Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Xpnpep1'

171966

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep1

Ensembl Gene

ENSMUSG00000025027

Gene Name

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

Synonyms

D230045I08Rik

MMRRC Submission

039582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1543 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

52919710-53027093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52980107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 639 (V639A)

Ref Sequence

ENSEMBL: ENSMUSP00000138250 (fasta)

Gene Model

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

AlphaFold

Q6P1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000069988
AA Change: V596A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070946
Gene: ENSMUSG00000025027
AA Change: V596A

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: ENSMUST00000182728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182877

Predicted Effect

probably benign
Transcript: ENSMUST00000183108
AA Change: V639A

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138250
Gene: ENSMUSG00000025027
AA Change: V639A

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

SMART Domains

Protein: ENSMUSP00000138233
Gene: ENSMUSG00000025027

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,945,138 (GRCm39)	V206I	probably damaging	Het
Abca8b	A	C	11: 109,865,500 (GRCm39)	M319R	probably damaging	Het
Abcc6	T	C	7: 45,665,928 (GRCm39)	R231G	probably benign	Het
Acadm	A	G	3: 153,635,209 (GRCm39)	Y302H	probably damaging	Het
Acox3	C	A	5: 35,760,352 (GRCm39)	R423S	probably damaging	Het
Adam7	T	A	14: 68,759,371 (GRCm39)		probably benign	Het
Adgrb3	A	C	1: 25,527,169 (GRCm39)	M589R	probably benign	Het
Adgrl2	A	C	3: 148,564,909 (GRCm39)	F224V	probably damaging	Het
Adm2	G	C	15: 89,208,282 (GRCm39)	G74A	probably damaging	Het
Aen	T	A	7: 78,552,370 (GRCm39)	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,169,160 (GRCm39)	V22D	possibly damaging	Het
Arap2	T	A	5: 62,763,498 (GRCm39)	K1549*	probably null	Het
Arhgef11	G	A	3: 87,620,324 (GRCm39)	R430H	probably benign	Het
Asb17	T	G	3: 153,550,148 (GRCm39)	L60W	probably damaging	Het
BC035044	T	C	6: 128,867,948 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,166,000 (GRCm39)	T1422A	probably benign	Het
Cacna2d1	A	T	5: 16,471,716 (GRCm39)	M254L	possibly damaging	Het
Celf6	T	C	9: 59,511,160 (GRCm39)		probably benign	Het
Cemip2	G	T	19: 21,789,937 (GRCm39)	A668S	probably benign	Het
Coro2b	C	T	9: 62,333,123 (GRCm39)	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,415,353 (GRCm39)		probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dclk3	A	G	9: 111,297,122 (GRCm39)	H222R	probably benign	Het
Deaf1	A	G	7: 140,904,060 (GRCm39)	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,194,516 (GRCm39)	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,727,268 (GRCm39)	V605E	probably benign	Het
Dync2i1	T	C	12: 116,195,404 (GRCm39)		probably benign	Het
Frem2	A	T	3: 53,479,876 (GRCm39)	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,811,931 (GRCm39)	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,800,161 (GRCm39)	I304N	probably damaging	Het
Hdac7	G	A	15: 97,707,410 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,685,480 (GRCm39)	H45R	probably benign	Het
Hyal2	T	C	9: 107,447,386 (GRCm39)	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,221,997 (GRCm39)	R479W	probably damaging	Het
Lilrb4b	A	G	10: 51,357,517 (GRCm39)	T118A	probably damaging	Het
Lin7a	C	A	10: 107,247,930 (GRCm39)	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,331,074 (GRCm39)	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,610,844 (GRCm39)	K527E	probably benign	Het
Map10	C	T	8: 126,397,611 (GRCm39)	P335S	probably benign	Het
Mast3	A	G	8: 71,244,955 (GRCm39)	S2P	possibly damaging	Het
Mbtps1	A	G	8: 120,268,808 (GRCm39)		probably benign	Het
Mms22l	T	A	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,689,571 (GRCm39)	A244D	possibly damaging	Het
Nt5el	A	T	13: 105,248,877 (GRCm39)	R364*	probably null	Het
Or12k5	C	A	2: 36,895,139 (GRCm39)	L162F	probably damaging	Het
Or1j1	A	T	2: 36,703,069 (GRCm39)	F12I	probably damaging	Het
Or4k44	A	G	2: 111,368,142 (GRCm39)	V164A	probably benign	Het
Or52j3	T	A	7: 102,836,421 (GRCm39)	F204L	probably benign	Het
Or8b12c	T	A	9: 37,715,243 (GRCm39)	I12N	possibly damaging	Het
Pcx	A	T	19: 4,652,251 (GRCm39)	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,682 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,851,200 (GRCm39)	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,668,607 (GRCm39)	L560P	probably damaging	Het
Psmd14	A	T	2: 61,615,874 (GRCm39)	M248L	probably benign	Het
Ryr1	T	G	7: 28,782,962 (GRCm39)	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,061,727 (GRCm39)	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,026,777 (GRCm39)	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,468,082 (GRCm39)	V236A	probably benign	Het
Sobp	T	C	10: 42,897,720 (GRCm39)	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,850,056 (GRCm39)	R691S	probably benign	Het
Speg	A	G	1: 75,398,595 (GRCm39)	E2014G	probably damaging	Het
Steap4	A	G	5: 8,025,902 (GRCm39)		probably benign	Het
Tas2r144	G	A	6: 42,192,537 (GRCm39)	M92I	probably benign	Het
Tbc1d5	T	C	17: 51,242,560 (GRCm39)	Q179R	probably benign	Het
Tcf25	T	C	8: 124,115,326 (GRCm39)	Y188H	probably benign	Het
Tmem200a	G	A	10: 25,954,518 (GRCm39)		probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Tssk5	T	C	15: 76,256,409 (GRCm39)	T337A	probably benign	Het
Ttc23	T	C	7: 67,328,743 (GRCm39)	V228A	probably benign	Het
Tulp1	A	T	17: 28,581,645 (GRCm39)		probably benign	Het
Uqcc3	A	G	19: 8,858,117 (GRCm39)	F25L	probably damaging	Het
Vmn2r1	G	A	3: 63,996,994 (GRCm39)	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,829,374 (GRCm39)	E508K	probably benign	Het
Wdfy3	C	A	5: 101,991,947 (GRCm39)	V3451L	probably benign	Het
Wdr19	G	A	5: 65,382,033 (GRCm39)	V418I	probably benign	Het
Xirp2	C	T	2: 67,338,383 (GRCm39)	T208I	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
R0226:Xpnpep1	UTSW	19	52,998,583 (GRCm39)	missense	probably benign	0.03
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
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'- GAACATCAAGGTGACCGTGACTGAG -3'
(R):5'- ATTTCCCCAGGGTAGCAGACATCG -3'

Sequencing Primer
(F):5'- TGACTGAGGTCCTAGCACCTG -3'
(R):5'- TTGGCCTCACTGTGTAGCT -3'

Posted On

2014-04-13