Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01876:Aopep'

178905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aopep

Ensembl Gene

ENSMUSG00000021458

Gene Name

aminopeptidase O

Synonyms

2010111I01Rik, ApO

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01876

Quality Score

Status

Chromosome

Chromosomal Location

63112707-63473910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63338336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 570 (S570P)

Ref Sequence

ENSEMBL: ENSMUSP00000021911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021911] [ENSMUST00000091560] [ENSMUST00000222907]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021911
AA Change: S570P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021911
Gene: ENSMUSG00000021458
AA Change: S570P

Domain	Start	End	E-Value	Type
low complexity region	143	154	N/A	INTRINSIC
Pfam:Peptidase_M1	221	359	5.4e-11	PFAM
Pfam:Peptidase_M1	385	558	2.3e-15	PFAM
Pfam:Peptidase_MA_2	453	613	1.3e-12	PFAM
Leuk-A4-hydro_C	675	821	3.02e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000091560
AA Change: S571P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089148
Gene: ENSMUSG00000021458
AA Change: S571P

Domain	Start	End	E-Value	Type
low complexity region	143	154	N/A	INTRINSIC
Pfam:Peptidase_M1	220	359	2.7e-11	PFAM
Pfam:Peptidase_M1	386	561	1.9e-15	PFAM
Leuk-A4-hydro_C	676	822	3.02e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220457

Predicted Effect

unknown
Transcript: ENSMUST00000220863
AA Change: S462P

Predicted Effect

probably benign
Transcript: ENSMUST00000221676

Predicted Effect

probably benign
Transcript: ENSMUST00000222282

Predicted Effect

probably benign
Transcript: ENSMUST00000222907

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for one gene trapped allele are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l3	A	T	6: 48,966,970 (GRCm39)	R639S	possibly damaging	Het
Ap3b2	T	A	7: 81,123,602 (GRCm39)		probably null	Het
Api5	A	G	2: 94,249,299 (GRCm39)		probably benign	Het
Arhgap1	A	G	2: 91,480,564 (GRCm39)		probably null	Het
Cip2a	T	C	16: 48,822,041 (GRCm39)	V223A	probably damaging	Het
Cldn6	G	T	17: 23,900,158 (GRCm39)	V41F	probably damaging	Het
Dctn1	G	T	6: 83,174,903 (GRCm39)	V1032L	probably damaging	Het
Eef2	T	A	10: 81,016,104 (GRCm39)	F488L	probably benign	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Hnrnpc	T	C	14: 52,319,330 (GRCm39)	N91S	probably null	Het
Magel2	T	C	7: 62,028,575 (GRCm39)	V493A	possibly damaging	Het
Odr4	G	T	1: 150,258,089 (GRCm39)	T182N	probably benign	Het
Or4c117	A	T	2: 88,956,081 (GRCm39)		probably null	Het
Or5ac17	A	G	16: 59,036,382 (GRCm39)	V198A	possibly damaging	Het
Pcnx2	G	T	8: 126,592,770 (GRCm39)	S731R	probably benign	Het
Plekhm1	A	G	11: 103,267,577 (GRCm39)	L798P	probably damaging	Het
Prkd1	T	C	12: 50,413,131 (GRCm39)	E680G	probably damaging	Het
Rabggta	T	C	14: 55,956,128 (GRCm39)	T140A	probably damaging	Het
Slc2a1	G	A	4: 118,990,575 (GRCm39)	D236N	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Sptlc1	C	A	13: 53,528,048 (GRCm39)	V39F	probably benign	Het
Vmn1r6	A	G	6: 56,979,446 (GRCm39)	K36R	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdpcp	T	A	11: 21,763,383 (GRCm39)	D581E	possibly damaging	Het

Other mutations in Aopep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Aopep	APN	13	63,347,314 (GRCm39)	splice site	probably benign
IGL00329:Aopep	APN	13	63,338,977 (GRCm39)	missense	probably damaging	1.00
IGL00336:Aopep	APN	13	63,163,237 (GRCm39)	missense	possibly damaging	0.78
IGL01384:Aopep	APN	13	63,338,290 (GRCm39)	splice site	probably benign
IGL01780:Aopep	APN	13	63,357,939 (GRCm39)	missense	probably benign	0.00
IGL02096:Aopep	APN	13	63,208,903 (GRCm39)	missense	probably benign	0.04
IGL02166:Aopep	APN	13	63,163,267 (GRCm39)	missense	probably benign	0.02
IGL02184:Aopep	APN	13	63,215,925 (GRCm39)	missense	possibly damaging	0.50
PIT4378001:Aopep	UTSW	13	63,163,021 (GRCm39)	missense	probably damaging	1.00
R0139:Aopep	UTSW	13	63,338,298 (GRCm39)	missense	probably benign	0.01
R1209:Aopep	UTSW	13	63,338,878 (GRCm39)	splice site	probably null
R1233:Aopep	UTSW	13	63,347,334 (GRCm39)	missense	probably damaging	0.96
R1756:Aopep	UTSW	13	63,215,875 (GRCm39)	missense	possibly damaging	0.95
R1786:Aopep	UTSW	13	63,357,963 (GRCm39)	missense	probably benign	0.00
R1861:Aopep	UTSW	13	63,163,597 (GRCm39)	missense	probably damaging	1.00
R2130:Aopep	UTSW	13	63,357,963 (GRCm39)	missense	probably benign	0.00
R2131:Aopep	UTSW	13	63,357,963 (GRCm39)	missense	probably benign	0.00
R3076:Aopep	UTSW	13	63,387,929 (GRCm39)	missense	probably damaging	0.96
R3702:Aopep	UTSW	13	63,163,144 (GRCm39)	missense	probably benign	0.01
R3912:Aopep	UTSW	13	63,304,520 (GRCm39)	nonsense	probably null
R4512:Aopep	UTSW	13	63,304,481 (GRCm39)	missense	probably damaging	0.99
R4593:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4596:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4597:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4616:Aopep	UTSW	13	63,446,565 (GRCm39)	missense	probably damaging	1.00
R4625:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4627:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4630:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4632:Aopep	UTSW	13	63,215,906 (GRCm39)	missense	probably benign	0.01
R4911:Aopep	UTSW	13	63,318,753 (GRCm39)	critical splice acceptor site	probably null
R5204:Aopep	UTSW	13	63,180,904 (GRCm39)	missense	probably benign	0.15
R5210:Aopep	UTSW	13	63,215,924 (GRCm39)	missense	probably benign	0.00
R5849:Aopep	UTSW	13	63,163,312 (GRCm39)	missense	probably benign	0.00
R5861:Aopep	UTSW	13	63,446,626 (GRCm39)	missense	probably damaging	1.00
R5960:Aopep	UTSW	13	63,388,087 (GRCm39)	missense	probably damaging	0.99
R6021:Aopep	UTSW	13	63,208,896 (GRCm39)	missense	probably damaging	1.00
R6048:Aopep	UTSW	13	63,388,139 (GRCm39)	missense	probably damaging	0.99
R6379:Aopep	UTSW	13	63,216,057 (GRCm39)	missense	probably damaging	0.97
R7038:Aopep	UTSW	13	63,338,339 (GRCm39)	missense	possibly damaging	0.54
R7493:Aopep	UTSW	13	63,163,345 (GRCm39)	missense	probably benign	0.01
R7788:Aopep	UTSW	13	63,304,407 (GRCm39)	missense	possibly damaging	0.89
R7970:Aopep	UTSW	13	63,180,974 (GRCm39)	missense	probably benign	0.11
R7988:Aopep	UTSW	13	63,208,954 (GRCm39)	missense	probably benign	0.00
R8041:Aopep	UTSW	13	63,180,921 (GRCm39)	missense	probably damaging	1.00
R8052:Aopep	UTSW	13	63,216,065 (GRCm39)	missense	probably damaging	1.00
R8053:Aopep	UTSW	13	63,338,345 (GRCm39)	nonsense	probably null
R8537:Aopep	UTSW	13	63,338,364 (GRCm39)	missense	probably damaging	1.00
R8554:Aopep	UTSW	13	63,444,711 (GRCm39)	missense	possibly damaging	0.94
R8681:Aopep	UTSW	13	63,338,373 (GRCm39)	missense	probably damaging	1.00
R8909:Aopep	UTSW	13	63,388,111 (GRCm39)	missense	possibly damaging	0.95
R8945:Aopep	UTSW	13	63,388,145 (GRCm39)	missense	probably null	1.00
R8990:Aopep	UTSW	13	63,304,428 (GRCm39)	missense	probably damaging	1.00
R9032:Aopep	UTSW	13	63,444,681 (GRCm39)	nonsense	probably null
R9049:Aopep	UTSW	13	63,208,852 (GRCm39)	missense	probably benign	0.00
R9166:Aopep	UTSW	13	63,318,862 (GRCm39)	critical splice donor site	probably null
R9590:Aopep	UTSW	13	63,208,923 (GRCm39)	missense	probably benign
Z1177:Aopep	UTSW	13	63,318,804 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07