Mutagenetix > Incidental Mutation

Incidental Mutation 'R1952:Adgrg1'

217383

Institutional Source

Beutler Lab

Gene Symbol

Adgrg1

Ensembl Gene

ENSMUSG00000031785

Gene Name

adhesion G protein-coupled receptor G1

Synonyms

Cyt28, Gpr56

MMRRC Submission

039966-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R1952 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95701379-95740845 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 95735119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093271] [ENSMUST00000179619] [ENSMUST00000211984] [ENSMUST00000212118] [ENSMUST00000212660] [ENSMUST00000212141] [ENSMUST00000212799] [ENSMUST00000212976] [ENSMUST00000212531] [ENSMUST00000212581] [ENSMUST00000212956]

AlphaFold

Q8K209

Predicted Effect

probably null
Transcript: ENSMUST00000093271

SMART Domains

Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
GPS	342	394	1.42e-12	SMART
Pfam:7tm_2	400	648	8.1e-32	PFAM
low complexity region	678	685	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000179619

SMART Domains

Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
GPS	342	394	1.42e-12	SMART
Pfam:7tm_2	400	648	3.4e-31	PFAM
low complexity region	678	685	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211911

Predicted Effect

probably benign
Transcript: ENSMUST00000211984

Predicted Effect

probably benign
Transcript: ENSMUST00000212118

Predicted Effect

probably benign
Transcript: ENSMUST00000212660

Predicted Effect

probably benign
Transcript: ENSMUST00000212141

Predicted Effect

probably benign
Transcript: ENSMUST00000212799

Predicted Effect

probably benign
Transcript: ENSMUST00000212976

Predicted Effect

probably benign
Transcript: ENSMUST00000212531

Predicted Effect

probably benign
Transcript: ENSMUST00000212581

Predicted Effect

probably benign
Transcript: ENSMUST00000212956

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit neuronal ectopias in the frontoparietal cortex due to disruptions in the pial basement membrane. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,110,293 (GRCm39)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,689,778 (GRCm39)	H376Q	probably damaging	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,338,566 (GRCm39)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,409,329 (GRCm39)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,654,789 (GRCm39)	T804A	probably damaging	Het
Capn11	A	T	17: 45,953,885 (GRCm39)	W154R	probably damaging	Het
Cd44	T	A	2: 102,683,432 (GRCm39)	T201S	probably damaging	Het
Cers4	G	A	8: 4,573,461 (GRCm39)	W319*	probably null	Het
Col27a1	T	A	4: 63,202,130 (GRCm39)		probably null	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,248,028 (GRCm39)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm39)	N759S	probably damaging	Het
Fat1	T	C	8: 45,486,963 (GRCm39)	V3413A	probably benign	Het
Gls2	A	G	10: 128,045,231 (GRCm39)	H576R	probably benign	Het
Gm4884	G	A	7: 40,693,671 (GRCm39)	V547M	probably benign	Het
Hap1	A	G	11: 100,243,105 (GRCm39)	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,269,300 (GRCm39)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm39)	I742V	probably benign	Het
Katnal2	G	T	18: 77,067,707 (GRCm39)	S411R	probably benign	Het
Lrp1	A	C	10: 127,403,300 (GRCm39)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,056,368 (GRCm39)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm39)	E991D	possibly damaging	Het
Mip	T	C	10: 128,061,772 (GRCm39)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,568,048 (GRCm39)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Myrfl	C	T	10: 116,658,716 (GRCm39)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nin	T	A	12: 70,077,700 (GRCm39)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,523,770 (GRCm39)	V570A	probably benign	Het
Olfm3	A	T	3: 114,895,589 (GRCm39)	E157V	probably null	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8g37	T	C	9: 39,731,363 (GRCm39)	S143P	probably benign	Het
Otud7a	A	G	7: 63,300,624 (GRCm39)	D21G	probably damaging	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pcf11	A	T	7: 92,310,546 (GRCm39)	S481T	probably damaging	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,454,136 (GRCm39)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,419,884 (GRCm39)	V246A	probably damaging	Het
Ptpn12	A	T	5: 21,203,308 (GRCm39)	V490E	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Qars1	G	A	9: 108,390,380 (GRCm39)	R427H	probably benign	Het
R3hdml	T	C	2: 163,340,216 (GRCm39)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,038,471 (GRCm39)	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,164,277 (GRCm39)	R234*	probably null	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Satb1	A	T	17: 52,047,173 (GRCm39)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,938,229 (GRCm39)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,930,519 (GRCm39)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm39)		probably null	Het
She	A	G	3: 89,756,792 (GRCm39)	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482 (GRCm39)	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm39)	H475L	probably benign	Het
Sorl1	C	T	9: 41,957,920 (GRCm39)	V575I	probably benign	Het
Spag9	T	A	11: 93,988,184 (GRCm39)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,654,052 (GRCm39)	N232K	probably damaging	Het
Syncrip	A	T	9: 88,358,927 (GRCm39)	M194K	probably damaging	Het
Sytl3	A	C	17: 6,995,732 (GRCm39)	T171P	probably damaging	Het
Taar7f	T	A	10: 23,925,747 (GRCm39)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,122,381 (GRCm39)	Y67H	probably benign	Het
Tap1	C	G	17: 34,412,481 (GRCm39)	P506R	probably damaging	Het
Tle6	T	C	10: 81,431,319 (GRCm39)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,332,155 (GRCm39)	E116*	probably null	Het
Ttll4	A	G	1: 74,726,718 (GRCm39)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,887,947 (GRCm39)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,272,309 (GRCm39)	R88G	probably damaging	Het
Washc2	T	C	6: 116,232,052 (GRCm39)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,507,647 (GRCm39)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,893,437 (GRCm39)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,745,739 (GRCm39)	A32V	probably benign	Het
Zfp608	T	A	18: 55,030,851 (GRCm39)	K1030*	probably null	Het
Zfp618	T	A	4: 63,050,555 (GRCm39)		probably null	Het

Other mutations in Adgrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Adgrg1	APN	8	95,731,871 (GRCm39)	missense	probably damaging	1.00
IGL01138:Adgrg1	APN	8	95,730,085 (GRCm39)	missense	probably damaging	1.00
IGL01806:Adgrg1	APN	8	95,739,559 (GRCm39)	missense	probably damaging	1.00
IGL02229:Adgrg1	APN	8	95,730,139 (GRCm39)	missense	probably damaging	1.00
IGL03109:Adgrg1	APN	8	95,734,304 (GRCm39)	unclassified	probably benign
D4043:Adgrg1	UTSW	8	95,731,857 (GRCm39)	splice site	probably null
R0383:Adgrg1	UTSW	8	95,738,370 (GRCm39)	missense	probably damaging	1.00
R1155:Adgrg1	UTSW	8	95,733,468 (GRCm39)	missense	possibly damaging	0.92
R1656:Adgrg1	UTSW	8	95,738,438 (GRCm39)	nonsense	probably null
R1944:Adgrg1	UTSW	8	95,733,928 (GRCm39)	missense	probably damaging	0.99
R2408:Adgrg1	UTSW	8	95,730,121 (GRCm39)	missense	probably null	1.00
R3776:Adgrg1	UTSW	8	95,736,283 (GRCm39)	missense	probably damaging	0.99
R3813:Adgrg1	UTSW	8	95,738,193 (GRCm39)	missense	probably benign	0.34
R4254:Adgrg1	UTSW	8	95,732,530 (GRCm39)	splice site	probably null
R4255:Adgrg1	UTSW	8	95,732,530 (GRCm39)	splice site	probably null
R4951:Adgrg1	UTSW	8	95,731,874 (GRCm39)	missense	probably damaging	1.00
R4997:Adgrg1	UTSW	8	95,736,148 (GRCm39)	missense	probably damaging	1.00
R5152:Adgrg1	UTSW	8	95,736,373 (GRCm39)	missense	probably damaging	1.00
R6122:Adgrg1	UTSW	8	95,729,129 (GRCm39)	missense	probably benign	0.45
R6897:Adgrg1	UTSW	8	95,729,126 (GRCm39)	missense	probably benign
R7446:Adgrg1	UTSW	8	95,738,412 (GRCm39)	missense	probably damaging	1.00
R7736:Adgrg1	UTSW	8	95,731,965 (GRCm39)	missense	probably benign
R7784:Adgrg1	UTSW	8	95,739,510 (GRCm39)	nonsense	probably null
R8187:Adgrg1	UTSW	8	95,732,446 (GRCm39)	missense	probably benign	0.01
R8425:Adgrg1	UTSW	8	95,735,035 (GRCm39)	missense	probably damaging	1.00
R8474:Adgrg1	UTSW	8	95,729,936 (GRCm39)	missense	probably damaging	1.00
R8674:Adgrg1	UTSW	8	95,727,526 (GRCm39)	intron	probably benign
R8683:Adgrg1	UTSW	8	95,736,276 (GRCm39)	missense	probably damaging	1.00
Z1177:Adgrg1	UTSW	8	95,734,258 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACTTACTGGCATGGGAGG -3'
(R):5'- GTGCAGATACTCAGTGCTAATGC -3'

Sequencing Primer
(F):5'- AGGAACAGATGCTAGCCCCTTG -3'
(R):5'- ACTCAGTGCTAATGCTGAATTAAC -3'

Posted On

2014-08-01