Mutagenetix > Incidental Mutation

Incidental Mutation 'R8850:Adgrd1'

674940

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 #

R8850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129096750-129204599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129142510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 465 (K465E)

Ref Sequence

ENSEMBL: ENSMUSP00000060307 (fasta)

Gene Model

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

AlphaFold

Q80T32

Predicted Effect

probably benign
Transcript: ENSMUST00000056617
AA Change: K465E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: K465E

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
AA Change: K433E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: K433E

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: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	G	A	12: 70,942,258		probably null	Het
Aktip	A	T	8: 91,126,774	V105E	probably benign	Het
Ankrd7	A	G	6: 18,870,007	Y253C	probably damaging	Het
Bag6	T	C	17: 35,142,065	M440T	unknown	Het
Camk2b	T	A	11: 5,972,838	N426Y	probably damaging	Het
Ccdc82	T	A	9: 13,289,352	Y500*	probably null	Het
Cenpe	T	A	3: 135,225,016	D341E	probably damaging	Het
Cyp2j13	A	T	4: 96,068,191	M227K	probably benign	Het
Dmbt1	G	A	7: 131,090,404	V967I	unknown	Het
Dnmt3b	A	T	2: 153,674,013	N447Y	probably benign	Het
Dtl	A	T	1: 191,553,063	Y320*	probably null	Het
Dtymk	A	C	1: 93,801,821	S3A	probably benign	Het
Eefsec	G	A	6: 88,446,271	T70M	possibly damaging	Het
Fam171a1	C	T	2: 3,220,307	T270M	probably damaging	Het
Gm17677	A	G	9: 35,741,095	Y16C	probably damaging	Het
Gm17728	T	C	17: 9,422,327	S90P	probably benign	Het
Hdlbp	A	G	1: 93,431,331	L213P	probably damaging	Het
Heatr5b	T	C	17: 78,801,759	I1024V	probably benign	Het
Hr	C	T	14: 70,561,865	R597*	probably null	Het
Ifit3	T	C	19: 34,587,588	I178T	probably damaging	Het
Ifna6	A	G	4: 88,827,985	*190W	probably null	Het
Igkv4-55	A	T	6: 69,607,331	M99K	probably benign	Het
Klk1	T	A	7: 44,227,632	I53N	probably damaging	Het
Lpcat2b	A	G	5: 107,432,826	H7R	probably benign	Het
Lrrc37a	G	A	11: 103,502,655	P648L		Het
Mast4	G	T	13: 102,758,666	P975H	probably damaging	Het
Mfrp	C	T	9: 44,102,510	L106F	probably benign	Het
Mllt10	T	A	2: 18,196,658	S652T	probably benign	Het
Mroh8	C	A	2: 157,241,753	G400W	probably damaging	Het
Neurl4	A	G	11: 69,903,962		probably benign	Het
Nop14	A	C	5: 34,660,008	V13G	probably benign	Het
Nup188	T	A	2: 30,327,564	L837Q	probably damaging	Het
Olfr1089	T	C	2: 86,732,958	Y218C	probably damaging	Het
Olfr318	T	A	11: 58,720,746	T101S	probably benign	Het
Olfr441	T	A	6: 43,115,971	N76K	possibly damaging	Het
Olfr849	T	C	9: 19,441,521	S203P	probably damaging	Het
Pde8b	A	T	13: 95,090,285	V185E	probably benign	Het
Pink1	G	T	4: 138,320,022	A247D	probably damaging	Het
Pla2g10	A	T	16: 13,728,050	V40D	probably damaging	Het
Plce1	G	A	19: 38,524,367	G37R	probably benign	Het
Pld1	A	G	3: 28,112,290	E826G	possibly damaging	Het
Poc5	G	T	13: 96,398,720	K164N	possibly damaging	Het
Polr2b	A	T	5: 77,315,914	M53L	probably benign	Het
Ppp1r10	C	T	17: 35,928,798	P470S	probably damaging	Het
Rasef	A	G	4: 73,727,603	S510P	probably damaging	Het
Rnf17	T	A	14: 56,485,201	L1073Q	probably damaging	Het
Rpl13a-ps1	C	T	19: 50,030,300	G146R	probably damaging	Het
Scn2a	A	G	2: 65,688,386	D368G	probably damaging	Het
Shc3	T	A	13: 51,480,212	S86C	probably benign	Het
Sos1	T	C	17: 80,433,976	H460R	probably damaging	Het
Steap1	T	A	5: 5,740,838	M37L	probably benign	Het
Themis	G	T	10: 28,797,496	C593F	possibly damaging	Het
Tnn	A	G	1: 160,110,244		probably null	Het
Trabd	G	T	15: 89,085,464		probably benign	Het
Trim42	T	A	9: 97,365,994	K216N	probably damaging	Het
Trmt44	G	A	5: 35,564,329	P497S	probably benign	Het
Trp53bp2	A	G	1: 182,428,910	Y15C	probably damaging	Het
Trpm7	T	A	2: 126,810,180	I1458L	probably benign	Het
Ttc17	G	T	2: 94,406,658	A3E	possibly damaging	Het
Ttn	C	A	2: 76,873,864	V9274L	unknown	Het
Vmn2r105	T	A	17: 20,208,610	I735F	probably damaging	Het
Vmn2r22	A	G	6: 123,637,495	C379R	probably damaging	Het
Vmn2r97	G	A	17: 18,929,345	E332K	probably benign	Het
Xrn1	A	G	9: 96,038,679	T1331A	probably benign	Het
Zcchc6	T	A	13: 59,789,197	Q1212L	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
R8780:Adgrd1	UTSW	5	129097074	start gained	probably benign
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'- CCATGCTGTTGTAAATGTCATGG -3'
(R):5'- TCTCCAAAGGACTCGAAGCC -3'

Sequencing Primer
(F):5'- AAATGTCATGGTCTTGTGGCTC -3'
(R):5'- CCAACCTGGCTTGAACAAGG -3'

Posted On

2021-07-15