Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Aplnr'

7133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aplnr

Ensembl Gene

ENSMUSG00000044338

Gene Name

apelin receptor

Synonyms

apelin receptor, Agtrl1, msr/apj, APJ

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

84966704-84970267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84967985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 337 (S337G)

Ref Sequence

ENSEMBL: ENSMUSP00000053638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057019] [ENSMUST00000184728]

AlphaFold

Q9WV08

Predicted Effect

probably benign
Transcript: ENSMUST00000057019
AA Change: S337G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: S337G

Domain	Start	End	E-Value	Type
Pfam:TAS2R	25	326	1.1e-8	PFAM
Pfam:7tm_1	43	307	4e-61	PFAM
Pfam:7TM_GPCR_Srv	46	324	3.5e-8	PFAM
low complexity region	335	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184728

SMART Domains

Protein: ENSMUSP00000139142
Gene: ENSMUSG00000044338

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	1	47	7e-3	SMART

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 G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early lethality, decreased cardiac contractility, and decreased exercise endurance. Mice for another knock-out allele develop pulmonary venoocclusive disease with heart right ventricle hypertrophy and elevated pulmonary pressures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Aplnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Aplnr	APN	2	84,968,007 (GRCm39)	missense	probably benign	0.02
PIT4810001:Aplnr	UTSW	2	84,967,628 (GRCm39)	missense	probably damaging	1.00
R0009:Aplnr	UTSW	2	84,967,620 (GRCm39)	splice site	probably null
R0009:Aplnr	UTSW	2	84,967,620 (GRCm39)	splice site	probably null
R0201:Aplnr	UTSW	2	84,967,521 (GRCm39)	missense	probably damaging	1.00
R1268:Aplnr	UTSW	2	84,967,775 (GRCm39)	missense	possibly damaging	0.80
R1386:Aplnr	UTSW	2	84,967,805 (GRCm39)	missense	possibly damaging	0.71
R1445:Aplnr	UTSW	2	84,967,353 (GRCm39)	missense	probably damaging	1.00
R1663:Aplnr	UTSW	2	84,967,038 (GRCm39)	missense	possibly damaging	0.53
R1967:Aplnr	UTSW	2	84,967,950 (GRCm39)	missense	probably benign
R4119:Aplnr	UTSW	2	84,967,310 (GRCm39)	missense	possibly damaging	0.96
R4672:Aplnr	UTSW	2	84,967,524 (GRCm39)	missense	probably damaging	1.00
R4916:Aplnr	UTSW	2	84,967,261 (GRCm39)	missense	probably damaging	1.00
R4968:Aplnr	UTSW	2	84,967,289 (GRCm39)	missense	probably damaging	1.00
R4990:Aplnr	UTSW	2	84,967,721 (GRCm39)	missense	probably damaging	0.96
R5067:Aplnr	UTSW	2	84,967,128 (GRCm39)	missense	probably damaging	1.00
R6235:Aplnr	UTSW	2	84,967,970 (GRCm39)	missense	probably benign
R6433:Aplnr	UTSW	2	84,967,017 (GRCm39)	missense	probably benign
R6828:Aplnr	UTSW	2	84,970,103 (GRCm39)	utr 3 prime	probably benign
R6898:Aplnr	UTSW	2	84,970,155 (GRCm39)	utr 3 prime	probably benign
R7547:Aplnr	UTSW	2	84,967,521 (GRCm39)	missense	probably damaging	1.00
R8539:Aplnr	UTSW	2	84,967,251 (GRCm39)	missense	probably benign	0.02
R8762:Aplnr	UTSW	2	84,967,515 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20