Mutagenetix > Incidental Mutation

Incidental Mutation 'R5327:Adora1'

422010

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

042910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134126961-134163169 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 134130748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 308 (R308*)

Ref Sequence

ENSEMBL: ENSMUSP00000132105 (fasta)

Gene Model

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

AlphaFold

Q60612

Predicted Effect

probably null
Transcript: ENSMUST00000038191
AA Change: R308*

SMART Domains

Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: R308*

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 null
Transcript: ENSMUST00000086465
AA Change: R308*

SMART Domains

Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: R308*

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 null
Transcript: ENSMUST00000169927
AA Change: R308*

SMART Domains

Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: R308*

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 benign
Transcript: ENSMUST00000187631

SMART Domains

Protein: ENSMUSP00000140801
Gene: ENSMUSG00000042429

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (101/101)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,668,740 (GRCm39)	S36G	probably damaging	Het
Aarsd1	T	C	11: 101,301,203 (GRCm39)	N280D	probably benign	Het
Abca2	T	A	2: 25,335,686 (GRCm39)	M2099K	probably damaging	Het
Abcb5	T	A	12: 118,875,278 (GRCm39)	E631D	probably benign	Het
Acss2	T	A	2: 155,415,149 (GRCm39)	L682Q	probably null	Het
Adamts14	G	A	10: 61,034,267 (GRCm39)	P1207L	probably benign	Het
Arcn1	A	T	9: 44,668,444 (GRCm39)	V264E	probably benign	Het
B3galt1	G	A	2: 67,949,112 (GRCm39)	G276S	probably damaging	Het
Bms1	A	T	6: 118,382,179 (GRCm39)	M453K	possibly damaging	Het
Bnip3l	T	C	14: 67,225,180 (GRCm39)	Y218C	probably damaging	Het
Cacna2d2	A	G	9: 107,390,805 (GRCm39)	E379G	probably null	Het
Cacng6	G	A	7: 3,483,376 (GRCm39)	G235R	probably damaging	Het
Capn8	A	T	1: 182,456,169 (GRCm39)	T640S	probably benign	Het
Ccdc106	T	C	7: 5,063,159 (GRCm39)		probably benign	Het
Ccdc33	A	T	9: 57,993,860 (GRCm39)	N95K	probably benign	Het
Celsr3	T	A	9: 108,719,907 (GRCm39)		probably benign	Het
Cemip	A	T	7: 83,604,509 (GRCm39)	N844K	probably damaging	Het
Chrdl2	A	T	7: 99,677,948 (GRCm39)	T284S	probably damaging	Het
Ckm	A	G	7: 19,154,090 (GRCm39)	Y279C	probably damaging	Het
Clvs1	A	T	4: 9,424,261 (GRCm39)	I236F	probably damaging	Het
Col9a1	T	C	1: 24,234,620 (GRCm39)		probably null	Het
Csmd1	T	C	8: 17,266,728 (GRCm39)	E66G	possibly damaging	Het
Ctdsp2	A	G	10: 126,831,923 (GRCm39)	D26G	probably damaging	Het
Ctsll3	C	A	13: 60,946,721 (GRCm39)		probably null	Het
Cyp2d12	A	T	15: 82,439,423 (GRCm39)	M26L	probably benign	Het
Cyp8b1	C	T	9: 121,743,950 (GRCm39)	D461N	probably damaging	Het
Dbt	A	T	3: 116,322,220 (GRCm39)		probably benign	Het
Dnah7c	A	G	1: 46,704,728 (GRCm39)	D2247G	probably benign	Het
Dsg1c	A	G	18: 20,400,994 (GRCm39)	I166V	possibly damaging	Het
Duoxa1	T	A	2: 122,134,361 (GRCm39)	E252D	probably damaging	Het
Ezr	T	A	17: 7,020,448 (GRCm39)	K211M	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fahd2a	T	C	2: 127,283,878 (GRCm39)	D54G	possibly damaging	Het
Fbxo9	A	T	9: 78,003,146 (GRCm39)		probably null	Het
Fndc1	A	G	17: 7,991,540 (GRCm39)	S719P	unknown	Het
Gas7	G	T	11: 67,552,916 (GRCm39)	G159C	probably damaging	Het
Gba2	T	C	4: 43,574,063 (GRCm39)	D130G	probably damaging	Het
Gli3	T	G	13: 15,723,092 (GRCm39)	S78A	probably damaging	Het
Gtpbp6	A	G	5: 110,254,770 (GRCm39)	F101S	probably damaging	Het
Gzme	G	A	14: 56,355,224 (GRCm39)	H236Y	probably benign	Het
Hira	T	C	16: 18,773,508 (GRCm39)	Y943H	probably damaging	Het
Hmbox1	G	A	14: 65,134,144 (GRCm39)	S152L	possibly damaging	Het
Ibtk	A	G	9: 85,619,519 (GRCm39)		probably null	Het
Jade1	T	C	3: 41,568,413 (GRCm39)	I827T	possibly damaging	Het
Jakmip3	A	T	7: 138,627,164 (GRCm39)	E389D	possibly damaging	Het
Klhdc8b	A	T	9: 108,326,241 (GRCm39)		probably benign	Het
Lama2	T	C	10: 27,014,942 (GRCm39)	T1589A	probably benign	Het
Lbx2	A	C	6: 83,064,784 (GRCm39)	K107T	probably damaging	Het
Ldha	A	G	7: 46,503,522 (GRCm39)	M259V	probably benign	Het
Lrrtm4	A	G	6: 79,999,620 (GRCm39)	K344R	probably damaging	Het
Ltb	A	T	17: 35,414,935 (GRCm39)	E245V	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Map3k13	T	A	16: 21,740,397 (GRCm39)	S575T	possibly damaging	Het
Mcpt2	A	T	14: 56,280,833 (GRCm39)	I74F	probably damaging	Het
Mpeg1	T	A	19: 12,439,013 (GRCm39)	V157D	probably damaging	Het
Mrpl21	A	T	19: 3,337,009 (GRCm39)		probably null	Het
Nagpa	T	C	16: 5,017,877 (GRCm39)	T99A	possibly damaging	Het
Nphs1	A	T	7: 30,163,250 (GRCm39)	I469F	probably benign	Het
Nyap2	A	G	1: 81,169,756 (GRCm39)	E171G	possibly damaging	Het
Oas1e	A	G	5: 120,930,006 (GRCm39)	Y171H	probably damaging	Het
Or10ag59	T	A	2: 87,406,043 (GRCm39)	V205D	probably damaging	Het
Or2y1f	T	C	11: 49,184,493 (GRCm39)	L115P	probably damaging	Het
Or5ac23	T	C	16: 59,149,461 (GRCm39)	K137R	probably benign	Het
Or5h26	T	C	16: 58,987,983 (GRCm39)	I174M	possibly damaging	Het
Otud7b	C	A	3: 96,063,055 (GRCm39)	Q765K	probably benign	Het
Pdzd7	A	G	19: 45,017,216 (GRCm39)	V851A	probably benign	Het
Pi4ka	T	G	16: 17,143,277 (GRCm39)	K794T	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,258 (GRCm39)	N2588K	probably damaging	Het
Pla2g6	A	T	15: 79,186,837 (GRCm39)	M471K	probably benign	Het
Plagl2	T	C	2: 153,077,759 (GRCm39)	H74R	possibly damaging	Het
Prf1	T	A	10: 61,136,037 (GRCm39)	N104K	probably benign	Het
Ptprf	A	T	4: 118,093,586 (GRCm39)	I358N	probably damaging	Het
Rcsd1	A	G	1: 165,482,872 (GRCm39)		probably null	Het
Rev1	G	A	1: 38,147,532 (GRCm39)	R3*	probably null	Het
Rp1	T	C	1: 4,419,583 (GRCm39)		probably null	Het
Rrp12	G	A	19: 41,881,035 (GRCm39)	T132I	probably damaging	Het
Sema3a	T	C	5: 13,649,357 (GRCm39)	V702A	probably benign	Het
Serpinb12	A	G	1: 106,884,174 (GRCm39)	N307D	probably damaging	Het
Slc35d1	A	G	4: 103,070,383 (GRCm39)	L103P	probably damaging	Het
Smyd4	T	C	11: 75,281,765 (GRCm39)	C413R	probably damaging	Het
Stab1	G	A	14: 30,883,793 (GRCm39)	Q255*	probably null	Het
Synpo	T	A	18: 60,736,918 (GRCm39)	I343F	possibly damaging	Het
Tcirg1	A	G	19: 3,952,342 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,816 (GRCm39)	T996A	possibly damaging	Het
Trim10	A	G	17: 37,181,081 (GRCm39)	E104G	probably damaging	Het
Trpc1	T	C	9: 95,603,524 (GRCm39)		probably null	Het
Tspo2	A	T	17: 48,756,887 (GRCm39)		probably benign	Het
Ugt2a3	A	T	5: 87,479,174 (GRCm39)	I258N	probably damaging	Het
Usp34	T	C	11: 23,418,846 (GRCm39)	L2998P	probably damaging	Het
Vmn1r45	A	C	6: 89,910,123 (GRCm39)	D162E	possibly damaging	Het
Vmn2r117	A	T	17: 23,696,848 (GRCm39)	Y186*	probably null	Het
Vmn2r67	A	G	7: 84,785,698 (GRCm39)	F769S	probably damaging	Het
Zbtb17	A	G	4: 141,192,942 (GRCm39)	I514V	probably benign	Het
Zfp329	A	C	7: 12,545,421 (GRCm39)	D34E	probably benign	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
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
R7844:Adora1	UTSW	1	134,131,276 (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'- TTACAGAAGGGGCCCTGTTC -3'
(R):5'- GCTACACATCTTGAACTGCATC -3'

Sequencing Primer
(F):5'- GTTCCATGGCATCTCTTCAGAG -3'
(R):5'- ACATCTTGAACTGCATCACCCTC -3'

Posted On

2016-08-04