Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Adgrd1'

190313

Institutional Source

Beutler Lab

Gene Symbol

Adgrd1

Ensembl Gene

ENSMUSG00000044017

Gene Name

adhesion G protein-coupled receptor D1

Synonyms

Gpr133, E230012M21Rik

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1709 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

129173814-129281663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129256292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 641 (V641A)

Ref Sequence

ENSEMBL: ENSMUSP00000060307 (fasta)

Gene Model

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

AlphaFold

Q80T32

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056617
AA Change: V641A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060307
Gene: ENSMUSG00000044017
AA Change: V641A

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

possibly damaging
Transcript: ENSMUST00000156437
AA Change: V609A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121217
Gene: ENSMUSG00000044017
AA Change: V609A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,566,942 (GRCm39)	K152E	probably benign	Het
Adgrv1	A	T	13: 81,741,179 (GRCm39)	V95E	probably damaging	Het
Agbl5	G	A	5: 31,063,585 (GRCm39)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,693,316 (GRCm39)	T201K	probably damaging	Het
Aox1	C	T	1: 58,116,633 (GRCm39)	A788V	probably benign	Het
Apob	T	C	12: 8,059,306 (GRCm39)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,049,065 (GRCm39)	T179I	probably damaging	Het
Atf5	A	T	7: 44,462,707 (GRCm39)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,134,659 (GRCm39)	T1205A	probably benign	Het
Atr	C	T	9: 95,753,129 (GRCm39)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,241,453 (GRCm39)	E25G	possibly damaging	Het
Brap	T	C	5: 121,803,353 (GRCm39)		probably null	Het
C6	G	T	15: 4,820,452 (GRCm39)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm39)	F180S	probably damaging	Het
Cd207	T	C	6: 83,649,818 (GRCm39)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 179,894,789 (GRCm39)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,428,901 (GRCm39)	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,948,581 (GRCm39)	Q297L	probably benign	Het
Coro7	A	T	16: 4,452,305 (GRCm39)		probably null	Het
Cpsf2	T	A	12: 101,965,801 (GRCm39)	Y589N	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Crocc	A	G	4: 140,753,410 (GRCm39)		probably null	Het
Cryzl1	A	C	16: 91,509,124 (GRCm39)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,389,988 (GRCm39)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,949,275 (GRCm39)	H147N	unknown	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,837,155 (GRCm39)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,501,431 (GRCm39)	M594L	probably benign	Het
Dspp	C	A	5: 104,323,590 (GRCm39)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,656,290 (GRCm39)		probably null	Het
Elapor2	C	T	5: 9,490,726 (GRCm39)	R579*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,585,693 (GRCm39)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,883,659 (GRCm39)	I530N	probably damaging	Het
Gp2	C	A	7: 119,050,808 (GRCm39)	D308Y	probably null	Het
Gpd2	G	A	2: 57,247,667 (GRCm39)	V537M	probably damaging	Het
Gpr18	T	A	14: 122,149,404 (GRCm39)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,733,620 (GRCm39)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,444,397 (GRCm39)	F59V	probably damaging	Het
H3c1	T	A	13: 23,945,964 (GRCm39)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,883,311 (GRCm39)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,684,226 (GRCm39)	D855E	probably benign	Het
Klrk1	A	T	6: 129,591,682 (GRCm39)		probably null	Het
Megf11	A	G	9: 64,602,694 (GRCm39)	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,812,495 (GRCm39)	Q12K	probably benign	Het
Mrgprf	T	C	7: 144,861,954 (GRCm39)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,461,852 (GRCm39)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,225,260 (GRCm39)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,092,099 (GRCm39)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,344,615 (GRCm39)	I433V	probably damaging	Het
Nup153	A	G	13: 46,847,450 (GRCm39)	C660R	probably damaging	Het
Or1o11	T	A	17: 37,757,091 (GRCm39)	Y226*	probably null	Het
Or2a25	T	C	6: 42,889,078 (GRCm39)	V207A	possibly damaging	Het
Or4z4	G	T	19: 12,076,245 (GRCm39)	P253T	probably damaging	Het
Or5h26	T	A	16: 58,988,264 (GRCm39)	M81L	probably benign	Het
P2rx7	T	A	5: 122,808,528 (GRCm39)	N303K	possibly damaging	Het
Pank4	T	C	4: 155,054,504 (GRCm39)	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,651,553 (GRCm39)	H7L	probably benign	Het
Pdzd8	A	T	19: 59,289,771 (GRCm39)	I543N	probably benign	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prrc2b	C	A	2: 32,084,473 (GRCm39)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm39)	C600R	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rfx6	T	A	10: 51,554,498 (GRCm39)	M113K	possibly damaging	Het
Rlf	A	T	4: 121,007,020 (GRCm39)	D653E	probably benign	Het
Rnf130	A	G	11: 49,978,213 (GRCm39)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,753,411 (GRCm39)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,533 (GRCm39)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,313,850 (GRCm39)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,378,925 (GRCm39)	D913E	probably benign	Het
Sfr1	G	T	19: 47,723,442 (GRCm39)	E315D	possibly damaging	Het
Smarca5	G	A	8: 81,435,849 (GRCm39)	R763*	probably null	Het
Sugct	A	C	13: 17,847,151 (GRCm39)	I44S	probably damaging	Het
Syce1l	A	G	8: 114,380,662 (GRCm39)		probably null	Het
Tbc1d8b	A	G	X: 138,634,829 (GRCm39)	I654V	probably benign	Het
Tcf23	T	A	5: 31,130,852 (GRCm39)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,738,238 (GRCm39)		probably null	Het
Tmem158	T	C	9: 123,088,950 (GRCm39)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,205 (GRCm39)	T332A	probably benign	Het
Trappc4	T	C	9: 44,318,508 (GRCm39)	T31A	probably benign	Het
Trim27	T	C	13: 21,372,235 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,301 (GRCm39)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,689,532 (GRCm39)	L578*	probably null	Het
Txndc11	C	A	16: 10,946,565 (GRCm39)	E83*	probably null	Het
Utp20	T	C	10: 88,585,159 (GRCm39)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,180,304 (GRCm39)	T169I	probably damaging	Het
Vcl	G	A	14: 21,069,441 (GRCm39)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,499,373 (GRCm39)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,030,223 (GRCm39)	M683T	probably benign	Het
Xirp2	A	G	2: 67,340,215 (GRCm39)	I819V	probably benign	Het
Zfp735	T	C	11: 73,602,589 (GRCm39)	F511S	probably benign	Het
Zfp831	T	C	2: 174,487,683 (GRCm39)	V786A	probably benign	Het
Zfp992	T	A	4: 146,550,949 (GRCm39)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,041,300 (GRCm39)	Q72P	probably damaging	Het

Other mutations in Adgrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Adgrd1	APN	5	129,216,656 (GRCm39)	missense	probably benign	0.06
IGL01384:Adgrd1	APN	5	129,174,273 (GRCm39)	missense	possibly damaging	0.47
IGL01636:Adgrd1	APN	5	129,219,516 (GRCm39)	splice site	probably benign
IGL01916:Adgrd1	APN	5	129,209,902 (GRCm39)	missense	probably benign	0.12
IGL01923:Adgrd1	APN	5	129,255,143 (GRCm39)	missense	possibly damaging	0.58
IGL02019:Adgrd1	APN	5	129,192,202 (GRCm39)	missense	probably benign	0.00
IGL02142:Adgrd1	APN	5	129,208,648 (GRCm39)	missense	probably benign
IGL02149:Adgrd1	APN	5	129,256,325 (GRCm39)	missense	probably damaging	1.00
IGL02190:Adgrd1	APN	5	129,217,788 (GRCm39)	splice site	probably benign
IGL02623:Adgrd1	APN	5	129,209,809 (GRCm39)	missense	probably damaging	0.99
IGL02696:Adgrd1	APN	5	129,217,918 (GRCm39)	splice site	probably benign
IGL02850:Adgrd1	APN	5	129,192,119 (GRCm39)	missense	probably damaging	1.00
IGL02976:Adgrd1	APN	5	129,208,661 (GRCm39)	missense	probably benign	0.00
IGL02988:Adgrd1	UTSW	5	129,221,074 (GRCm39)	missense	probably benign	0.00
PIT4458001:Adgrd1	UTSW	5	129,208,641 (GRCm39)	missense	probably damaging	1.00
R0081:Adgrd1	UTSW	5	129,255,146 (GRCm39)	missense	probably damaging	0.99
R0266:Adgrd1	UTSW	5	129,216,658 (GRCm39)	missense	probably benign	0.00
R0267:Adgrd1	UTSW	5	129,216,658 (GRCm39)	missense	probably benign	0.00
R0464:Adgrd1	UTSW	5	129,239,714 (GRCm39)	missense	probably damaging	1.00
R0625:Adgrd1	UTSW	5	129,248,995 (GRCm39)	critical splice donor site	probably null
R1288:Adgrd1	UTSW	5	129,206,071 (GRCm39)	missense	probably damaging	0.97
R1460:Adgrd1	UTSW	5	129,199,627 (GRCm39)	missense	possibly damaging	0.63
R1635:Adgrd1	UTSW	5	129,205,971 (GRCm39)	missense	probably damaging	1.00
R1658:Adgrd1	UTSW	5	129,255,164 (GRCm39)	missense	probably benign	0.02
R1897:Adgrd1	UTSW	5	129,206,065 (GRCm39)	missense	probably benign	0.01
R1976:Adgrd1	UTSW	5	129,217,861 (GRCm39)	missense	probably benign	0.06
R2049:Adgrd1	UTSW	5	129,192,159 (GRCm39)	missense	probably benign	0.01
R2259:Adgrd1	UTSW	5	129,189,375 (GRCm39)	missense	possibly damaging	0.92
R2295:Adgrd1	UTSW	5	129,199,570 (GRCm39)	missense	probably benign	0.13
R3076:Adgrd1	UTSW	5	129,206,169 (GRCm39)	missense	probably benign	0.20
R3077:Adgrd1	UTSW	5	129,206,169 (GRCm39)	missense	probably benign	0.20
R3078:Adgrd1	UTSW	5	129,206,169 (GRCm39)	missense	probably benign	0.20
R4581:Adgrd1	UTSW	5	129,279,595 (GRCm39)	missense	possibly damaging	0.68
R5024:Adgrd1	UTSW	5	129,248,959 (GRCm39)	missense	probably damaging	1.00
R5076:Adgrd1	UTSW	5	129,221,053 (GRCm39)	nonsense	probably null
R5227:Adgrd1	UTSW	5	129,199,647 (GRCm39)	missense	probably benign	0.00
R5453:Adgrd1	UTSW	5	129,256,647 (GRCm39)	missense	probably damaging	0.99
R6349:Adgrd1	UTSW	5	129,219,603 (GRCm39)	splice site	probably null
R6953:Adgrd1	UTSW	5	129,192,142 (GRCm39)	nonsense	probably null
R7300:Adgrd1	UTSW	5	129,174,411 (GRCm39)	critical splice donor site	probably null
R7583:Adgrd1	UTSW	5	129,256,652 (GRCm39)	missense	probably benign	0.42
R7622:Adgrd1	UTSW	5	129,216,688 (GRCm39)	missense	probably benign	0.27
R8205:Adgrd1	UTSW	5	129,192,175 (GRCm39)	missense	possibly damaging	0.94
R8716:Adgrd1	UTSW	5	129,265,435 (GRCm39)	missense	possibly damaging	0.94
R8780:Adgrd1	UTSW	5	129,174,138 (GRCm39)	start gained	probably benign
R8850:Adgrd1	UTSW	5	129,219,574 (GRCm39)	missense	probably benign	0.00
R9528:Adgrd1	UTSW	5	129,256,740 (GRCm39)	missense	probably benign	0.44
R9569:Adgrd1	UTSW	5	129,256,701 (GRCm39)	missense	possibly damaging	0.90
R9626:Adgrd1	UTSW	5	129,275,721 (GRCm39)	missense	probably damaging	1.00
X0067:Adgrd1	UTSW	5	129,265,416 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTTAGAGGAGCCACTGAACTTCCG -3'
(R):5'- TAATGTAGGAGGACAGCCAGCACC -3'

Sequencing Primer
(F):5'- TGCAGAGTGGCTGGAACTATG -3'
(R):5'- AGGCAAGGCTCAGTTTCTCAG -3'

Posted On

2014-05-14