Incidental Mutation 'IGL01665:Adipor2'
| ID |
103286 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adipor2
|
| Ensembl Gene |
ENSMUSG00000030168 |
| Gene Name |
adiponectin receptor 2 |
| Synonyms |
D6Ucla1e, 1110001I14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
IGL01665
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119330111-119394489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119338887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 122
(L122H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032272]
[ENSMUST00000169744]
[ENSMUST00000187699]
|
| AlphaFold |
Q8BQS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032272
AA Change: L122H
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: L122H
| 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: ENSMUST00000169744
AA Change: L122H
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: L122H
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
A |
9: 54,530,004 (GRCm39) |
I231L |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,507,506 (GRCm39) |
V22D |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,164,272 (GRCm39) |
T236A |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,074,291 (GRCm39) |
I321V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,799,661 (GRCm39) |
Y258* |
probably null |
Het |
| C230029F24Rik |
T |
A |
1: 49,377,253 (GRCm39) |
|
noncoding transcript |
Het |
| Ccpg1 |
T |
A |
9: 72,913,159 (GRCm39) |
F232I |
probably damaging |
Het |
| Cd83 |
A |
T |
13: 43,955,153 (GRCm39) |
T195S |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,848,386 (GRCm39) |
G847* |
probably null |
Het |
| Cfap70 |
G |
A |
14: 20,453,186 (GRCm39) |
T897M |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,805,475 (GRCm39) |
M181L |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,457,083 (GRCm39) |
V2090I |
probably benign |
Het |
| Gm45234 |
A |
G |
6: 124,723,571 (GRCm39) |
|
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,406,341 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9 |
T |
A |
1: 172,319,738 (GRCm39) |
C39* |
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,463 (GRCm39) |
D568V |
probably damaging |
Het |
| Ints7 |
C |
T |
1: 191,345,331 (GRCm39) |
|
probably benign |
Het |
| Lsamp |
C |
T |
16: 41,964,375 (GRCm39) |
R250* |
probably null |
Het |
| Oit3 |
T |
A |
10: 59,274,731 (GRCm39) |
D23V |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,442 (GRCm39) |
L303Q |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,400,450 (GRCm39) |
N800K |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,331 (GRCm39) |
D210G |
probably benign |
Het |
| Plekhb2 |
T |
A |
1: 34,908,411 (GRCm39) |
Y152N |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,678,088 (GRCm39) |
S679P |
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,643,854 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,504 (GRCm39) |
S9R |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,985,463 (GRCm39) |
S522T |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation