Mutagenetix > Incidental Mutation

Incidental Mutation 'BB011:Adipor1'

642609

Institutional Source

Beutler Lab

Gene Symbol

Adipor1

Ensembl Gene

ENSMUSG00000026457

Gene Name

adiponectin receptor 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

BB011

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134415378-134433351 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134425993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 172 (V172D)

Ref Sequence

ENSEMBL: ENSMUSP00000027727 (fasta)

Gene Model

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

AlphaFold

Q91VH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027727
AA Change: V172D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457
AA Change: V172D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112237
AA Change: V172D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457
AA Change: V172D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	G	A	16: 38,812,464 (GRCm38)	Q369*	probably null	Het
Acacb	A	G	5: 114,245,220 (GRCm38)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 83,729,400 (GRCm38)	P256S	possibly damaging	Het
Ahsa1	T	C	12: 87,270,456 (GRCm38)		probably null	Het
Ankrd11	T	C	8: 122,895,902 (GRCm38)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,525,545 (GRCm38)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,457,649 (GRCm38)	S65P	unknown	Het
Bbx	A	T	16: 50,224,308 (GRCm38)	L630H	probably damaging	Het
Cars	T	C	7: 143,569,871 (GRCm38)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,520,565 (GRCm38)	H450Q	probably benign	Het
Cdt1	T	C	8: 122,569,352 (GRCm38)	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833 (GRCm38)	H24L	probably benign	Het
Cnga4	T	A	7: 105,407,821 (GRCm38)	V480E	probably benign	Het
Cnot1	ACG	A	8: 95,745,647 (GRCm38)		probably null	Het
Ctcfl	G	A	2: 173,113,656 (GRCm38)	T271I	possibly damaging	Het
Dlc1	T	C	8: 36,571,416 (GRCm38)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,219,430 (GRCm38)	D1927G	probably benign	Het
Dscc1	A	T	15: 55,082,176 (GRCm38)	D374E	probably benign	Het
Eci2	G	A	13: 34,993,070 (GRCm38)	Q69*	probably null	Het
Ep300	C	A	15: 81,649,502 (GRCm38)	P1920Q	unknown	Het
Epha5	A	G	5: 84,084,846 (GRCm38)	Y629H	possibly damaging	Het
Fam208b	A	T	13: 3,594,331 (GRCm38)	F129Y	possibly damaging	Het
Fat2	G	A	11: 55,262,787 (GRCm38)	T3533I	probably benign	Het
Fat3	T	C	9: 15,999,297 (GRCm38)	N1803S	probably damaging	Het
Fcrls	T	C	3: 87,259,533 (GRCm38)	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214 (GRCm38)	D113E	unknown	Het
Gcnt2	A	T	13: 40,918,564 (GRCm38)	K228*	probably null	Het
Gucy2c	A	T	6: 136,763,055 (GRCm38)	V258E	probably benign	Het
Hecw1	C	A	13: 14,322,528 (GRCm38)	L298F	probably damaging	Het
Hydin	T	G	8: 110,418,471 (GRCm38)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,922,240 (GRCm38)	Y131C	probably damaging	Het
Ick	T	C	9: 78,155,464 (GRCm38)	L260P	probably damaging	Het
Mpo	A	G	11: 87,794,840 (GRCm38)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,378,283 (GRCm38)	*202Q	probably null	Het
Mrps14	T	C	1: 160,196,989 (GRCm38)	V30A	probably benign	Het
Mtmr7	G	A	8: 40,606,884 (GRCm38)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,695,388 (GRCm38)	G497W	probably damaging	Het
Nnt	A	T	13: 119,386,645 (GRCm38)	V237D	probably damaging	Het
Nox4	G	T	7: 87,374,381 (GRCm38)	V492L	probably benign	Het
Obscn	C	G	11: 59,112,555 (GRCm38)	E1306Q	probably benign	Het
Olfr303	A	G	7: 86,394,730 (GRCm38)	I256T	probably damaging	Het
Olfr993	T	C	2: 85,414,219 (GRCm38)	Y220C	probably benign	Het
Pard3	A	G	8: 127,410,750 (GRCm38)	N861S	probably benign	Het
Pdlim4	G	A	11: 54,055,222 (GRCm38)	R230*	probably null	Het
Pinlyp	C	T	7: 24,542,125 (GRCm38)	V159M	possibly damaging	Het
Plcb1	A	T	2: 135,359,693 (GRCm38)	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,310 (GRCm38)	D409V	possibly damaging	Het
Prom1	T	C	5: 44,029,769 (GRCm38)	D382G	probably benign	Het
Prss16	A	T	13: 22,008,664 (GRCm38)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,841,264 (GRCm38)	D133G	probably benign	Het
Rasef	C	T	4: 73,740,929 (GRCm38)		probably null	Het
Rbak	A	G	5: 143,174,486 (GRCm38)	S271P	probably damaging	Het
Rbm20	A	T	19: 53,677,585 (GRCm38)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,579,909 (GRCm38)		probably benign	Het
Serpinb3c	A	G	1: 107,273,174 (GRCm38)	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,615,550 (GRCm38)	Y211C	unknown	Het
Sorbs2	C	T	8: 45,795,470 (GRCm38)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,273,451 (GRCm38)	S58R	probably benign	Het
Spryd3	A	G	15: 102,118,327 (GRCm38)	I329T	probably benign	Het
St8sia2	G	A	7: 73,966,952 (GRCm38)	L113F	probably damaging	Het
Star	T	C	8: 25,809,855 (GRCm38)	I75T	possibly damaging	Het
Tdrd6	T	A	17: 43,627,806 (GRCm38)	I784F	possibly damaging	Het
Tsc22d4	A	G	5: 137,768,011 (GRCm38)	I144V	unknown	Het
Tspan8	T	C	10: 115,833,324 (GRCm38)		probably null	Het
Ttll9	C	T	2: 152,962,487 (GRCm38)		probably benign	Het
Ubr4	T	G	4: 139,467,276 (GRCm38)	L1160R	unknown	Het
Ufd1	A	G	16: 18,823,285 (GRCm38)	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,734,408 (GRCm38)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,410,951 (GRCm38)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,388 (GRCm38)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,282,279 (GRCm38)	E173G	probably damaging	Het
Zc3h6	T	C	2: 129,015,480 (GRCm38)	S640P	possibly damaging	Het

Other mutations in Adipor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Adipor1	APN	1	134,431,185 (GRCm38)	missense	probably benign	0.07
IGL02186:Adipor1	APN	1	134,425,960 (GRCm38)	missense	probably benign	0.02
IGL03365:Adipor1	APN	1	134,431,642 (GRCm38)	missense	possibly damaging	0.67
BB001:Adipor1	UTSW	1	134,425,993 (GRCm38)	missense	probably damaging	1.00
R0898:Adipor1	UTSW	1	134,424,076 (GRCm38)	critical splice donor site	probably null
R1625:Adipor1	UTSW	1	134,424,064 (GRCm38)	missense	possibly damaging	0.88
R1938:Adipor1	UTSW	1	134,423,103 (GRCm38)	missense	probably benign	0.03
R1956:Adipor1	UTSW	1	134,423,033 (GRCm38)	missense	probably benign	0.00
R1957:Adipor1	UTSW	1	134,423,033 (GRCm38)	missense	probably benign	0.00
R1958:Adipor1	UTSW	1	134,423,033 (GRCm38)	missense	probably benign	0.00
R2921:Adipor1	UTSW	1	134,425,993 (GRCm38)	missense	possibly damaging	0.90
R4666:Adipor1	UTSW	1	134,424,905 (GRCm38)	missense	probably damaging	1.00
R5560:Adipor1	UTSW	1	134,426,040 (GRCm38)	missense	possibly damaging	0.69
R5795:Adipor1	UTSW	1	134,424,903 (GRCm38)	missense	probably damaging	1.00
R7924:Adipor1	UTSW	1	134,425,993 (GRCm38)	missense	probably damaging	1.00
R8317:Adipor1	UTSW	1	134,428,167 (GRCm38)	missense	probably benign	0.03
R9489:Adipor1	UTSW	1	134,424,815 (GRCm38)	missense	probably damaging	1.00
R9605:Adipor1	UTSW	1	134,424,815 (GRCm38)	missense	probably damaging	1.00
R9641:Adipor1	UTSW	1	134,428,140 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGATGGCAGTTCACATAGC -3'
(R):5'- CGTTAAGAATTCCAGCAGCTC -3'

Sequencing Primer
(F):5'- GATGGCAGTTCACATAGCTAATTCCC -3'
(R):5'- GTTAAGAATTCCAGCAGCTCCAAGTG -3'

Posted On

2020-08-01