Incidental Mutation 'R3767:Adipoq'
ID 273083
Institutional Source Beutler Lab
Gene Symbol Adipoq
Ensembl Gene ENSMUSG00000022878
Gene Name adiponectin, C1Q and collagen domain containing
Synonyms adiponectin, GBP28, Acdc, apM1, Acrp30, adipo, APN, Ad
MMRRC Submission 040744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R3767 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 22965286-22976718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22975938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 134 (V134E)
Ref Sequence ENSEMBL: ENSMUSP00000126793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023593] [ENSMUST00000171309]
AlphaFold Q60994
Predicted Effect probably benign
Transcript: ENSMUST00000023593
AA Change: V113E

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023593
Gene: ENSMUSG00000022878
AA Change: V113E

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
internal_repeat_1 45 74 2.54e-5 PROSPERO
C1Q 109 245 2.81e-69 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171309
AA Change: V134E

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126793
Gene: ENSMUSG00000022878
AA Change: V134E

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
Pfam:Collagen 61 133 1.4e-11 PFAM
SCOP:d1gr3a_ 134 168 2e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased beta-oxidation in muscle and liver, impaired free fatty acid clearance, and moderate insulin resistance. Heterozygotes show mild insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmat A G 4: 141,483,273 (GRCm39) T236A probably benign Het
Anxa9 T C 3: 95,208,425 (GRCm39) N197S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Axdnd1 G A 1: 156,208,428 (GRCm39) T470M probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cdh3 A T 8: 107,263,606 (GRCm39) probably null Het
Cep85l A T 10: 53,167,906 (GRCm39) I624K probably benign Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Dchs1 A T 7: 105,406,292 (GRCm39) D2313E possibly damaging Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exo1 C T 1: 175,714,312 (GRCm39) P73L probably damaging Het
Fgfrl1 C A 5: 108,853,242 (GRCm39) H197Q possibly damaging Het
Fsbp G A 4: 11,583,706 (GRCm39) G135D probably damaging Het
Herc3 G A 6: 58,839,973 (GRCm39) R362H probably benign Het
Herc3 T C 6: 58,853,587 (GRCm39) F583L probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Ighv1-54 A G 12: 115,157,596 (GRCm39) V17A possibly damaging Het
Kcnh5 A G 12: 75,134,350 (GRCm39) Y400H possibly damaging Het
Kcnk16 T A 14: 20,319,230 (GRCm39) M1L possibly damaging Het
Kctd19 T C 8: 106,123,112 (GRCm39) T101A probably benign Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lonp1 T C 17: 56,928,952 (GRCm39) E270G possibly damaging Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Mrc1 A G 2: 14,323,981 (GRCm39) Y1106C probably damaging Het
Mybpc1 G T 10: 88,406,521 (GRCm39) probably null Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Nlrp4e G T 7: 23,039,988 (GRCm39) L770F probably damaging Het
Npas3 A G 12: 54,115,857 (GRCm39) *895W probably null Het
Nphs2 T C 1: 156,140,608 (GRCm39) I115T probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Or8g22 T A 9: 38,958,707 (GRCm39) H47L unknown Het
Patj A T 4: 98,569,456 (GRCm39) K1128* probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ppp1r13b G T 12: 111,812,851 (GRCm39) R123S probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Pum2 T A 12: 8,769,076 (GRCm39) Y323* probably null Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Selenoi A G 5: 30,461,187 (GRCm39) Y141C probably damaging Het
Smcr8 A G 11: 60,670,330 (GRCm39) T493A probably benign Het
Tjp2 A T 19: 24,078,190 (GRCm39) I901N probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttc23l T A 15: 10,530,781 (GRCm39) Y277F possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdr1 C T 5: 38,697,882 (GRCm39) G228R probably damaging Het
Xab2 T C 8: 3,669,053 (GRCm39) N31S probably damaging Het
Other mutations in Adipoq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Adipoq APN 16 22,975,865 (GRCm39) missense possibly damaging 0.64
R0196:Adipoq UTSW 16 22,965,393 (GRCm39) splice site probably null
R0617:Adipoq UTSW 16 22,974,160 (GRCm39) missense probably damaging 1.00
R1773:Adipoq UTSW 16 22,973,988 (GRCm39) missense unknown
R2284:Adipoq UTSW 16 22,976,237 (GRCm39) nonsense probably null
R2367:Adipoq UTSW 16 22,974,069 (GRCm39) missense probably benign 0.05
R7670:Adipoq UTSW 16 22,976,332 (GRCm39) missense probably damaging 0.99
R8557:Adipoq UTSW 16 22,965,430 (GRCm39) intron probably benign
R9434:Adipoq UTSW 16 22,965,697 (GRCm39) intron probably benign
X0026:Adipoq UTSW 16 22,974,034 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCGGAGATAATGCCTCTTGC -3'
(R):5'- TCCTTCTTGAAGAGGCTCACC -3'

Sequencing Primer
(F):5'- GAGATAATGCCTCTTGCTGGAAAC -3'
(R):5'- ACATCTTTCATGTACACCGTGATGTG -3'
Posted On 2015-03-25