Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Adipor2'

72551

Institutional Source

Beutler Lab

Gene Symbol

Adipor2

Ensembl Gene

ENSMUSG00000030168

Gene Name

adiponectin receptor 2

Synonyms

D6Ucla1e, 1110001I14Rik

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119330111-119394489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119334215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 332 (I332V)

Ref Sequence

ENSEMBL: ENSMUSP00000126138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032272] [ENSMUST00000037434] [ENSMUST00000169744] [ENSMUST00000187699]

AlphaFold

Q8BQS5

Predicted Effect

probably benign
Transcript: ENSMUST00000032272
AA Change: I332V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: I332V

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: ENSMUST00000037434

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460

Domain	Start	End	E-Value	Type
Blast:WNT1	79	144	1e-13	BLAST
Pfam:VWA_N	155	271	7.3e-40	PFAM
VWA	296	481	4.37e-14	SMART
Pfam:Cache_1	494	586	1.1e-24	PFAM
low complexity region	837	849	N/A	INTRINSIC
low complexity region	975	984	N/A	INTRINSIC
low complexity region	1000	1011	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169744
AA Change: I332V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: I332V

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

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Acp4	T	C	7: 43,901,738 (GRCm39)		probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Ddx49	T	C	8: 70,749,907 (GRCm39)	E170G	probably benign	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Osbp	A	G	19: 11,961,520 (GRCm39)		probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,058,022 (GRCm39)	E181*	probably null	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Tram1	A	G	1: 13,649,933 (GRCm39)	I97T	probably damaging	Het
Ttc38	T	C	15: 85,730,604 (GRCm39)		probably benign	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTCCAGAGAATCCACACGAAGG -3'
(R):5'- GACTGCTTACACAGCCTAGCTTACC -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- ACAGCCTAGCTTACCAGGAGG -3'

Posted On

2013-09-30