Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4458001:Adgrd1'

555906

Institutional Source

Beutler Lab

Gene Symbol

Adgrd1

Ensembl Gene

ENSMUSG00000044017

Gene Name

adhesion G protein-coupled receptor D1

Synonyms

E230012M21Rik, Gpr133

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4458001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129096750-129204599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129131577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 281 (G281D)

Ref Sequence

ENSEMBL: ENSMUSP00000060307 (fasta)

Gene Model

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

AlphaFold

Q80T32

Predicted Effect

probably damaging
Transcript: ENSMUST00000056617
AA Change: G281D

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

SMART Domains

Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: G281D

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 damaging
Transcript: ENSMUST00000156437
AA Change: G249D

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

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: G249D

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

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.3%
20x: 73.0%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,298,304	V2684L	probably benign	Het
Adamts9	T	A	6: 92,889,905	I718F	probably damaging	Het
Adcyap1r1	A	G	6: 55,478,082	D110G	probably benign	Het
Afg1l	A	T	10: 42,454,370	C100*	probably null	Het
Atp2a2	G	A	5: 122,457,309	Q993*	probably null	Het
Baz1a	A	G	12: 54,930,310	M389T	probably benign	Het
Btnl4	T	A	17: 34,474,268	M58L	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cpeb1	A	T	7: 81,348,432	F533Y	probably damaging	Het
Ctnna1	T	A	18: 35,175,126	N166K	possibly damaging	Het
Ecsit	T	C	9: 22,076,284	H153R	probably damaging	Het
Gbp8	T	C	5: 105,015,089	K480E	probably benign	Het
Glyat	A	T	19: 12,648,009	T66S	probably benign	Het
Gm1110	T	C	9: 26,880,828	Q632R	probably benign	Het
Gm12185	C	T	11: 48,907,911	R585Q	probably damaging	Het
Gm17669	TAA	TAAA	18: 67,562,749		probably null	Het
Gm7489	A	C	15: 53,885,799	E89A	unknown	Het
Grb7	C	T	11: 98,453,829	Q353*	probably null	Het
Ifi207	G	A	1: 173,735,172	T136I	unknown	Het
Ighv3-1	T	C	12: 113,964,604	Y45C	probably benign	Het
Ing5	A	G	1: 93,811,946	M92V	possibly damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,572,301		probably benign	Het
Kdm6b	A	T	11: 69,399,952	D1630E	unknown	Het
Lmo7	C	T	14: 101,887,487	Q583*	probably null	Het
Lrrc37a	T	C	11: 103,504,512	D29G	probably benign	Het
Mpdz	G	T	4: 81,419,026	A10D	probably damaging	Het
Myh4	A	G	11: 67,240,995	M94V	possibly damaging	Het
Nectin2	A	C	7: 19,738,327	L46V	probably benign	Het
Nynrin	A	T	14: 55,863,968	T365S	probably benign	Het
Olfr1225	A	T	2: 89,170,633	I193K	probably benign	Het
Pde4b	A	C	4: 102,602,678	E570A	probably damaging	Het
Phf3	T	C	1: 30,816,541	H988R	probably damaging	Het
Ppfia2	A	G	10: 106,927,847	K1234E	probably benign	Het
Prl7c1	A	T	13: 27,773,758	M233K	probably benign	Het
Prp2	C	T	6: 132,600,547	P266S	unknown	Het
Ralgds	T	C	2: 28,542,474	L160P	probably damaging	Het
Rasa1	A	T	13: 85,227,118	M664K	possibly damaging	Het
Ryr2	T	C	13: 11,555,448	T4930A	probably benign	Het
Senp8	T	C	9: 59,737,480	Y131C	probably damaging	Het
Sp100	A	G	1: 85,708,116	I547M	probably benign	Het
Spata20	A	G	11: 94,484,608	M120T	probably damaging	Het
Spata31	A	G	13: 64,921,850	H604R	probably benign	Het
Sycp1	A	T	3: 102,934,833	S53T	probably benign	Het
Tgm1	T	C	14: 55,712,565	D62G	unknown	Het
Trpm1	G	C	7: 64,268,561	E1434Q	possibly damaging	Het
Tshb	A	T	3: 102,778,164	Y50N	probably damaging	Het
Wdr17	A	T	8: 54,673,579	Y413*	probably null	Het
Zdhhc16	G	A	19: 41,937,770	G55R	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
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
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'- GGCTTGCATGAACGGTGTTC -3'
(R):5'- AGGGATGCTTTAATCCTCAGACTC -3'

Sequencing Primer
(F):5'- GAACGGTGTTCAGAAGCAATTTAC -3'
(R):5'- TAATGCATGGAGTAAGAGCCCTTCC -3'

Posted On

2019-06-07