Incidental Mutation 'IGL02540:Adipor2'
| ID |
297682 |
| 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 # |
IGL02540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119330111-119394489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119336456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 169
(R169L)
|
| 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: R169L
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: R169L
| 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: R169L
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: R169L
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap1 |
C |
T |
2: 91,500,584 (GRCm39) |
T371I |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,047,328 (GRCm39) |
P1031S |
probably damaging |
Het |
| Cenpu |
A |
G |
8: 47,031,354 (GRCm39) |
H245R |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,414,309 (GRCm39) |
S18P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,285 (GRCm39) |
T217A |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,805,534 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,731 (GRCm39) |
|
probably null |
Het |
| Fez1 |
A |
G |
9: 36,761,695 (GRCm39) |
R122G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,081,001 (GRCm39) |
M1417K |
probably damaging |
Het |
| Higd1c |
T |
C |
15: 100,263,247 (GRCm39) |
|
probably benign |
Het |
| Icosl |
G |
A |
10: 77,905,370 (GRCm39) |
|
probably null |
Het |
| Il24 |
T |
C |
1: 130,815,040 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,038,161 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,050,880 (GRCm39) |
L624P |
probably benign |
Het |
| Mov10l1 |
C |
A |
15: 88,902,414 (GRCm39) |
T768K |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,386 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,269,259 (GRCm39) |
M81T |
probably benign |
Het |
| Or5aq7 |
A |
T |
2: 86,938,386 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,515,465 (GRCm39) |
F649I |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,083,309 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,550,706 (GRCm39) |
S86L |
probably damaging |
Het |
| Rai1 |
G |
A |
11: 60,077,750 (GRCm39) |
A605T |
probably benign |
Het |
| Reln |
T |
A |
5: 22,239,750 (GRCm39) |
Q839L |
probably damaging |
Het |
| Rrp9 |
T |
C |
9: 106,360,746 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,200 (GRCm39) |
C178S |
probably benign |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,350 (GRCm39) |
F78L |
probably benign |
Het |
| Zfpm1 |
A |
G |
8: 123,058,859 (GRCm39) |
S160G |
possibly 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 |
|
IGL01932:Adipor2
|
APN |
6 |
119,338,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Adipor2
|
APN |
6 |
119,347,157 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation