Mutagenetix > Incidental Mutation

Incidental Mutation 'R5248:Adora1'

398606

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

042819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5248 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134126961-134163169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134131224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 149 (L149Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140801 (fasta)

Gene Model

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

AlphaFold

Q60612

Predicted Effect

probably benign
Transcript: ENSMUST00000038191
AA Change: L149Q

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: L149Q

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 benign
Transcript: ENSMUST00000086465
AA Change: L149Q

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: L149Q

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: ENSMUST00000169927
AA Change: L149Q

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: L149Q

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

possibly damaging
Transcript: ENSMUST00000187631
AA Change: L149Q

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140801
Gene: ENSMUSG00000042429
AA Change: L149Q

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,437 (GRCm39)	E344D	probably benign	Het
Acoxl	G	A	2: 127,917,855 (GRCm39)		probably null	Het
Aebp1	C	A	11: 5,818,501 (GRCm39)	D115E	possibly damaging	Het
Ank3	A	G	10: 69,822,938 (GRCm39)	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,706,539 (GRCm39)	H454R	probably damaging	Het
Ap4e1	C	T	2: 126,906,842 (GRCm39)	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,522,849 (GRCm39)	F328L	probably benign	Het
Bbip1	G	A	19: 53,919,786 (GRCm39)		probably benign	Het
Brsk1	G	A	7: 4,711,865 (GRCm39)	E572K	possibly damaging	Het
Clca3a1	G	T	3: 144,442,897 (GRCm39)	P716T	possibly damaging	Het
Clpx	T	C	9: 65,228,132 (GRCm39)	V380A	probably damaging	Het
Epha3	T	A	16: 63,418,620 (GRCm39)	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,491,089 (GRCm39)	P712T	probably damaging	Het
Itpr1	C	A	6: 108,519,023 (GRCm39)	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,548,735 (GRCm39)	E1080G	probably benign	Het
Macf1	G	A	4: 123,295,567 (GRCm39)	R3163*	probably null	Het
Map4k5	T	C	12: 69,888,755 (GRCm39)	D292G	probably benign	Het
Mau2	A	T	8: 70,481,373 (GRCm39)	C217S	probably benign	Het
Mtf1	T	C	4: 124,714,220 (GRCm39)	F210L	probably damaging	Het
Mtif2	G	A	11: 29,486,889 (GRCm39)	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,694,905 (GRCm39)		probably benign	Het
Mybpc3	C	A	2: 90,955,573 (GRCm39)		probably null	Het
Ncmap	T	C	4: 135,107,430 (GRCm39)		probably null	Het
Nek9	A	G	12: 85,355,751 (GRCm39)	F672S	probably damaging	Het
Nuak1	A	T	10: 84,245,542 (GRCm39)	I101N	probably damaging	Het
Or8s16	T	C	15: 98,211,311 (GRCm39)	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,286,515 (GRCm39)	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,618,939 (GRCm39)	Q243P	probably benign	Het
Pcf11	T	G	7: 92,310,699 (GRCm39)	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,604,769 (GRCm39)	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,900 (GRCm39)	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,542,050 (GRCm39)		probably null	Het
Rhobtb1	A	G	10: 69,084,615 (GRCm39)	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110 (GRCm39)	C110*	probably null	Het
Setx	T	A	2: 29,038,430 (GRCm39)	N1638K	probably benign	Het
Slc24a3	A	T	2: 145,446,437 (GRCm39)	M282L	probably benign	Het
Slc7a1	A	T	5: 148,270,798 (GRCm39)	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,077,407 (GRCm39)	D69V	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tas2r120	A	T	6: 132,634,110 (GRCm39)	N64I	probably damaging	Het
Tcf25	G	T	8: 124,100,678 (GRCm39)	A23S	probably damaging	Het
Tigd2	A	T	6: 59,188,138 (GRCm39)	K335I	probably damaging	Het
Tlr6	A	G	5: 65,112,647 (GRCm39)	S87P	probably benign	Het
Tmem135	T	A	7: 88,797,200 (GRCm39)	Y352F	probably damaging	Het
Tob2	T	C	15: 81,735,918 (GRCm39)	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Vmn1r179	T	C	7: 23,628,478 (GRCm39)	V223A	probably damaging	Het
Zfp946	T	C	17: 22,673,447 (GRCm39)	V67A	probably benign	Het
Zswim4	G	T	8: 84,946,561 (GRCm39)	N698K	probably benign	Het
Zzz3	A	G	3: 152,133,182 (GRCm39)	Q80R	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTGCGGATCAGGTAGAAG -3'
(R):5'- TCACTCTAGACCTTAGACGTGTAG -3'

Sequencing Primer
(F):5'- ACCATGTACTCCATGCTG -3'
(R):5'- TCTAGACCTTAGACGTGTAGAAGCC -3'

Posted On

2016-07-06