Incidental Mutation 'R6828:Aplnr'
ID 534236
Institutional Source Beutler Lab
Gene Symbol Aplnr
Ensembl Gene ENSMUSG00000044338
Gene Name apelin receptor
Synonyms apelin receptor, Agtrl1, msr/apj, APJ
MMRRC Submission 045020-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6828 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 84966704-84970267 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 84970103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057019] [ENSMUST00000184728]
AlphaFold Q9WV08
Predicted Effect probably benign
Transcript: ENSMUST00000057019
SMART Domains Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338

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 unknown
Transcript: ENSMUST00000184728
AA Change: E51K
SMART Domains Protein: ENSMUSP00000139142
Gene: ENSMUSG00000044338
AA Change: E51K

DomainStartEndE-ValueType
SCOP:d1l9ha_ 1 47 7e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,545,389 (GRCm39) M349K possibly damaging Het
Akap12 A G 10: 4,304,606 (GRCm39) E472G probably damaging Het
Ap2s1 T C 7: 16,482,626 (GRCm39) Y94H probably damaging Het
Apeh A G 9: 107,964,237 (GRCm39) F530L probably damaging Het
Arid3b A G 9: 57,717,446 (GRCm39) probably null Het
Ash1l A C 3: 88,983,420 (GRCm39) D2874A probably benign Het
Aurka T A 2: 172,199,172 (GRCm39) R277S probably damaging Het
Calhm4 A G 10: 33,919,953 (GRCm39) F105L possibly damaging Het
Ccar1 C A 10: 62,600,209 (GRCm39) W574L probably damaging Het
Cd8b1 T C 6: 71,311,100 (GRCm39) F207L probably benign Het
Clec14a T C 12: 58,315,290 (GRCm39) R111G probably damaging Het
Clk3 G A 9: 57,668,132 (GRCm39) T263I possibly damaging Het
Col11a2 A G 17: 34,272,607 (GRCm39) probably null Het
Col5a3 C T 9: 20,709,748 (GRCm39) G604D unknown Het
Cracdl T C 1: 37,663,898 (GRCm39) T667A possibly damaging Het
Crb2 ACTGCTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 2: 37,666,421 (GRCm39) probably benign Het
Ctps1 A T 4: 120,405,335 (GRCm39) V369D probably damaging Het
Dennd5b A G 6: 148,895,244 (GRCm39) I1262T probably damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Fam170b A G 14: 32,557,915 (GRCm39) D250G probably damaging Het
Foxs1 G A 2: 152,775,048 (GRCm39) Q2* probably null Het
Frmpd1 T C 4: 45,275,383 (GRCm39) V512A probably damaging Het
Fry G A 5: 150,389,911 (GRCm39) probably null Het
Gria1 A G 11: 57,180,288 (GRCm39) Y677C probably damaging Het
Igdcc4 T C 9: 65,029,979 (GRCm39) I343T probably benign Het
Igkv1-132 T C 6: 67,736,697 (GRCm39) V5A probably benign Het
Ikzf5 A T 7: 130,993,401 (GRCm39) C256S probably damaging Het
Itk G A 11: 46,232,045 (GRCm39) H297Y probably damaging Het
Lamb3 A G 1: 193,017,756 (GRCm39) E879G probably benign Het
Lpin2 T C 17: 71,529,123 (GRCm39) V127A probably damaging Het
Man2b1 C A 8: 85,813,548 (GRCm39) P247T possibly damaging Het
Meak7 G A 8: 120,499,306 (GRCm39) T62I possibly damaging Het
Mxd3 T C 13: 55,473,967 (GRCm39) K122E probably benign Het
Npr1 C A 3: 90,372,120 (GRCm39) V231L probably benign Het
Nsd2 C T 5: 34,050,912 (GRCm39) A1263V probably damaging Het
Olfm4 A G 14: 80,258,973 (GRCm39) D374G probably damaging Het
Optc A T 1: 133,825,605 (GRCm39) I307N probably damaging Het
Or5p80 A C 7: 108,229,500 (GRCm39) Q100H possibly damaging Het
Or6c3b A T 10: 129,527,863 (GRCm39) S16T probably damaging Het
Pecr C A 1: 72,306,616 (GRCm39) E222* probably null Het
Pibf1 A G 14: 99,423,987 (GRCm39) N520S probably benign Het
Rhoj A G 12: 75,355,653 (GRCm39) N19S probably benign Het
Rock2 G A 12: 16,992,960 (GRCm39) probably null Het
Rpa1 G A 11: 75,205,697 (GRCm39) T220I probably damaging Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Sipa1l3 G A 7: 29,038,457 (GRCm39) H397Y probably benign Het
Snrk T C 9: 121,966,632 (GRCm39) I185T probably damaging Het
Srrt A T 5: 137,295,230 (GRCm39) V300E probably damaging Het
Taok2 A T 7: 126,471,047 (GRCm39) probably null Het
Tmem131 T C 1: 36,843,724 (GRCm39) K1379R possibly damaging Het
Usp15 T C 10: 122,963,894 (GRCm39) I543V probably damaging Het
Zfp553 A G 7: 126,835,447 (GRCm39) E334G probably damaging Het
Zim1 T C 7: 6,680,688 (GRCm39) Y325C probably damaging Het
Other mutations in Aplnr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Aplnr APN 2 84,967,985 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers
Posted On 2018-09-12