Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Adgrd1'

566919

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 #

R7300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129096750-129204599 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 129097347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060307 (fasta)

Gene Model

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

AlphaFold

Q80T32

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000156437

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017

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

Meta Mutation Damage Score

0.9480

Coding Region Coverage

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

Validation Efficiency

94% (45/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	C	9: 95,865,370	I235T	probably benign	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Bpifb5	A	G	2: 154,228,146	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,644,266	I420N	probably damaging	Het
C330027C09Rik	A	G	16: 49,013,854	K631E	probably damaging	Het
Ccdc141	G	A	2: 77,014,694	T1343I	probably benign	Het
Cd59b	A	T	2: 104,084,450	K64N	possibly damaging	Het
Cd63	A	G	10: 128,912,165	N144S	probably benign	Het
Col4a4	C	T	1: 82,486,640	R989Q	unknown	Het
Cyp4a31	A	G	4: 115,570,271	T225A	probably benign	Het
Dnah1	T	G	14: 31,269,841	E3068A	probably benign	Het
Fpgt	C	T	3: 155,086,975	V472I	probably damaging	Het
Gm3147	A	T	5: 94,612,796	D340E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Homer3	T	C	8: 70,285,303	M1T	probably null	Het
Ighv1-4	T	C	12: 114,487,288	I67V	probably benign	Het
Il17ra	A	G	6: 120,482,102	D738G	probably benign	Het
Il2ra	A	G	2: 11,676,910	T109A	not run	Het
Itgb6	T	C	2: 60,605,306	D700G	probably benign	Het
Krt31	T	C	11: 100,047,786	E327G	probably damaging	Het
Large1	A	C	8: 72,837,596	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076	V81M	probably damaging	Het
Mstn	T	C	1: 53,064,080	S192P	probably benign	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr1061	T	C	2: 86,413,986	E22G	probably null	Het
Olfr135	A	C	17: 38,208,697	T151P	possibly damaging	Het
Olfr1386	C	T	11: 49,470,646	T165I	probably benign	Het
Olfr556	A	G	7: 102,670,210	S97G	probably benign	Het
Olfr60	A	T	7: 140,345,355	N211K	probably damaging	Het
Olfr829	T	C	9: 18,857,234	I194T	not run	Het
Pde4a	T	C	9: 21,206,322	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,879,510	I102T	probably damaging	Het
Phldb2	A	G	16: 45,825,562	S174P	probably damaging	Het
Pla2g4e	C	T	2: 120,191,199	V143I	probably damaging	Het
Pou4f2	C	T	8: 78,436,106		probably null	Het
Ppl	C	T	16: 5,102,371	V387M	possibly damaging	Het
Rarg	A	T	15: 102,252,417		probably null	Het
Ryr1	T	C	7: 29,059,511	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,607,323	*375K	probably null	Het
Sim1	C	T	10: 50,909,518	H228Y	probably benign	Het
Spag4	A	T	2: 156,065,621	H87L	probably benign	Het
Ttc17	A	T	2: 94,375,134	L289Q	probably damaging	Het
Ubac2	T	C	14: 121,905,174	L28P	probably damaging	Het
Vmn2r31	C	A	7: 7,384,776	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,940,544	V2196A	probably benign	Het
Zswim5	A	T	4: 116,975,905	I612F	probably damaging	Het
Zzef1	T	A	11: 72,875,004	H1452Q	probably benign	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
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
R8780:Adgrd1	UTSW	5	129097074	start gained	probably benign
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'- ATGAAGGATCTTCCAGCATTCC -3'
(R):5'- GGACAGAGACCAGCTTTCTCAG -3'

Sequencing Primer
(F):5'- AGCATTCCCTTGCAGCTGG -3'
(R):5'- TTCTCAGCAGCAGCCCGAAG -3'

Posted On

2019-06-26