Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02142:Adgrd1'

281593

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02142

Quality Score

Status

Chromosome

Chromosomal Location

129096750-129204599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129131584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 251 (H251Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121217 (fasta)

Gene Model

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

AlphaFold

Q80T32

Predicted Effect

probably benign
Transcript: ENSMUST00000056617
AA Change: H283Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: H283Q

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

noncoding transcript
Transcript: ENSMUST00000140155

Predicted Effect

probably benign
Transcript: ENSMUST00000156437
AA Change: H251Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: H251Q

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

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	G	A	19: 11,110,331	Q79*	probably null	Het
Abca4	T	C	3: 122,169,926	S2060P	probably benign	Het
Abcg4	A	G	9: 44,277,717	F426S	probably benign	Het
Actn1	C	T	12: 80,176,155		probably null	Het
Adgrg3	C	T	8: 95,039,855	P385S	probably damaging	Het
Ampd2	G	T	3: 108,080,344		probably benign	Het
Arhgap42	A	G	9: 9,155,359	S86P	probably damaging	Het
Armc4	C	A	18: 7,214,601	W733C	probably damaging	Het
Art5	C	T	7: 102,097,916	E121K	probably null	Het
Atad5	G	A	11: 80,094,197	E37K	probably benign	Het
Atp13a5	A	G	16: 29,234,563	V1084A	probably benign	Het
Cfap44	T	C	16: 44,421,144	I626T	probably benign	Het
Col16a1	T	A	4: 130,051,647		probably null	Het
Defa22	T	G	8: 21,163,114	C81G	possibly damaging	Het
Dnm2	A	G	9: 21,500,353	Y622C	probably damaging	Het
Efna5	T	A	17: 62,607,345	L201F	unknown	Het
Elac1	T	C	18: 73,738,920	R335G	probably benign	Het
Enpp5	T	C	17: 44,085,577	V460A	probably benign	Het
Esr2	A	G	12: 76,123,195	V453A	probably benign	Het
Fam210b	T	A	2: 172,352,577		probably benign	Het
Fcgr1	T	C	3: 96,284,577	Y305C	probably benign	Het
Fcrlb	A	G	1: 170,908,679	V176A	probably damaging	Het
Gabrq	T	A	X: 72,836,177	V256E	possibly damaging	Het
Gba	T	C	3: 89,205,841	L193P	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Helq	A	G	5: 100,783,094	F597L	probably benign	Het
Hrh1	A	T	6: 114,480,243	I162L	probably damaging	Het
Jph1	A	T	1: 17,091,660	F259L	probably damaging	Het
Kdm2b	C	T	5: 122,947,835	E238K	probably damaging	Het
Kdm4c	T	A	4: 74,307,016		probably null	Het
Kif13a	T	C	13: 46,771,535	T308A	probably benign	Het
Lars	C	T	18: 42,227,280	V704M	probably benign	Het
Lcmt2	A	G	2: 121,138,913	L343P	possibly damaging	Het
Lhfpl1	A	G	X: 145,340,737	F125L	probably benign	Het
Lmbrd2	C	A	15: 9,186,685	D582E	probably damaging	Het
Lrrn2	T	A	1: 132,939,245	S683T	possibly damaging	Het
Macf1	T	C	4: 123,472,049	D1408G	probably benign	Het
Magi3	T	C	3: 104,015,903	K1166R	probably benign	Het
March5	T	C	19: 37,220,493		probably benign	Het
Naa25	A	G	5: 121,426,762	Q555R	possibly damaging	Het
Npat	A	G	9: 53,569,907	T1005A	probably benign	Het
Nt5c3	G	A	6: 56,886,685	A108V	probably damaging	Het
Ocrl	T	A	X: 47,936,118	M322K	probably damaging	Het
Olfr229	A	G	9: 39,910,639	T279A	possibly damaging	Het
Psg23	A	T	7: 18,610,420	V370E	probably benign	Het
Rassf2	A	T	2: 131,996,433	M311K	possibly damaging	Het
Rhobtb3	A	G	13: 75,877,495	Y501H	probably damaging	Het
Rpl4	A	G	9: 64,176,206	D179G	possibly damaging	Het
Scn2a	T	A	2: 65,715,838	I915N	probably damaging	Het
Scn3a	T	A	2: 65,526,621	T160S	possibly damaging	Het
Slx4ip	T	G	2: 137,068,022	N242K	possibly damaging	Het
Spidr	T	A	16: 16,048,081	Q288L	probably benign	Het
Sun1	A	T	5: 139,231,163	H255L	possibly damaging	Het
Tacc1	C	T	8: 25,175,217	G51S	probably damaging	Het
Tet2	T	A	3: 133,480,139	N1179I	possibly damaging	Het
Tgfbrap1	T	C	1: 43,062,592	Y349C	probably damaging	Het
Tnrc6a	T	C	7: 123,152,191		probably benign	Het
Trim32	T	C	4: 65,614,499	L431P	probably damaging	Het
Vmn1r35	A	G	6: 66,679,350	L112S	probably damaging	Het
Vmn2r100	A	C	17: 19,522,321	H319P	probably damaging	Het
Wdr20rt	A	G	12: 65,227,265	T328A	probably benign	Het
Zbtb17	T	C	4: 141,464,982	Y413H	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
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
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

Posted On

2015-04-16