Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Adgrf2'

532613

Institutional Source

Beutler Lab

Gene Symbol

Adgrf2

Ensembl Gene

ENSMUSG00000057899

Gene Name

adhesion G protein-coupled receptor F2

Synonyms

Gpr111, PGR20

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42708936-42742179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42710883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 350 (N350S)

Ref Sequence

ENSEMBL: ENSMUSP00000109244 (fasta)

Gene Model

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

AlphaFold

E9Q4J9

Predicted Effect

probably benign
Transcript: ENSMUST00000113614
AA Change: N350S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109244
Gene: ENSMUSG00000057899
AA Change: N350S

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

Meta Mutation Damage Score

0.0968

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,378,504	C3526S	probably damaging	Het
Atp12a	G	A	14: 56,386,982		probably null	Het
AW551984	T	G	9: 39,600,659	S19R	probably damaging	Het
Bet1l	A	G	7: 140,854,505	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414	I494M	possibly damaging	Het
Cog3	A	G	14: 75,730,678	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518	P1060S	probably damaging	Het
Ctrb1	A	G	8: 111,689,349	V71A	possibly damaging	Het
Ddhd2	T	C	8: 25,752,215	Y211C	probably benign	Het
Fbxl20	T	C	11: 98,109,510	T128A	probably benign	Het
Fdps	A	G	3: 89,095,352		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,341,499		probably benign	Het
Gm8369	T	A	19: 11,511,836		probably benign	Het
Grm6	T	C	11: 50,859,774	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,758,341	L174S	probably benign	Het
Kif1a	G	A	1: 93,066,137	P364S	probably damaging	Het
Klk7	A	G	7: 43,813,260	D163G	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,499,476		probably benign	Het
Lamb3	T	C	1: 193,334,861	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,600,753	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,141,807		probably benign	Het
Mllt6	T	C	11: 97,680,602	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,805,382	I521T	probably benign	Het
Naalad2	T	C	9: 18,385,130	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,819,108	I83N	probably damaging	Het
Naip2	T	C	13: 100,154,960	S1157G	probably benign	Het
Neurl4	T	A	11: 69,908,510	L904Q	probably damaging	Het
Ngp	A	C	9: 110,419,949	I30L	probably benign	Het
Olfr312	T	C	11: 58,832,077	Y308H	probably benign	Het
Olfr787	G	A	10: 129,463,154	M159I	probably benign	Het
Orm2	A	T	4: 63,363,959	M125L	probably benign	Het
Pax2	A	T	19: 44,788,821	D151V	possibly damaging	Het
Polg	A	G	7: 79,460,109	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,307,676	G724W	probably damaging	Het
Pramef6	T	A	4: 143,895,682	I368F	probably benign	Het
Prss16	A	T	13: 22,006,067	V307E	probably damaging	Het
Prss54	T	G	8: 95,564,655		probably null	Het
Rspo1	A	G	4: 125,007,183	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,346,272	H352N	probably damaging	Het
Skor1	T	C	9: 63,140,354		probably null	Het
Smad6	A	G	9: 64,012,227	Y289H	probably benign	Het
Spg11	T	C	2: 122,093,443	E799G	probably damaging	Het
Spg20	G	A	3: 55,127,561	G456D	probably damaging	Het
Tbc1d4	T	G	14: 101,608,259	K68Q	probably damaging	Het
Treml2	A	G	17: 48,309,219	M296V	probably benign	Het
Ugt2b1	C	A	5: 86,919,257	D436Y	probably damaging	Het
Usp9y	A	T	Y: 1,325,042		probably null	Homo
Vmn2r6	T	C	3: 64,538,159	Y626C	probably damaging	Het
Xpc	G	A	6: 91,506,857	A169V	probably benign	Het
Zfp131	A	G	13: 119,766,593	V506A	probably damaging	Het
Zfp74	A	G	7: 29,934,435	I616T	probably benign	Het

Other mutations in Adgrf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Adgrf2	APN	17	42714315	splice site	probably benign
IGL01089:Adgrf2	APN	17	42710158	missense	probably damaging	1.00
IGL01601:Adgrf2	APN	17	42710049	missense	probably benign
IGL01765:Adgrf2	APN	17	42719535	missense	probably benign	0.06
IGL02946:Adgrf2	APN	17	42710493	missense	probably damaging	1.00
R0498:Adgrf2	UTSW	17	42714315	splice site	probably benign
R0720:Adgrf2	UTSW	17	42713172	missense	probably damaging	1.00
R0831:Adgrf2	UTSW	17	42710443	missense	probably damaging	0.96
R1664:Adgrf2	UTSW	17	42714414	missense	possibly damaging	0.92
R2008:Adgrf2	UTSW	17	42710122	missense	probably damaging	0.96
R2306:Adgrf2	UTSW	17	42713119	missense	possibly damaging	0.92
R2519:Adgrf2	UTSW	17	42710407	missense	probably damaging	1.00
R3713:Adgrf2	UTSW	17	42713088	missense	probably damaging	1.00
R3736:Adgrf2	UTSW	17	42711012	missense	probably benign	0.32
R4272:Adgrf2	UTSW	17	42710122	missense	probably damaging	0.99
R4273:Adgrf2	UTSW	17	42710122	missense	probably damaging	0.99
R4422:Adgrf2	UTSW	17	42713155	missense	probably benign
R4732:Adgrf2	UTSW	17	42710754	missense	probably damaging	1.00
R4733:Adgrf2	UTSW	17	42710754	missense	probably damaging	1.00
R4906:Adgrf2	UTSW	17	42711193	missense	probably benign
R5053:Adgrf2	UTSW	17	42710443	missense	probably damaging	0.96
R5078:Adgrf2	UTSW	17	42710986	missense	probably damaging	1.00
R5089:Adgrf2	UTSW	17	42710097	missense	probably benign	0.00
R5147:Adgrf2	UTSW	17	42710683	missense	probably damaging	0.99
R5953:Adgrf2	UTSW	17	42710338	missense	probably damaging	1.00
R5968:Adgrf2	UTSW	17	42715172	critical splice donor site	probably null
R7138:Adgrf2	UTSW	17	42710983	missense	probably damaging	1.00
R7612:Adgrf2	UTSW	17	42714380	missense	possibly damaging	0.68
R7670:Adgrf2	UTSW	17	42711372	missense	probably damaging	1.00
R8291:Adgrf2	UTSW	17	42710560	missense	probably damaging	1.00
R8418:Adgrf2	UTSW	17	42710586	missense	probably benign	0.01
R8510:Adgrf2	UTSW	17	42719540	nonsense	probably null
R9736:Adgrf2	UTSW	17	42711321	missense	probably benign	0.42
X0061:Adgrf2	UTSW	17	42713074	missense	probably benign	0.37
X0067:Adgrf2	UTSW	17	42710668	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAGCGATGCACAGGTGAC -3'
(R):5'- AAAATGTGACTGTGAATGGGCTC -3'

Sequencing Primer
(F):5'- TGTCACTTGACTCCAGACTAAG -3'
(R):5'- GAATGGGCTCGTCCTGTC -3'

Posted On

2018-08-29