Incidental Mutation 'IGL00332:Aplnr'
ID7133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aplnr
Ensembl Gene ENSMUSG00000044338
Gene Nameapelin receptor
Synonymsapelin receptor, APJ, Agtrl1, msr/apj
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00332
Quality Score
Status
Chromosome2
Chromosomal Location85136225-85139923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85137641 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Aplnr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Aplnr APN 2 85137663 missense probably benign 0.02
PIT4810001:Aplnr UTSW 2 85137284 missense probably damaging 1.00
R0009:Aplnr UTSW 2 85137276 splice site probably null
R0009:Aplnr UTSW 2 85137276 splice site probably null
R0201:Aplnr UTSW 2 85137177 missense probably damaging 1.00
R1268:Aplnr UTSW 2 85137431 missense possibly damaging 0.80
R1386:Aplnr UTSW 2 85137461 missense possibly damaging 0.71
R1445:Aplnr UTSW 2 85137009 missense probably damaging 1.00
R1663:Aplnr UTSW 2 85136694 missense possibly damaging 0.53
R1967:Aplnr UTSW 2 85137606 missense probably benign
R4119:Aplnr UTSW 2 85136966 missense possibly damaging 0.96
R4672:Aplnr UTSW 2 85137180 missense probably damaging 1.00
R4916:Aplnr UTSW 2 85136917 missense probably damaging 1.00
R4968:Aplnr UTSW 2 85136945 missense probably damaging 1.00
R4990:Aplnr UTSW 2 85137377 missense probably damaging 0.96
R5067:Aplnr UTSW 2 85136784 missense probably damaging 1.00
R6235:Aplnr UTSW 2 85137626 missense probably benign
R6433:Aplnr UTSW 2 85136673 missense probably benign
R6828:Aplnr UTSW 2 85139759 utr 3 prime probably benign
R6898:Aplnr UTSW 2 85139811 utr 3 prime probably benign
R7547:Aplnr UTSW 2 85137177 missense probably damaging 1.00
Posted On2012-04-20