Incidental Mutation 'IGL01932:Adipor2'
| ID |
180471 |
| 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: 0.164)
|
| Stock # |
IGL01932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119330111-119394489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119338825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 143
(H143Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032272]
[ENSMUST00000169744]
[ENSMUST00000187699]
|
| AlphaFold |
Q8BQS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032272
AA Change: H143Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: H143Y
| 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 damaging
Transcript: ENSMUST00000169744
AA Change: H143Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: H143Y
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
A |
11: 7,050,565 (GRCm39) |
|
probably benign |
Het |
| Ankar |
A |
G |
1: 72,738,146 (GRCm39) |
I12T |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,414,893 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,373,609 (GRCm38) |
|
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,728 (GRCm39) |
T119M |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,566,825 (GRCm39) |
K2223N |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,156,005 (GRCm39) |
|
probably benign |
Het |
| Ezh2 |
T |
C |
6: 47,508,982 (GRCm39) |
T674A |
probably damaging |
Het |
| Ffar4 |
A |
G |
19: 38,085,978 (GRCm39) |
E135G |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,824,349 (GRCm39) |
R6694Q |
possibly damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4222 |
A |
G |
2: 89,978,801 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,301,326 (GRCm39) |
N289Y |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,503,705 (GRCm39) |
L1003P |
probably damaging |
Het |
| Mdk |
T |
C |
2: 91,761,461 (GRCm39) |
N72S |
probably damaging |
Het |
| Or2at4 |
T |
A |
7: 99,384,707 (GRCm39) |
I119N |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,425 (GRCm39) |
I137F |
probably damaging |
Het |
| Pafah1b3 |
A |
T |
7: 24,996,516 (GRCm39) |
C56S |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,644,159 (GRCm39) |
I189V |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,689 (GRCm39) |
N801S |
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,457 (GRCm39) |
S193T |
possibly damaging |
Het |
| Prkag1 |
A |
G |
15: 98,712,412 (GRCm39) |
I171T |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,350,910 (GRCm39) |
N73S |
probably benign |
Het |
| Rap1b |
A |
T |
10: 117,658,765 (GRCm39) |
F23I |
probably damaging |
Het |
| Scamp2 |
A |
G |
9: 57,468,399 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,714,818 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r17 |
A |
T |
5: 109,574,916 (GRCm39) |
R74S |
probably benign |
Het |
| Wif1 |
G |
T |
10: 120,931,940 (GRCm39) |
C288F |
probably damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation