Incidental Mutation 'R6433:Aplnr'
ID 518624
Institutional Source Beutler Lab
Gene Symbol Aplnr
Ensembl Gene ENSMUSG00000044338
Gene Name apelin receptor
Synonyms apelin receptor, Agtrl1, msr/apj, APJ
MMRRC Submission 044571-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6433 (G1)
Quality Score 181.009
Status Validated
Chromosome 2
Chromosomal Location 84966704-84970267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84967017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 14 (Q14L)
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: Q14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: Q14L

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
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,101,561 (GRCm39) D1016E probably damaging Het
Aspm T C 1: 139,401,421 (GRCm39) L1147S probably damaging Het
Atad2b A G 12: 5,002,642 (GRCm39) T337A possibly damaging Het
Atrn A G 2: 130,864,947 (GRCm39) E1358G probably damaging Het
Caml C A 13: 55,771,062 (GRCm39) S53R possibly damaging Het
Cd180 T G 13: 102,842,141 (GRCm39) S396A probably benign Het
Cdhr2 A G 13: 54,866,325 (GRCm39) T344A probably damaging Het
Cyp4a31 A C 4: 115,427,466 (GRCm39) D224A probably damaging Het
Dhx36 T C 3: 62,392,395 (GRCm39) T544A probably damaging Het
Dnah14 A G 1: 181,479,222 (GRCm39) K1528E probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Dsc2 C T 18: 20,184,232 (GRCm39) probably null Het
Efl1 T A 7: 82,323,776 (GRCm39) D239E probably damaging Het
Elovl4 A G 9: 83,667,231 (GRCm39) V42A possibly damaging Het
Exoc3 T C 13: 74,337,306 (GRCm39) T432A possibly damaging Het
Fam98c A G 7: 28,855,553 (GRCm39) probably null Het
Fbln2 G A 6: 91,210,254 (GRCm39) G66D probably damaging Het
Fchsd1 G A 18: 38,097,137 (GRCm39) T410I possibly damaging Het
Flcn T C 11: 59,691,908 (GRCm39) D247G probably damaging Het
Galnt16 T C 12: 80,622,677 (GRCm39) V127A probably benign Het
H2-Ob A T 17: 34,462,860 (GRCm39) probably null Het
Has2 G A 15: 56,531,194 (GRCm39) S507F possibly damaging Het
Ido2 T A 8: 25,023,939 (GRCm39) M300L probably damaging Het
Itga10 T C 3: 96,565,357 (GRCm39) probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Mfsd2a A G 4: 122,844,250 (GRCm39) V299A probably benign Het
Mybpc1 T C 10: 88,396,217 (GRCm39) D210G probably damaging Het
Ndrg1 A T 15: 66,805,721 (GRCm39) M128K probably damaging Het
Obscn T A 11: 58,942,384 (GRCm39) T5091S probably benign Het
Or2j3 A G 17: 38,616,304 (GRCm39) L16P probably damaging Het
Pex5 A T 6: 124,390,572 (GRCm39) M91K possibly damaging Het
Phlpp2 G T 8: 110,661,317 (GRCm39) A810S probably benign Het
Pla2g7 G C 17: 43,910,017 (GRCm39) A174P probably damaging Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Poll A T 19: 45,542,043 (GRCm39) M421K probably benign Het
Ppfia2 C A 10: 106,749,559 (GRCm39) S1148R possibly damaging Het
Prkg1 A G 19: 30,758,746 (GRCm39) F280S probably benign Het
Rdh10 G A 1: 16,178,079 (GRCm39) C117Y probably damaging Het
Rtl1 C A 12: 109,561,630 (GRCm39) A70S unknown Het
Scgb2b3 A T 7: 31,058,492 (GRCm39) L104I probably benign Het
Sh3tc1 T C 5: 35,863,941 (GRCm39) R749G probably damaging Het
Skint4 A G 4: 112,003,707 (GRCm39) K380R probably benign Het
Smtnl1 A C 2: 84,648,712 (GRCm39) S181A probably benign Het
Spata31d1b T C 13: 59,864,999 (GRCm39) S716P probably damaging Het
Spc25 A G 2: 69,036,446 (GRCm39) probably benign Het
Stab2 C T 10: 86,737,431 (GRCm39) probably null Het
Timm22 T C 11: 76,300,570 (GRCm39) V114A possibly damaging Het
Timp4 A G 6: 115,224,181 (GRCm39) C163R probably damaging Het
Toporsl T A 4: 52,611,548 (GRCm39) N480K possibly damaging Het
Tpo T C 12: 30,134,753 (GRCm39) E735G probably benign Het
Trpm3 A G 19: 22,878,669 (GRCm39) D692G probably damaging Het
Ttn T C 2: 76,582,058 (GRCm39) H22945R probably damaging Het
Vmn2r6 A T 3: 64,454,801 (GRCm39) Y499* probably null Het
Vwa1 G A 4: 155,857,226 (GRCm39) H191Y probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GAAGGACTCTAAGCACCCTCAG -3'
(R):5'- GGTAGGTATAAGTGGCCCAC -3'

Sequencing Primer
(F):5'- TAAGCACCCTCAGACCTCTTACTC -3'
(R):5'- TATAAGTGGCCCACAGTGGC -3'
Posted On 2018-05-24