Incidental Mutation 'IGL00985:Aplnr'
ID 27039
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 # IGL00985
Quality Score
Status
Chromosome 2
Chromosomal Location 84966704-84970267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84968007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 344 (Y344F)
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: Y344F

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000053638
Gene: ENSMUSG00000044338
AA Change: Y344F

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,193,125 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,996,241 (GRCm39) G1389E probably damaging Het
Adcy3 T C 12: 4,184,600 (GRCm39) V92A probably damaging Het
Aoc1l1 A G 6: 48,954,481 (GRCm39) S540G probably benign Het
Atm A T 9: 53,371,116 (GRCm39) V2241E probably damaging Het
Cep290 T C 10: 100,403,023 (GRCm39) probably benign Het
Cnpy1 A T 5: 28,414,152 (GRCm39) Y91* probably null Het
Cobl C A 11: 12,204,843 (GRCm39) G613W probably damaging Het
Csn1s2a T C 5: 87,932,439 (GRCm39) S121P possibly damaging Het
Flg2 A T 3: 93,110,585 (GRCm39) Y871F unknown Het
Gapvd1 T A 2: 34,585,575 (GRCm39) D1008V probably damaging Het
Gask1a T C 9: 121,807,401 (GRCm39) L515P probably damaging Het
Igfl3 T C 7: 17,914,000 (GRCm39) probably null Het
Kmt2b A T 7: 30,279,352 (GRCm39) V1470E probably damaging Het
Mcc A T 18: 44,624,306 (GRCm39) L413Q probably damaging Het
Mia2 G A 12: 59,235,146 (GRCm39) G610D probably damaging Het
Mlst8 A T 17: 24,696,287 (GRCm39) D147E probably damaging Het
Muc19 G T 15: 91,770,943 (GRCm39) noncoding transcript Het
Mybpc3 A G 2: 90,965,704 (GRCm39) E1172G probably benign Het
Niban3 T C 8: 72,057,507 (GRCm39) probably benign Het
Nop14 A T 5: 34,802,133 (GRCm39) L557Q probably damaging Het
P3h3 T C 6: 124,822,552 (GRCm39) T540A probably benign Het
Phc3 T A 3: 30,968,346 (GRCm39) I897F probably benign Het
Plekhh2 G A 17: 84,871,356 (GRCm39) V205I probably benign Het
Poc5 A G 13: 96,547,254 (GRCm39) K506E probably damaging Het
Pum1 C A 4: 130,471,100 (GRCm39) T450K probably damaging Het
Retnlg G A 16: 48,694,688 (GRCm39) R112H possibly damaging Het
Rgl2 T C 17: 34,151,075 (GRCm39) V101A probably damaging Het
Serinc5 A G 13: 92,842,779 (GRCm39) T410A probably damaging Het
Shroom1 T C 11: 53,356,796 (GRCm39) V553A probably benign Het
Slco4c1 A T 1: 96,768,912 (GRCm39) W317R probably damaging Het
Snap91 T C 9: 86,703,790 (GRCm39) T268A probably benign Het
Supt16 T C 14: 52,399,148 (GRCm39) K1044E possibly damaging Het
Tarbp1 A T 8: 127,185,900 (GRCm39) L431I probably damaging Het
Tas2r124 C T 6: 132,732,492 (GRCm39) T267I probably benign Het
Tm7sf3 C T 6: 146,507,692 (GRCm39) V457I possibly damaging Het
Tmem132c A T 5: 127,581,930 (GRCm39) S382C probably damaging Het
Tmprss7 C A 16: 45,482,685 (GRCm39) C582F probably damaging Het
Tsc2 T C 17: 24,816,105 (GRCm39) E1694G probably damaging Het
Txndc2 G T 17: 65,945,544 (GRCm39) S211Y possibly damaging Het
Ubr3 A C 2: 69,833,775 (GRCm39) T205P probably damaging Het
Vmn2r116 G A 17: 23,620,489 (GRCm39) G741D probably damaging Het
Vps8 G A 16: 21,296,334 (GRCm39) probably benign Het
Wdr19 G A 5: 65,409,642 (GRCm39) D1127N probably benign Het
Zim1 T A 7: 6,685,759 (GRCm39) Y83F possibly damaging Het
Other mutations in Aplnr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Aplnr APN 2 84,967,985 (GRCm39) missense probably benign 0.00
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 2013-04-17