Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00957:Adora1'

26711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adora1

Ensembl Gene

ENSMUSG00000042429

Gene Name

adenosine A1 receptor

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00957

Quality Score

Status

Chromosome

Chromosomal Location

134126961-134163169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134130951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 240 (L240P)

Ref Sequence

ENSEMBL: ENSMUSP00000132105 (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: L240P

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

SMART Domains

Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: L240P

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: L240P

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

SMART Domains

Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: L240P

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: L240P

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

SMART Domains

Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: L240P

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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,573,470 (GRCm39)	I246N	probably benign	Het
Ago4	C	T	4: 126,410,926 (GRCm39)	V188I	probably benign	Het
Ccdc138	T	A	10: 58,364,838 (GRCm39)		probably benign	Het
Cpeb4	A	G	11: 31,823,204 (GRCm39)	Y306C	probably damaging	Het
Ctsz	T	C	2: 174,269,771 (GRCm39)	E272G	probably damaging	Het
Dst	G	A	1: 34,267,488 (GRCm39)	V5155I	probably benign	Het
Fabp12	C	T	3: 10,315,273 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hpcal1	G	A	12: 17,837,591 (GRCm39)	E142K	probably benign	Het
Hspa4	G	A	11: 53,171,514 (GRCm39)	T230I	probably benign	Het
Htt	T	C	5: 34,964,068 (GRCm39)	V387A	probably benign	Het
Loxl3	A	G	6: 83,025,747 (GRCm39)		probably benign	Het
Lrrc30	G	A	17: 67,939,499 (GRCm39)	S27L	probably benign	Het
Mtpn	A	G	6: 35,516,547 (GRCm39)		probably benign	Het
Mug2	A	G	6: 122,017,613 (GRCm39)	Y450C	probably damaging	Het
Ncl	A	G	1: 86,284,091 (GRCm39)		probably null	Het
Or8k23	A	T	2: 86,186,477 (GRCm39)	V83E	possibly damaging	Het
Psmd3	T	A	11: 98,576,394 (GRCm39)	S99T	probably benign	Het
Rb1cc1	G	A	1: 6,319,763 (GRCm39)	A1061T	probably damaging	Het
Rhbdd1	T	C	1: 82,318,362 (GRCm39)	Y82H	probably damaging	Het
Slc5a6	T	C	5: 31,196,279 (GRCm39)		probably benign	Het
Sox6	T	C	7: 115,376,327 (GRCm39)	K135R	probably damaging	Het
Tasor2	T	A	13: 3,627,101 (GRCm39)	I950F	possibly damaging	Het
Tbx21	A	G	11: 96,989,920 (GRCm39)	V424A	probably benign	Het
Trpa1	A	T	1: 14,951,892 (GRCm39)	Y936N	probably damaging	Het
Ttn	G	T	2: 76,569,280 (GRCm39)	D25458E	probably damaging	Het
Zfp629	C	T	7: 127,211,896 (GRCm39)	V6M	probably damaging	Het

Other mutations in Adora1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17