Mutagenetix > Incidental Mutation

Incidental Mutation 'R7583:Adgrd1'

586869

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 #

R7583 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129096750-129204599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129179588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 674 (T674P)

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: T674P

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: T674P

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: T642P

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: T642P

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

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,739,326	D462V	probably damaging	Het
Abcc1	T	C	16: 14,404,038	W222R	probably damaging	Het
Adamts13	A	G	2: 26,973,953	K48E	probably benign	Het
Agbl4	A	T	4: 111,118,953	Y169F	possibly damaging	Het
Ahnak	T	A	19: 9,006,093	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,835,914		probably null	Het
Ap3d1	G	A	10: 80,709,458	T1053I	probably benign	Het
Atad2	T	C	15: 58,126,664	T139A	probably benign	Het
Bdp1	T	A	13: 100,049,812	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,833,790	I141V	probably damaging	Het
Cavin2	A	T	1: 51,289,618	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,779,754	H406R	probably benign	Het
Cd200r4	A	G	16: 44,833,421	T194A	probably damaging	Het
Cdt1	G	A	8: 122,570,256	R263H	probably damaging	Het
Cep85l	A	T	10: 53,281,354	I751N	probably damaging	Het
Clasp2	A	G	9: 113,908,687	D1043G	probably benign	Het
Cmip	A	T	8: 117,454,952	N578I	probably damaging	Het
Col2a1	T	G	15: 97,976,184	K1440N	unknown	Het
Cpne2	A	T	8: 94,555,581	M252L	probably benign	Het
Crb2	A	G	2: 37,790,595	T512A	probably benign	Het
Csmd1	A	G	8: 15,998,833	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,612,061	D642E	probably damaging	Het
Ctns	A	G	11: 73,188,470	S141P	probably benign	Het
Cwh43	A	G	5: 73,434,289	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,759,064	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,333,310	S849P	probably damaging	Het
Dnm3	T	A	1: 162,477,774	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,836,092	M1K	probably null	Het
Fam124a	T	A	14: 62,606,559	C505*	probably null	Het
Fam160b1	T	A	19: 57,378,602	D192E	probably benign	Het
Fsip2	A	G	2: 82,975,241	I635V	probably benign	Het
Gm5878	A	T	6: 85,118,700		probably null	Het
Gm6205	A	T	5: 94,682,894	T84S	possibly damaging	Het
Gpld1	C	A	13: 24,975,760	A437D	probably damaging	Het
Grk5	G	T	19: 61,083,204	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,235,615	L259Q	probably damaging	Het
Habp2	T	A	19: 56,311,804	D191E	probably benign	Het
Helz2	T	A	2: 181,237,572	H751L	probably benign	Het
Hgsnat	A	G	8: 25,971,564		probably null	Het
Hivep1	T	A	13: 42,164,240	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,276,479	A26T	probably damaging	Het
Ivd	C	A	2: 118,862,131	D37E	probably damaging	Het
Kif26b	G	A	1: 178,530,445	W40*	probably null	Het
Klrc2	A	G	6: 129,659,311	S114P	probably damaging	Het
Lama1	A	T	17: 67,761,621	T772S		Het
Lamc1	T	A	1: 153,243,232	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,655,449	D12N		Het
Lpin2	G	T	17: 71,231,396	E384*	probably null	Het
Lrrc23	T	C	6: 124,779,578		probably benign	Het
Lrrc31	T	C	3: 30,691,099		probably null	Het
Luc7l2	A	G	6: 38,551,885	Q13R	probably damaging	Het
Ly6c1	G	T	15: 75,048,497	H5Q	probably damaging	Het
Lyst	A	T	13: 13,635,887	H714L	probably damaging	Het
Man2a2	C	T	7: 80,366,944	R374H	probably damaging	Het
Mchr1	A	T	15: 81,237,441	T131S	probably benign	Het
Msto1	T	C	3: 88,912,929		probably null	Het
Myh1	C	T	11: 67,220,913	T1698I	probably benign	Het
Ncapd3	G	T	9: 27,071,848	C964F	probably damaging	Het
Nefh	T	C	11: 4,941,089	E510G	probably damaging	Het
Olfr1246	A	T	2: 89,590,751	Y121*	probably null	Het
Olfr1513	T	C	14: 52,349,903	T48A	possibly damaging	Het
Olfr357	A	C	2: 36,997,080	K90T	probably damaging	Het
Olfr362	A	T	2: 37,105,527	L41*	probably null	Het
Olfr538	A	G	7: 140,574,210	E19G	probably benign	Het
P4ha1	T	A	10: 59,369,640	S497R	probably benign	Het
Palb2	T	C	7: 122,127,342	D435G	probably benign	Het
Papola	C	T	12: 105,811,045	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,324	R623G	probably damaging	Het
Pcolce	T	G	5: 137,607,445	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,568,364		probably null	Het
Ppp6r3	T	A	19: 3,490,790	T443S	probably benign	Het
Psg20	T	A	7: 18,682,483	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,308,405	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,902,114	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,930,875	S574P	probably benign	Het
Slc36a1	A	G	11: 55,213,928		probably null	Het
Slc9a5	A	G	8: 105,363,272	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,445,025		probably null	Het
Snx17	A	G	5: 31,196,533	N222D	possibly damaging	Het
Spata19	G	T	9: 27,400,433	S116I	possibly damaging	Het
Spn	G	A	7: 127,137,062	A91V	probably damaging	Het
Srrm3	T	C	5: 135,852,281	V145A	probably benign	Het
St7	A	T	6: 17,942,754	T575S	possibly damaging	Het
Taf2	A	T	15: 55,064,676	Y110*	probably null	Het
Tcf20	T	C	15: 82,855,276	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,624,238	A1973E	probably benign	Het
Tg	T	G	15: 66,764,418	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,696,739	Y1882*	probably null	Het
Trim45	T	A	3: 100,925,023	C191S	probably damaging	Het
Upf3a	G	A	8: 13,785,889		probably null	Het
Vmn2r42	A	T	7: 8,194,741	L293*	probably null	Het
Vmn2r62	T	A	7: 42,788,042	Q339H	possibly damaging	Het
Wdr24	A	T	17: 25,825,830	R220W	probably null	Het
Wdr5	T	A	2: 27,518,775	S22T	probably benign	Het
Zfp37	G	A	4: 62,192,016		probably benign	Het
Zfp735	A	T	11: 73,711,107	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,583,489	C271*	probably null	Het
Zranb1	G	A	7: 132,983,896	R691Q	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
R7300:Adgrd1	UTSW	5	129097347	critical splice donor site	probably null
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'- CCTGAGAAACTGAGCCTTGC -3'
(R):5'- AGAACCCATTCCATTCCATCTG -3'

Sequencing Primer
(F):5'- TTGCCTCCCCAGGAATAAAATGAGG -3'
(R):5'- ATATTAATAGGTCCCACCCCTGC -3'

Posted On

2019-10-24