756	V160D	probably benign	Het
Nasp	A	G	4: 116,610,588	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,722,851	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,960,533	M1R	probably null	Het
Nf1	G	A	11: 79,473,414	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,142,250	Q361*	probably null	Het
Olfr1330	A	T	4: 118,893,130	I16F	possibly damaging	Het
Olfr150	T	C	9: 39,737,126	F104L	probably benign	Het
Olfr221	A	T	14: 52,035,853	L86*	probably null	Het
Olfr350	T	C	2: 36,850,466	L140P	probably benign	Het
Olfr366	C	T	2: 37,219,762	T91I	possibly damaging	Het
Olfr829	A	T	9: 18,856,789	I46F	possibly damaging	Het
Opn1sw	A	T	6: 29,379,857	L126Q	probably damaging	Het
Osmr	A	G	15: 6,823,567	Y616H	probably damaging	Het
Pagr1a	T	C	7: 127,016,564	T120A	probably benign	Het
Patj	A	G	4: 98,411,139	E166G	probably damaging	Het
Plk4	G	A	3: 40,812,178	V764I	probably benign	Het
Polr3h	G	A	15: 81,916,401		probably null	Het
Ptprb	T	A	10: 116,341,138	D989E	probably benign	Het
Sdk2	A	T	11: 113,868,083		probably null	Het
Setd1b	C	A	5: 123,152,576	R869S	unknown	Het
Sgcz	T	C	8: 37,523,411	I263V	probably benign	Het
Skint8	G	A	4: 111,928,561	G68D	probably benign	Het
Slc22a7	A	T	17: 46,434,627	V326E	probably benign	Het
Slc39a1	T	G	3: 90,249,089	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,214,647		probably null	Het
Sptlc3	A	G	2: 139,589,617	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,450,108	L695F	probably damaging	Het
Tacr2	C	A	10: 62,261,648	Y302*	probably null	Het
Tas2r117	T	C	6: 132,803,229	L110P	probably damaging	Het
Tex9	A	T	9: 72,486,778		probably null	Het
Tmem17	A	T	11: 22,518,645	T195S	probably benign	Het
Trcg1	T	A	9: 57,241,483	S113T	probably benign	Het
Trpa1	A	T	1: 14,884,198	F826I	probably benign	Het
Usp17lc	A	G	7: 103,418,368	Y290C	probably damaging	Het
Vmn2r32	T	A	7: 7,474,213	D393V	possibly damaging	Het
Wdfy4	A	G	14: 33,149,584	L290P		Het
Xrn2	T	C	2: 147,049,346	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,563,071	S649G	probably benign	Het
Zscan4b	C	T	7: 10,900,864	C484Y	probably damaging	Het
Zscan4b	T	C	7: 10,901,893	D169G	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
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'- AAGCCCAGATCTCTGTTTCAGC -3'
(R):5'- AAAGGAACAGCGTGTCCTC -3'

Sequencing Primer
(F):5'- TTTCAGCTCTTTACAACATCAGAACC -3'
(R):5'- AGGAACAGCGTGTCCTCCTTTG -3'

Posted On

2019-10-07