Mutagenetix > Incidental Mutation

Incidental Mutation 'R8780:Adgrd1'

670201

Institutional Source

Beutler Lab

Gene Symbol

Adgrd1

Ensembl Gene

ENSMUSG00000044017

Gene Name

adhesion G protein-coupled receptor D1

Synonyms

E230012M21Rik, Gpr133

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8780 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

129096750-129204599 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 129097074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056617] [ENSMUST00000156437]

AlphaFold

Q80T32

Predicted Effect

probably benign
Transcript: ENSMUST00000056617

SMART Domains

Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Laminin_G_3	119	273	2.9e-18	PFAM
Pfam:Pentaxin	171	288	2.2e-7	PFAM
GPS	535	585	1.57e-14	SMART
Pfam:Dicty_CAR	590	856	1.2e-8	PFAM
Pfam:7tm_2	592	831	8e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156437

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	A	G	11: 105,997,538	D358G	probably damaging	Het
Aff4	C	A	11: 53,380,617	T327K	probably damaging	Het
Ajap1	A	G	4: 153,386,504	V282A	probably damaging	Het
Arrb1	A	G	7: 99,591,361	D194G	probably benign	Het
Atp1a3	T	C	7: 24,981,554	N836S	probably damaging	Het
BC024978	T	C	7: 27,201,078	S161P	probably benign	Het
C1ql3	A	G	2: 13,010,756	V31A	probably benign	Het
Cc2d2a	A	G	5: 43,739,350	T1530A	probably damaging	Het
Cenpc1	A	T	5: 86,016,350	I804K	probably damaging	Het
Chmp2b	G	A	16: 65,562,536		probably benign	Het
Chrm5	T	A	2: 112,480,108	E221V	possibly damaging	Het
Col22a1	A	T	15: 72,006,947	H120Q	probably damaging	Het
Esp16	C	T	17: 39,539,838	A36V	probably damaging	Het
Fn1	A	T	1: 71,643,149	S283T	probably benign	Het
Gm340	C	T	19: 41,585,259	R818W	probably damaging	Het
Hipk3	A	G	2: 104,433,834	L773S	probably damaging	Het
Morn3	A	G	5: 123,037,762	W188R	probably damaging	Het
Msantd2	T	G	9: 37,523,502	L547R	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Olfr1234	A	T	2: 89,363,308	N40K	probably damaging	Het
Olfr857	T	C	9: 19,713,357	F177L	possibly damaging	Het
Pcdhga5	G	A	18: 37,695,773	V425I	probably benign	Het
Pdxk	T	A	10: 78,447,952	Y136F	probably benign	Het
Prr14	T	C	7: 127,476,238	F503L	probably benign	Het
Prss54	T	C	8: 95,559,429	I339V	probably benign	Het
Repin1	T	C	6: 48,597,139	I334T	probably damaging	Het
Rnf219	A	T	14: 104,479,646	C430*	probably null	Het
Runx3	A	G	4: 135,155,409	D152G	probably damaging	Het
She	T	A	3: 89,831,949	I149N	probably damaging	Het
Stra6	A	G	9: 58,134,971		probably benign	Het
Svil	A	G	18: 5,063,449	T907A	probably benign	Het
Syvn1	A	G	19: 6,050,363	D288G	probably damaging	Het
Tacc1	T	C	8: 25,182,061	S384G	probably benign	Het
Tmc8	ACTTCCT	ACT	11: 117,790,732		probably null	Het
Trhr	T	C	15: 44,197,753	I223T	possibly damaging	Het
Vmn2r45	A	G	7: 8,481,372	I478T	possibly damaging	Het
Zbtb3	G	T	19: 8,803,809	R262M	possibly damaging	Het
Zfp516	T	C	18: 82,987,955	S995P	probably benign	Het
Zfp985	A	G	4: 147,583,955	I427V	possibly damaging	Het

Other mutations in Adgrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Adgrd1	APN	5	129139592	missense	probably benign	0.06
IGL01384:Adgrd1	APN	5	129097209	missense	possibly damaging	0.47
IGL01636:Adgrd1	APN	5	129142452	splice site	probably benign
IGL01916:Adgrd1	APN	5	129132838	missense	probably benign	0.12
IGL01923:Adgrd1	APN	5	129178079	missense	possibly damaging	0.58
IGL02019:Adgrd1	APN	5	129115138	missense	probably benign	0.00
IGL02142:Adgrd1	APN	5	129131584	missense	probably benign
IGL02149:Adgrd1	APN	5	129179261	missense	probably damaging	1.00
IGL02190:Adgrd1	APN	5	129140724	splice site	probably benign
IGL02623:Adgrd1	APN	5	129132745	missense	probably damaging	0.99
IGL02696:Adgrd1	APN	5	129140854	splice site	probably benign
IGL02850:Adgrd1	APN	5	129115055	missense	probably damaging	1.00
IGL02976:Adgrd1	APN	5	129131597	missense	probably benign	0.00
IGL02988:Adgrd1	UTSW	5	129144010	missense	probably benign	0.00
PIT4458001:Adgrd1	UTSW	5	129131577	missense	probably damaging	1.00
R0081:Adgrd1	UTSW	5	129178082	missense	probably damaging	0.99
R0266:Adgrd1	UTSW	5	129139594	missense	probably benign	0.00
R0267:Adgrd1	UTSW	5	129139594	missense	probably benign	0.00
R0464:Adgrd1	UTSW	5	129162650	missense	probably damaging	1.00
R0625:Adgrd1	UTSW	5	129171931	critical splice donor site	probably null
R1288:Adgrd1	UTSW	5	129129007	missense	probably damaging	0.97
R1460:Adgrd1	UTSW	5	129122563	missense	possibly damaging	0.63
R1635:Adgrd1	UTSW	5	129128907	missense	probably damaging	1.00
R1658:Adgrd1	UTSW	5	129178100	missense	probably benign	0.02
R1709:Adgrd1	UTSW	5	129179228	missense	possibly damaging	0.95
R1897:Adgrd1	UTSW	5	129129001	missense	probably benign	0.01
R1976:Adgrd1	UTSW	5	129140797	missense	probably benign	0.06
R2049:Adgrd1	UTSW	5	129115095	missense	probably benign	0.01
R2259:Adgrd1	UTSW	5	129112311	missense	possibly damaging	0.92
R2295:Adgrd1	UTSW	5	129122506	missense	probably benign	0.13
R3076:Adgrd1	UTSW	5	129129105	missense	probably benign	0.20
R3077:Adgrd1	UTSW	5	129129105	missense	probably benign	0.20
R3078:Adgrd1	UTSW	5	129129105	missense	probably benign	0.20
R4581:Adgrd1	UTSW	5	129202531	missense	possibly damaging	0.68
R5024:Adgrd1	UTSW	5	129171895	missense	probably damaging	1.00
R5076:Adgrd1	UTSW	5	129143989	nonsense	probably null
R5227:Adgrd1	UTSW	5	129122583	missense	probably benign	0.00
R5453:Adgrd1	UTSW	5	129179583	missense	probably damaging	0.99
R6349:Adgrd1	UTSW	5	129142539	splice site	probably null
R6953:Adgrd1	UTSW	5	129115078	nonsense	probably null
R7300:Adgrd1	UTSW	5	129097347	critical splice donor site	probably null
R7583:Adgrd1	UTSW	5	129179588	missense	probably benign	0.42
R7622:Adgrd1	UTSW	5	129139624	missense	probably benign	0.27
R8205:Adgrd1	UTSW	5	129115111	missense	possibly damaging	0.94
R8716:Adgrd1	UTSW	5	129188371	missense	possibly damaging	0.94
R8850:Adgrd1	UTSW	5	129142510	missense	probably benign	0.00
R9528:Adgrd1	UTSW	5	129179676	missense	probably benign	0.44
R9569:Adgrd1	UTSW	5	129179637	missense	possibly damaging	0.90
R9626:Adgrd1	UTSW	5	129198657	missense	probably damaging	1.00
X0067:Adgrd1	UTSW	5	129188352	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GACACAGACTCCTAAGCCTGTAGG -3'
(R):5'- TTGGAGGCCAAGAGCGTTAC -3'

Sequencing Primer
(F):5'- CATCAGCAGCCAGAGCCTTG -3'
(R):5'- CGTTACCTGGACGCTGCAAAAG -3'

Posted On

2021-04-30