Mutagenetix > Incidental Mutation

Incidental Mutation 'R0898:Adipor1'

83737

Institutional Source

Beutler Lab

Gene Symbol

Adipor1

Ensembl Gene

ENSMUSG00000026457

Gene Name

adiponectin receptor 1

Synonyms

2810031L11Rik

MMRRC Submission

039058-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134343116-134361089 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 134351814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027727] [ENSMUST00000112237]

AlphaFold

Q91VH1

Predicted Effect

probably null
Transcript: ENSMUST00000027727

SMART Domains

Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457

Domain	Start	End	E-Value	Type
Blast:RING	72	127	2e-31	BLAST
Pfam:HlyIII	129	352	2.2e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112237

SMART Domains

Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457

Domain	Start	End	E-Value	Type
Blast:RING	72	127	2e-31	BLAST
Pfam:HlyIII	129	352	7.4e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148822

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

98% (42/43)

MGI Phenotype

FUNCTION: This gene encodes a receptor for the fat-derived hormone adiponectin. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. Homozygous knockout mice for this gene exhibit elevated plasma glucose and insulin levels as well as impaired glucose tolerance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal homeostasis, adipose tissue morphology and adaptive thermogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apmap	A	G	2: 150,427,669 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,667,221 (GRCm39)	N442S	probably benign	Het
Bpifb5	C	T	2: 154,075,254 (GRCm39)	A394V	probably benign	Het
Brpf3	A	G	17: 29,025,964 (GRCm39)	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,383,055 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,373,153 (GRCm39)		probably benign	Het
Cpm	A	C	10: 117,512,011 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Ddx59	T	C	1: 136,344,679 (GRCm39)	Y117H	probably damaging	Het
Fam241b	A	G	10: 61,944,773 (GRCm39)	F98L	probably damaging	Het
Fmn2	G	A	1: 174,331,026 (GRCm39)	G472E	unknown	Het
Gcdh	T	C	8: 85,620,189 (GRCm39)	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,866,290 (GRCm39)		noncoding transcript	Het
Gmeb1	T	C	4: 131,962,093 (GRCm39)	T189A	probably benign	Het
Iqck	G	A	7: 118,570,664 (GRCm39)	C272Y	probably damaging	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,904,490 (GRCm39)		probably benign	Het
Nabp1	T	C	1: 51,510,496 (GRCm39)	I169V	probably benign	Het
Or14j8	T	C	17: 38,263,127 (GRCm39)	T263A	probably benign	Het
Or8c20	G	A	9: 38,260,738 (GRCm39)	V120M	probably damaging	Het
Pfkm	A	G	15: 98,026,111 (GRCm39)	I569V	probably benign	Het
Plcb1	A	T	2: 135,229,063 (GRCm39)	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,366,806 (GRCm39)	D140A	probably damaging	Het
Plxna2	A	G	1: 194,479,332 (GRCm39)	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,248,864 (GRCm39)	T498A	probably benign	Het
Prkar2b	A	T	12: 32,013,001 (GRCm39)	L372I	possibly damaging	Het
Rslcan18	T	C	13: 67,246,880 (GRCm39)	N120S	probably benign	Het
Sbf2	C	T	7: 109,970,859 (GRCm39)	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,069,370 (GRCm39)	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,254,349 (GRCm39)	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,744,075 (GRCm39)	T462A	probably damaging	Het
Sox11	T	C	12: 27,391,224 (GRCm39)	Y395C	probably damaging	Het
Taf2	T	C	15: 54,923,480 (GRCm39)	T266A	probably damaging	Het
Tanc1	C	T	2: 59,621,132 (GRCm39)	T317I	probably damaging	Het
Tnxb	T	C	17: 34,889,719 (GRCm39)	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,282,207 (GRCm39)	P115S	probably damaging	Het
Trmt10a	C	T	3: 137,855,279 (GRCm39)	P139L	probably damaging	Het
Zfp113	T	C	5: 138,143,051 (GRCm39)	S400G	probably benign	Het

Other mutations in Adipor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Adipor1	APN	1	134,358,923 (GRCm39)	missense	probably benign	0.07
IGL02186:Adipor1	APN	1	134,353,698 (GRCm39)	missense	probably benign	0.02
IGL03365:Adipor1	APN	1	134,359,380 (GRCm39)	missense	possibly damaging	0.67
BB001:Adipor1	UTSW	1	134,353,731 (GRCm39)	missense	probably damaging	1.00
BB011:Adipor1	UTSW	1	134,353,731 (GRCm39)	missense	probably damaging	1.00
R1625:Adipor1	UTSW	1	134,351,802 (GRCm39)	missense	possibly damaging	0.88
R1938:Adipor1	UTSW	1	134,350,841 (GRCm39)	missense	probably benign	0.03
R1956:Adipor1	UTSW	1	134,350,771 (GRCm39)	missense	probably benign	0.00
R1957:Adipor1	UTSW	1	134,350,771 (GRCm39)	missense	probably benign	0.00
R1958:Adipor1	UTSW	1	134,350,771 (GRCm39)	missense	probably benign	0.00
R2921:Adipor1	UTSW	1	134,353,731 (GRCm39)	missense	possibly damaging	0.90
R4666:Adipor1	UTSW	1	134,352,643 (GRCm39)	missense	probably damaging	1.00
R5560:Adipor1	UTSW	1	134,353,778 (GRCm39)	missense	possibly damaging	0.69
R5795:Adipor1	UTSW	1	134,352,641 (GRCm39)	missense	probably damaging	1.00
R7924:Adipor1	UTSW	1	134,353,731 (GRCm39)	missense	probably damaging	1.00
R8317:Adipor1	UTSW	1	134,355,905 (GRCm39)	missense	probably benign	0.03
R9489:Adipor1	UTSW	1	134,352,553 (GRCm39)	missense	probably damaging	1.00
R9605:Adipor1	UTSW	1	134,352,553 (GRCm39)	missense	probably damaging	1.00
R9641:Adipor1	UTSW	1	134,355,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCAGAAACGTGCAGTTTAGGAG -3'
(R):5'- TGTGTGGGCATACAAGTGCAACAG -3'

Sequencing Primer
(F):5'- AAACGTGCAGTTTAGGAGTTGATG -3'
(R):5'- TCCCACAATTTGTGAGAATTACTC -3'

Posted On

2013-11-08