Incidental Mutation 'R2367:Adipoq'
| ID |
246387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adipoq
|
| Ensembl Gene |
ENSMUSG00000022878 |
| Gene Name |
adiponectin, C1Q and collagen domain containing |
| Synonyms |
adiponectin, GBP28, Acdc, apM1, Acrp30, adipo, APN, Ad |
| MMRRC Submission |
040348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R2367 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22965286-22976718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22974069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023593]
[ENSMUST00000171309]
|
| AlphaFold |
Q60994 |
| PDB Structure |
THE CRYSTAL STRUCTURE OF A COMPLMENT-1Q FAMILY PROTEIN SUGGESTS AN EVOLUTIONARY LINK TO TUMOR NECROSIS FACTOR [X-RAY DIFFRACTION]
ACRP30 CALCIUM COMPLEX [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023593
AA Change: V32A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023593
Gene: ENSMUSG00000022878
AA Change: V32A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
45 |
74 |
2.54e-5 |
PROSPERO |
|
C1Q
|
109 |
245 |
2.81e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171309
AA Change: V53A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126793
Gene: ENSMUSG00000022878
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
61 |
133 |
1.4e-11 |
PFAM |
|
SCOP:d1gr3a_
|
134 |
168 |
2e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased beta-oxidation in muscle and liver, impaired free fatty acid clearance, and moderate insulin resistance. Heterozygotes show mild insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam3 |
T |
C |
7: 16,885,813 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,414 (GRCm39) |
V296F |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,499 (GRCm39) |
V182A |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,821 (GRCm39) |
R279W |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,002,956 (GRCm39) |
M552L |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,668,524 (GRCm39) |
G108S |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,448,605 (GRCm39) |
L422Q |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,213 (GRCm39) |
R136L |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,347 (GRCm39) |
W129* |
probably null |
Het |
| Ms4a3 |
G |
A |
19: 11,607,108 (GRCm39) |
P186S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,408,064 (GRCm39) |
M3184K |
probably damaging |
Het |
| Olig2 |
G |
A |
16: 91,023,454 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,981 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,281,985 (GRCm39) |
|
probably null |
Het |
| Phgdh |
C |
G |
3: 98,221,612 (GRCm39) |
G440A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,158,023 (GRCm39) |
Q450R |
probably damaging |
Het |
| Sema4d |
CGGGG |
CGGGGGGG |
13: 51,857,176 (GRCm39) |
|
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,065,271 (GRCm39) |
V776I |
possibly damaging |
Het |
| Slc25a39 |
T |
A |
11: 102,294,477 (GRCm39) |
T316S |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,087 (GRCm39) |
E578K |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,446 (GRCm39) |
I276K |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,036 (GRCm39) |
T610A |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 94,007,583 (GRCm39) |
S1090N |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,309,479 (GRCm39) |
V277A |
probably damaging |
Het |
| Traf3ip1 |
T |
G |
1: 91,435,242 (GRCm39) |
S314A |
possibly damaging |
Het |
| Tril |
T |
A |
6: 53,796,151 (GRCm39) |
D357V |
probably damaging |
Het |
| Tube1 |
T |
C |
10: 39,020,915 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,416 (GRCm39) |
I27V |
probably benign |
Het |
|
| Other mutations in Adipoq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02686:Adipoq
|
APN |
16 |
22,975,865 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0196:Adipoq
|
UTSW |
16 |
22,965,393 (GRCm39) |
splice site |
probably null |
|
|
R0617:Adipoq
|
UTSW |
16 |
22,974,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Adipoq
|
UTSW |
16 |
22,973,988 (GRCm39) |
missense |
unknown |
|
|
R2284:Adipoq
|
UTSW |
16 |
22,976,237 (GRCm39) |
nonsense |
probably null |
|
|
R3767:Adipoq
|
UTSW |
16 |
22,975,938 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7670:Adipoq
|
UTSW |
16 |
22,976,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8557:Adipoq
|
UTSW |
16 |
22,965,430 (GRCm39) |
intron |
probably benign |
|
|
R9434:Adipoq
|
UTSW |
16 |
22,965,697 (GRCm39) |
intron |
probably benign |
|
|
X0026:Adipoq
|
UTSW |
16 |
22,974,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGATCTTTGGAGTGGATTCC -3'
(R):5'- TTAATCACTGGACTCACCCTGC -3'
Sequencing Primer
(F):5'- TAGCTATATAGGACATGATGCAGGTC -3'
(R):5'- TTGTGGCCAGGATGTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation