Mutagenetix > Incidental Mutation

Incidental Mutation 'R7844:Adora1'

606487

Institutional Source

Beutler Lab

Gene Symbol

Adora1

Ensembl Gene

ENSMUSG00000042429

Gene Name

adenosine A1 receptor

Synonyms

A1-AR, A1R, Ri, ARA1, AA1R, A1AR

MMRRC Submission

045898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134126961-134163169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134131276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 132 (W132R)

Ref Sequence

ENSEMBL: ENSMUSP00000043522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038191] [ENSMUST00000038445] [ENSMUST00000086465] [ENSMUST00000169927] [ENSMUST00000187631] [ENSMUST00000191577]

AlphaFold

Q60612

Predicted Effect

probably damaging
Transcript: ENSMUST00000038191
AA Change: W132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: W132R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	17	305	1.1e-10	PFAM
Pfam:7TM_GPCR_Srsx	20	303	5e-14	PFAM
Pfam:7tm_1	26	288	9.8e-52	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038445

SMART Domains

Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451

Domain	Start	End	E-Value	Type
low complexity region	41	66	N/A	INTRINSIC
FN3	77	160	4.84e-9	SMART
IG	187	270	9.78e-7	SMART
FN3	273	355	1.1e-7	SMART
IGc2	400	467	1.38e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086465
AA Change: W132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: W132R

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	20	303	5e-14	PFAM
Pfam:7tm_1	26	288	1.9e-63	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169927
AA Change: W132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: W132R

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	20	303	5e-14	PFAM
Pfam:7tm_1	26	288	1.9e-63	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187631
AA Change: W132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140801
Gene: ENSMUSG00000042429
AA Change: W132R

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	17	146	1.2e-4	PFAM
Pfam:7TM_GPCR_Srsx	20	148	1.6e-9	PFAM
Pfam:7tm_1	26	176	1.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191577

SMART Domains

Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451

Domain	Start	End	E-Value	Type
low complexity region	41	66	N/A	INTRINSIC
FN3	77	160	4.84e-9	SMART
IG	187	270	9.78e-7	SMART
FN3	273	355	1.1e-7	SMART
IGc2	400	467	1.38e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele exhibit allodynia, hyperalgesia, increased anxiety, and decreased hypoxic neuroprotection. Homozygotes for a different null allele show increased susceptibility to kidney reperfusion injury and absent tubuloglomerular feedback response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,423 (GRCm39)	E65G	unknown	Het
Aadacl2fm2	A	T	3: 59,637,318 (GRCm39)	I27F	probably benign	Het
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792 (GRCm38)	H55P	probably benign	Het
Acox3	A	T	5: 35,764,492 (GRCm39)	Q535L	probably benign	Het
Armc3	A	G	2: 19,258,829 (GRCm39)	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,901,039 (GRCm39)	D956G	possibly damaging	Het
Bptf	C	A	11: 106,964,887 (GRCm39)	V1436F	probably damaging	Het
Brd9	A	G	13: 74,086,652 (GRCm39)	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,873 (GRCm39)	W453R	probably damaging	Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Col4a2	G	T	8: 11,475,453 (GRCm39)	E626*	probably null	Het
Dpp8	A	G	9: 64,952,949 (GRCm39)	I208M	probably damaging	Het
Evi5	T	C	5: 108,022,860 (GRCm39)	R16G	probably benign	Het
Gabrg1	T	C	5: 70,931,675 (GRCm39)	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,242,147 (GRCm39)	V94L	probably benign	Het
Gm4884	A	C	7: 40,690,122 (GRCm39)	Q6P	probably benign	Het
Gm9767	A	T	10: 25,954,255 (GRCm39)		probably benign	Het
Gopc	T	C	10: 52,215,845 (GRCm39)	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,538,873 (GRCm39)	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,166,132 (GRCm39)	T76S	probably damaging	Het
Inhbe	A	G	10: 127,186,779 (GRCm39)	S134P	possibly damaging	Het
Inpp4b	G	A	8: 82,467,949 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,322,062 (GRCm39)	V556A	probably benign	Het
Klhdc2	T	A	12: 69,349,180 (GRCm39)	F106I	probably damaging	Het
Krt7	G	A	15: 101,310,515 (GRCm39)	G54D	possibly damaging	Het
Mecom	T	G	3: 30,063,973 (GRCm39)	Y39S	unknown	Het
Mrpl49	C	T	19: 6,105,200 (GRCm39)	R87H	probably damaging	Het
Nfat5	A	G	8: 108,085,300 (GRCm39)	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,262,006 (GRCm39)	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or52d1	T	G	7: 103,755,690 (GRCm39)	L68W	probably damaging	Het
Pigu	A	C	2: 155,134,640 (GRCm39)	Y388*	probably null	Het
Pirb	A	T	7: 3,722,410 (GRCm39)	C144*	probably null	Het
Pkm	A	G	9: 59,578,005 (GRCm39)	H274R	probably benign	Het
Plch2	C	A	4: 155,073,922 (GRCm39)	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173 (GRCm39)	K596Q	probably damaging	Het
Scaper	A	T	9: 55,722,732 (GRCm39)	M692K	probably benign	Het
Serpine1	C	A	5: 137,100,043 (GRCm39)	G39*	probably null	Het
Serpine2	T	C	1: 79,794,516 (GRCm39)	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,444,267 (GRCm39)	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,330,448 (GRCm39)	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,711,088 (GRCm39)		probably null	Het
Snrnp48	A	G	13: 38,393,965 (GRCm39)	E90G	probably null	Het
Spaca7b	A	T	8: 11,706,174 (GRCm39)	I120K	probably benign	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
Spon1	G	A	7: 113,629,567 (GRCm39)	V404I	probably benign	Het
Tada3	C	T	6: 113,347,921 (GRCm39)	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,142,815 (GRCm39)		probably null	Het
Tdrd9	A	G	12: 111,964,386 (GRCm39)	Y336C	possibly damaging	Het
Timm44	A	G	8: 4,319,976 (GRCm39)	L64P	possibly damaging	Het
Tpo	A	G	12: 30,150,404 (GRCm39)	L492P	probably damaging	Het
Trip11	T	G	12: 101,844,403 (GRCm39)	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,759,340 (GRCm39)	I1148T	probably benign	Het
Tshz1	T	C	18: 84,032,296 (GRCm39)	E704G	probably benign	Het
Tysnd1	C	T	10: 61,537,944 (GRCm39)	R541*	probably null	Het

Other mutations in Adora1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Adora1	APN	1	134,130,951 (GRCm39)	missense	probably damaging	1.00
IGL01641:Adora1	APN	1	134,161,852 (GRCm39)	missense	probably damaging	1.00
IGL03025:Adora1	APN	1	134,130,807 (GRCm39)	missense	probably damaging	1.00
R4378:Adora1	UTSW	1	134,130,948 (GRCm39)	missense	probably damaging	0.96
R5248:Adora1	UTSW	1	134,131,224 (GRCm39)	missense	possibly damaging	0.49
R5327:Adora1	UTSW	1	134,130,748 (GRCm39)	nonsense	probably null
R5408:Adora1	UTSW	1	134,130,901 (GRCm39)	missense	probably benign	0.02
R6810:Adora1	UTSW	1	134,161,777 (GRCm39)	missense	probably damaging	1.00
R7952:Adora1	UTSW	1	134,131,024 (GRCm39)	missense	possibly damaging	0.90
R8241:Adora1	UTSW	1	134,131,062 (GRCm39)	missense	probably damaging	1.00
X0028:Adora1	UTSW	1	134,131,314 (GRCm39)	missense	probably damaging	0.99
Z1177:Adora1	UTSW	1	134,161,966 (GRCm39)	missense	possibly damaging	0.69
Z1177:Adora1	UTSW	1	134,161,862 (GRCm39)	missense	possibly damaging	0.64
Z1177:Adora1	UTSW	1	134,130,747 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTGCGGATCAGGTAGAAG -3'
(R):5'- ACTCACTCTAGACCTTAGACGTG -3'

Sequencing Primer
(F):5'- CCTCCAGGTAGATAAGAACCATGAG -3'
(R):5'- CTCTAGACCTTAGACGTGTAGAAGC -3'

Posted On

2019-12-20