Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Adipor1'

436488

Institutional Source

Beutler Lab

Gene Symbol

Adipor1

Ensembl Gene

ENSMUSG00000026457

Gene Name

adiponectin receptor 1

Synonyms

MMRRC Submission

043117-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134415378-134433351 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134426040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 188 (W188R)

Ref Sequence

ENSEMBL: ENSMUSP00000107856 (fasta)

Gene Model

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

AlphaFold

Q91VH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027727
AA Change: W188R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457
AA Change: W188R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112237
AA Change: W188R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457
AA Change: W188R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Agrn	T	C	4: 156,178,497	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490	S570P	probably benign	Het
Ano9	C	G	7: 141,110,482	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,634,437	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393	M446L	probably damaging	Het
D430042O09Rik	T	C	7: 125,854,561	V1150A	probably benign	Het
Dennd2c	T	A	3: 103,161,555	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dusp6	A	G	10: 99,266,241	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697	T57S	probably damaging	Het
Gjc2	A	G	11: 59,177,359	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,709,092		probably benign	Het
Gpr158	A	G	2: 21,826,290	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmgcs1	A	G	13: 119,699,815		probably null	Het
Invs	A	T	4: 48,416,084	T655S	probably benign	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Kcnj6	A	T	16: 94,832,965	L96M	probably benign	Het
Lfng	A	G	5: 140,614,267	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863	M1K	probably null	Het
Mical1	A	T	10: 41,478,965	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184	E2A	probably benign	Het
Omg	A	G	11: 79,501,758	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567	V2124A	probably damaging	Het
Trpm4	A	T	7: 45,310,332	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,362,676	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713	E85G	possibly damaging	Het

Other mutations in Adipor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Adipor1	APN	1	134431185	missense	probably benign	0.07
IGL02186:Adipor1	APN	1	134425960	missense	probably benign	0.02
IGL03365:Adipor1	APN	1	134431642	missense	possibly damaging	0.67
BB001:Adipor1	UTSW	1	134425993	missense	probably damaging	1.00
BB011:Adipor1	UTSW	1	134425993	missense	probably damaging	1.00
R0898:Adipor1	UTSW	1	134424076	critical splice donor site	probably null
R1625:Adipor1	UTSW	1	134424064	missense	possibly damaging	0.88
R1938:Adipor1	UTSW	1	134423103	missense	probably benign	0.03
R1956:Adipor1	UTSW	1	134423033	missense	probably benign	0.00
R1957:Adipor1	UTSW	1	134423033	missense	probably benign	0.00
R1958:Adipor1	UTSW	1	134423033	missense	probably benign	0.00
R2921:Adipor1	UTSW	1	134425993	missense	possibly damaging	0.90
R4666:Adipor1	UTSW	1	134424905	missense	probably damaging	1.00
R5795:Adipor1	UTSW	1	134424903	missense	probably damaging	1.00
R7924:Adipor1	UTSW	1	134425993	missense	probably damaging	1.00
R8317:Adipor1	UTSW	1	134428167	missense	probably benign	0.03
R9489:Adipor1	UTSW	1	134424815	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGATAGAAACAGTGGCTGCC -3'
(R):5'- AGAAAACTTCACTTCCCCGG -3'

Sequencing Primer
(F):5'- GTGTAGTCCAGATTTCCTCACGG -3'
(R):5'- GGCACAACAGGGATCCGTTAAG -3'

Posted On

2016-10-24