Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Xpnpep1'

33975

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0226 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

52919710-53027093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52998583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 222 (K222E)

Ref Sequence

ENSEMBL: ENSMUSP00000138250 (fasta)

Gene Model

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

AlphaFold

Q6P1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000069988
AA Change: K179E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: K179E

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: ENSMUST00000182097

SMART Domains

Protein: ENSMUSP00000138473
Gene: ENSMUSG00000025027

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

probably benign
Transcript: ENSMUST00000183108
AA Change: K222E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: K222E

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: K222E

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

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027
AA Change: K222E

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: ENSMUST00000183188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184510

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,451,544 (GRCm39)	E876V	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Angpt1	T	C	15: 42,331,631 (GRCm39)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pfkl	T	C	10: 77,828,368 (GRCm39)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,622,263 (GRCm39)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Sin3b	A	T	8: 73,471,136 (GRCm39)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	Het
Zmpste24	A	T	4: 120,938,406 (GRCm39)	S244R	probably benign	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
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
R5468:Xpnpep1	UTSW	19	52,983,950 (GRCm39)	missense	probably benign	0.01
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'- GCTGCAAACTGCCTCACCATTC -3'
(R):5'- TTCGTGGGCATCTGTGGGATAAAC -3'

Sequencing Primer
(F):5'- GCCTCACCATTCAGAGAGCTG -3'
(R):5'- ACATGTTCCTGGTGAGGCAG -3'

Posted On

2013-05-09