Incidental Mutation 'R5276:Adipor2'
ID 403938
Institutional Source Beutler Lab
Gene Symbol Adipor2
Ensembl Gene ENSMUSG00000030168
Gene Name adiponectin receptor 2
Synonyms D6Ucla1e, 1110001I14Rik
MMRRC Submission 042863-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R5276 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 119330111-119394489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119334182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 343 (I343F)
Ref Sequence ENSEMBL: ENSMUSP00000126138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032272] [ENSMUST00000037434] [ENSMUST00000169744] [ENSMUST00000187699]
AlphaFold Q8BQS5
Predicted Effect probably damaging
Transcript: ENSMUST00000032272
AA Change: I343F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: I343F

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Blast:RING 81 138 3e-26 BLAST
Pfam:HlyIII 140 363 6.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037434
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460

DomainStartEndE-ValueType
Blast:WNT1 79 144 1e-13 BLAST
Pfam:VWA_N 155 271 7.3e-40 PFAM
VWA 296 481 4.37e-14 SMART
Pfam:Cache_1 494 586 1.1e-24 PFAM
low complexity region 837 849 N/A INTRINSIC
low complexity region 975 984 N/A INTRINSIC
low complexity region 1000 1011 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169744
AA Change: I343F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: I343F

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Blast:RING 81 138 3e-26 BLAST
Pfam:HlyIII 140 363 6.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187699
SMART Domains Protein: ENSMUSP00000139703
Gene: ENSMUSG00000030168

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188851
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display small testes and epididymis, degeneration of the seminiferous tubules, abnormal sperm maturation and abnormal thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,023,457 (GRCm39) F11S probably benign Het
Ahdc1 C T 4: 132,790,109 (GRCm39) P450L possibly damaging Het
Akna A C 4: 63,286,440 (GRCm39) V1353G possibly damaging Het
Baz2b G A 2: 59,792,958 (GRCm39) T390I probably benign Het
Btbd7 T C 12: 102,804,651 (GRCm39) K130E probably benign Het
Cdc42bpa A G 1: 179,965,415 (GRCm39) Y1101C probably damaging Het
Crlf2 T G 5: 109,705,501 (GRCm39) probably benign Het
Ddx59 A T 1: 136,347,186 (GRCm39) R281S probably damaging Het
Dgcr8 T G 16: 18,101,635 (GRCm39) T216P probably benign Het
Dsg4 A T 18: 20,579,896 (GRCm39) I34F probably benign Het
Enpp3 A G 10: 24,685,814 (GRCm39) S194P probably damaging Het
Entpd8 C T 2: 24,975,057 (GRCm39) R463W probably benign Het
Fam169a A G 13: 97,255,004 (GRCm39) T407A probably benign Het
Fam98b G T 2: 117,089,779 (GRCm39) V99F possibly damaging Het
Foxn3 T A 12: 99,162,687 (GRCm39) K405* probably null Het
Gsdmc T C 15: 63,673,806 (GRCm39) T160A probably benign Het
Hdac1 T C 4: 129,422,716 (GRCm39) probably null Het
Igfbp1 A C 11: 7,151,892 (GRCm39) T232P probably damaging Het
Lcor T A 19: 41,573,478 (GRCm39) H744Q probably damaging Het
Mertk G C 2: 128,643,234 (GRCm39) G878R possibly damaging Het
Metap2 G T 10: 93,704,784 (GRCm39) P281H possibly damaging Het
Metap2 T A 10: 93,704,794 (GRCm39) T278S probably benign Het
Mfn1 T C 3: 32,618,354 (GRCm39) V169A probably benign Het
Mms22l A G 4: 24,578,774 (GRCm39) D751G probably damaging Het
Mpl A G 4: 118,312,918 (GRCm39) V138A probably benign Het
Myef2 T A 2: 124,937,641 (GRCm39) K533N probably damaging Het
Mylk3 C T 8: 86,082,071 (GRCm39) G309E probably damaging Het
Nid1 T C 13: 13,643,157 (GRCm39) V365A probably damaging Het
Or4d2 A T 11: 87,784,018 (GRCm39) I244N probably damaging Het
Or5p57 A T 7: 107,665,423 (GRCm39) L164* probably null Het
Or7d10 C A 9: 19,831,917 (GRCm39) N137K possibly damaging Het
Or8g19 T C 9: 39,055,611 (GRCm39) C72R probably damaging Het
Pbrm1 A G 14: 30,828,141 (GRCm39) K1323E probably damaging Het
Pcdhga12 G A 18: 37,899,728 (GRCm39) D187N possibly damaging Het
Phrf1 T C 7: 140,839,196 (GRCm39) probably benign Het
Phtf2 A G 5: 20,977,195 (GRCm39) V608A probably benign Het
Plec G A 15: 76,057,638 (GRCm39) R4122W probably damaging Het
Polm A G 11: 5,779,393 (GRCm39) S441P probably benign Het
Prrc2b T A 2: 32,104,734 (GRCm39) V1404E probably benign Het
Ptger1 T G 8: 84,395,974 (GRCm39) S344A possibly damaging Het
Rasef A T 4: 73,654,004 (GRCm39) D401E probably null Het
Rbfox3 T C 11: 118,387,178 (GRCm39) Y312C probably damaging Het
Rbm48 A G 5: 3,634,759 (GRCm39) C402R probably benign Het
Rhbdl3 G A 11: 80,210,492 (GRCm39) A82T probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sidt2 T A 9: 45,866,075 (GRCm39) N44Y probably damaging Het
Slf2 T A 19: 44,923,600 (GRCm39) L138Q possibly damaging Het
Spag16 T C 1: 69,935,742 (GRCm39) probably null Het
Sspo C T 6: 48,467,401 (GRCm39) P4188S probably damaging Het
Synm C T 7: 67,384,437 (GRCm39) S1075N probably benign Het
Tacc2 G T 7: 130,331,047 (GRCm39) D2151Y probably damaging Het
Tbc1d32 C A 10: 56,027,914 (GRCm39) L729F probably damaging Het
Tnfsf4 A G 1: 161,244,584 (GRCm39) N91S possibly damaging Het
Trim63 G A 4: 134,050,444 (GRCm39) E243K probably benign Het
Trim72 T G 7: 127,603,714 (GRCm39) L20R probably damaging Het
Tubb1 A G 2: 174,299,217 (GRCm39) M300V probably damaging Het
Ubfd1 C T 7: 121,668,091 (GRCm39) A207V probably damaging Het
Usp16 T A 16: 87,267,339 (GRCm39) probably null Het
Vmn2r23 A G 6: 123,689,936 (GRCm39) T271A possibly damaging Het
Vmn2r72 T A 7: 85,387,462 (GRCm39) I701F possibly damaging Het
Wdfy4 A G 14: 32,769,232 (GRCm39) Y2078H probably damaging Het
Wdr41 T C 13: 95,153,958 (GRCm39) probably null Het
Zfp955b A G 17: 33,522,031 (GRCm39) Y500C probably damaging Het
Other mutations in Adipor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Adipor2 APN 6 119,347,129 (GRCm39) nonsense probably null
IGL01665:Adipor2 APN 6 119,338,887 (GRCm39) missense probably benign 0.06
IGL01932:Adipor2 APN 6 119,338,825 (GRCm39) missense probably damaging 1.00
IGL02111:Adipor2 APN 6 119,347,157 (GRCm39) nonsense probably null
IGL02540:Adipor2 APN 6 119,336,456 (GRCm39) missense probably benign 0.27
R0764:Adipor2 UTSW 6 119,334,215 (GRCm39) missense probably benign 0.00
R1464:Adipor2 UTSW 6 119,338,804 (GRCm39) missense probably damaging 1.00
R1464:Adipor2 UTSW 6 119,338,804 (GRCm39) missense probably damaging 1.00
R4773:Adipor2 UTSW 6 119,336,047 (GRCm39) missense probably benign 0.04
R5791:Adipor2 UTSW 6 119,338,866 (GRCm39) missense possibly damaging 0.91
R6765:Adipor2 UTSW 6 119,334,203 (GRCm39) missense possibly damaging 0.51
R7269:Adipor2 UTSW 6 119,347,205 (GRCm39) missense probably benign
R7477:Adipor2 UTSW 6 119,338,883 (GRCm39) missense probably benign 0.33
R8676:Adipor2 UTSW 6 119,340,447 (GRCm39) critical splice donor site probably benign
R9433:Adipor2 UTSW 6 119,336,486 (GRCm39) missense probably damaging 1.00
Z1177:Adipor2 UTSW 6 119,334,283 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CTGTCCAGAGAATCCACACG -3'
(R):5'- AGGCCTGAGTGGAATCATCC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GAGTGGAATCATCCCTACCTTG -3'
Posted On 2016-07-22