Incidental Mutation 'R5791:Adipor2'
ID |
446971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adipor2
|
Ensembl Gene |
ENSMUSG00000030168 |
Gene Name |
adiponectin receptor 2 |
Synonyms |
D6Ucla1e, 1110001I14Rik |
MMRRC Submission |
043207-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R5791 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
119330111-119394489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119338866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 129
(M129K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032272]
[ENSMUST00000169744]
[ENSMUST00000187699]
|
AlphaFold |
Q8BQS5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032272
AA Change: M129K
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032272 Gene: ENSMUSG00000030168 AA Change: M129K
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000169744
AA Change: M129K
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126138 Gene: ENSMUSG00000030168 AA Change: M129K
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188851
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
Het |
|
Other mutations in Adipor2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
R5276:Adipor2
|
UTSW |
6 |
119,334,182 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TCATTACTGAAAATCCGAGGGAG -3'
(R):5'- TCTGGGGCTTTGAATTCCTC -3'
Sequencing Primer
(F):5'- ATCCGAGGGAGAGAAATTCTATC -3'
(R):5'- CGTTTTACTGTTCTTAACAAAGCC -3'
|
Posted On |
2016-12-15 |