Mutagenetix > Incidental Mutation

Incidental Mutation 'R8418:Adgrf2'

653064

Institutional Source

Beutler Lab

Gene Symbol

Adgrf2

Ensembl Gene

ENSMUSG00000057899

Gene Name

adhesion G protein-coupled receptor F2

Synonyms

PGR20, Gpr111

MMRRC Submission

067897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43007021-43053070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43021477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 449 (H449R)

Ref Sequence

ENSEMBL: ENSMUSP00000109244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113614]

AlphaFold

E9Q4J9

Predicted Effect

probably benign
Transcript: ENSMUST00000113614
AA Change: H449R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109244
Gene: ENSMUSG00000057899
AA Change: H449R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
GPS	325	376	2.05e-4	SMART
Pfam:7tm_2	378	625	4.1e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele exhibit normal viability and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	C	2: 166,698,468 (GRCm39)	V646A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc62	C	T	5: 124,084,455 (GRCm39)	R279*	probably null	Het
Cimip2b	A	G	4: 43,427,204 (GRCm39)	L76P	unknown	Het
Col6a5	G	T	9: 105,755,821 (GRCm39)	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,276,315 (GRCm39)	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,260,398 (GRCm39)	N82D	possibly damaging	Het
Dcaf17	T	A	2: 70,918,717 (GRCm39)	D430E	probably damaging	Het
Dcst2	T	C	3: 89,278,901 (GRCm39)	V546A	probably benign	Het
Dennd1a	T	C	2: 37,748,403 (GRCm39)	T359A	probably benign	Het
Dgkb	C	A	12: 38,380,016 (GRCm39)	H591N	probably damaging	Het
Dnah17	G	A	11: 117,994,284 (GRCm39)	S1047F	probably benign	Het
Dock2	A	G	11: 34,609,795 (GRCm39)	I215T	probably benign	Het
Efcab12	A	G	6: 115,799,076 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,415,378 (GRCm39)	R165C		Het
Gabrr1	C	T	4: 33,162,615 (GRCm39)	R394*	probably null	Het
Garnl3	G	T	2: 32,942,158 (GRCm39)	Q153K	possibly damaging	Het
Gars1	A	G	6: 55,042,446 (GRCm39)	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,309,466 (GRCm39)	E192D	probably benign	Het
Gm28360	A	T	1: 117,781,357 (GRCm39)	H116L	probably benign	Het
Gm9602	T	A	14: 15,935,348 (GRCm39)		probably benign	Het
Gp1bb	T	A	16: 18,440,103 (GRCm39)	H5L	unknown	Het
Grik3	A	G	4: 125,579,835 (GRCm39)	K527E	possibly damaging	Het
Hhip	T	C	8: 80,771,714 (GRCm39)	M199V	probably damaging	Het
Irgm1	A	G	11: 48,757,166 (GRCm39)	V231A	probably damaging	Het
Itgal	A	T	7: 126,929,454 (GRCm39)	I1124F	probably benign	Het
Kash5	A	G	7: 44,843,501 (GRCm39)	L241P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Miga1	T	G	3: 151,990,954 (GRCm39)	Y433S	probably damaging	Het
Muc16	A	T	9: 18,430,926 (GRCm39)	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,706,662 (GRCm39)	V230G	possibly damaging	Het
Or52ab2	A	G	7: 102,970,278 (GRCm39)	Y220C		Het
Ptpn2	G	A	18: 67,814,592 (GRCm39)	T139M	probably damaging	Het
Pum2	T	A	12: 8,760,245 (GRCm39)	D145E	possibly damaging	Het
Radil	T	C	5: 142,480,676 (GRCm39)	E593G	probably benign	Het
Rdh14	T	C	12: 10,444,580 (GRCm39)	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Serpina6	T	C	12: 103,613,187 (GRCm39)	Y371C	probably damaging	Het
Snx13	T	A	12: 35,148,233 (GRCm39)	I254N	probably damaging	Het
Tacc1	T	C	8: 25,731,532 (GRCm39)	K7E	probably damaging	Het
Thoc2l	C	A	5: 104,667,724 (GRCm39)	Q749K	possibly damaging	Het
Timeless	A	C	10: 128,086,605 (GRCm39)	N1048T	probably benign	Het
Tll2	C	A	19: 41,081,276 (GRCm39)	E732D	probably damaging	Het
Tmem171	A	G	13: 98,828,740 (GRCm39)	S137P	probably damaging	Het
Ttll3	A	T	6: 113,371,734 (GRCm39)	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,244,939 (GRCm39)	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,258,583 (GRCm39)	L210*	probably null	Het
Vmn2r60	A	G	7: 41,844,850 (GRCm39)	I738V	probably damaging	Het
Zfp977	T	A	7: 42,229,410 (GRCm39)	M372L	probably benign	Het

Other mutations in Adgrf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Adgrf2	APN	17	43,025,206 (GRCm39)	splice site	probably benign
IGL01089:Adgrf2	APN	17	43,021,049 (GRCm39)	missense	probably damaging	1.00
IGL01601:Adgrf2	APN	17	43,020,940 (GRCm39)	missense	probably benign
IGL01765:Adgrf2	APN	17	43,030,426 (GRCm39)	missense	probably benign	0.06
IGL02946:Adgrf2	APN	17	43,021,384 (GRCm39)	missense	probably damaging	1.00
R0498:Adgrf2	UTSW	17	43,025,206 (GRCm39)	splice site	probably benign
R0720:Adgrf2	UTSW	17	43,024,063 (GRCm39)	missense	probably damaging	1.00
R0831:Adgrf2	UTSW	17	43,021,334 (GRCm39)	missense	probably damaging	0.96
R1664:Adgrf2	UTSW	17	43,025,305 (GRCm39)	missense	possibly damaging	0.92
R2008:Adgrf2	UTSW	17	43,021,013 (GRCm39)	missense	probably damaging	0.96
R2306:Adgrf2	UTSW	17	43,024,010 (GRCm39)	missense	possibly damaging	0.92
R2519:Adgrf2	UTSW	17	43,021,298 (GRCm39)	missense	probably damaging	1.00
R3713:Adgrf2	UTSW	17	43,023,979 (GRCm39)	missense	probably damaging	1.00
R3736:Adgrf2	UTSW	17	43,021,903 (GRCm39)	missense	probably benign	0.32
R4272:Adgrf2	UTSW	17	43,021,013 (GRCm39)	missense	probably damaging	0.99
R4273:Adgrf2	UTSW	17	43,021,013 (GRCm39)	missense	probably damaging	0.99
R4422:Adgrf2	UTSW	17	43,024,046 (GRCm39)	missense	probably benign
R4732:Adgrf2	UTSW	17	43,021,645 (GRCm39)	missense	probably damaging	1.00
R4733:Adgrf2	UTSW	17	43,021,645 (GRCm39)	missense	probably damaging	1.00
R4906:Adgrf2	UTSW	17	43,022,084 (GRCm39)	missense	probably benign
R5053:Adgrf2	UTSW	17	43,021,334 (GRCm39)	missense	probably damaging	0.96
R5078:Adgrf2	UTSW	17	43,021,877 (GRCm39)	missense	probably damaging	1.00
R5089:Adgrf2	UTSW	17	43,020,988 (GRCm39)	missense	probably benign	0.00
R5147:Adgrf2	UTSW	17	43,021,574 (GRCm39)	missense	probably damaging	0.99
R5953:Adgrf2	UTSW	17	43,021,229 (GRCm39)	missense	probably damaging	1.00
R5968:Adgrf2	UTSW	17	43,026,063 (GRCm39)	critical splice donor site	probably null
R6791:Adgrf2	UTSW	17	43,021,774 (GRCm39)	missense	probably benign	0.02
R7138:Adgrf2	UTSW	17	43,021,874 (GRCm39)	missense	probably damaging	1.00
R7612:Adgrf2	UTSW	17	43,025,271 (GRCm39)	missense	possibly damaging	0.68
R7670:Adgrf2	UTSW	17	43,022,263 (GRCm39)	missense	probably damaging	1.00
R8291:Adgrf2	UTSW	17	43,021,451 (GRCm39)	missense	probably damaging	1.00
R8510:Adgrf2	UTSW	17	43,030,431 (GRCm39)	nonsense	probably null
R9736:Adgrf2	UTSW	17	43,022,212 (GRCm39)	missense	probably benign	0.42
X0061:Adgrf2	UTSW	17	43,023,965 (GRCm39)	missense	probably benign	0.37
X0067:Adgrf2	UTSW	17	43,021,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGTAACGGCAAGTGTG -3'
(R):5'- TACATAGGCCTGGGCATTTC -3'

Sequencing Primer
(F):5'- CTCTGTAACGGCAAGTGTGATAATG -3'
(R):5'- ATAGGCCTGGGCATTTCCATCTG -3'

Posted On

2020-10-20