Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Adgrf2'

254272

Institutional Source

Beutler Lab

Gene Symbol

Adgrf2

Ensembl Gene

ENSMUSG00000057899

Gene Name

adhesion G protein-coupled receptor F2

Synonyms

Gpr111, PGR20

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42708936-42742179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42710407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 509 (I509F)

Ref Sequence

ENSEMBL: ENSMUSP00000109244 (fasta)

Gene Model

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

AlphaFold

E9Q4J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000113614
AA Change: I509F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109244
Gene: ENSMUSG00000057899
AA Change: I509F

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

0.3888

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,589,588		probably benign	Het
Actn1	A	T	12: 80,192,389	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,410,956	C323R	probably damaging	Het
Aknad1	A	T	3: 108,756,468	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,422,299	D39G	probably benign	Het
Alms1	C	A	6: 85,667,963		probably benign	Het
Ankhd1	T	G	18: 36,578,543		probably null	Het
Arfgef2	T	C	2: 166,881,244	S1535P	probably benign	Het
BC027072	C	T	17: 71,751,647	S345N	probably damaging	Het
Bicc1	T	C	10: 70,930,644	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,179	D381E	possibly damaging	Het
Btbd11	T	A	10: 85,651,611	V981D	probably damaging	Het
Carnmt1	A	G	19: 18,693,711	I316V	probably benign	Het
Chd6	T	A	2: 161,029,876	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,510,148	W226R	unknown	Het
Cyp2d9	G	A	15: 82,454,518		probably null	Het
Ddx42	T	A	11: 106,245,329	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,129,323	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,222,875	V131A	probably benign	Het
Dock6	T	C	9: 21,816,333	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,855,543	Y377*	probably null	Het
Eif4g3	T	A	4: 138,097,318	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,616,194	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,810,952	Y328*	probably null	Het
Fmo3	A	T	1: 162,958,305	V372D	probably damaging	Het
Gm10639	T	G	9: 78,304,439	L161R	probably damaging	Het
Gm12184	A	G	11: 48,826,123	I76T	probably damaging	Het
Gm5065	A	T	7: 5,359,834	I155F	probably damaging	Het
Gtf2h4	C	A	17: 35,670,909	G143W	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn1	A	T	1: 150,773,820	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,048,292	Q101L	probably damaging	Het
Lipf	G	T	19: 33,965,525	V78L	probably damaging	Het
Magi3	T	C	3: 104,015,765	E1212G	probably benign	Het
Mfap5	T	C	6: 122,525,989	S75P	probably damaging	Het
Mn1	C	A	5: 111,418,552	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,862,539		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myo5c	A	G	9: 75,250,436	I224V	probably damaging	Het
Nupl1	T	C	14: 60,223,359	T486A	probably benign	Het
Olfr1026	A	G	2: 85,923,607	Y113C	probably damaging	Het
Olfr910	T	A	9: 38,538,985	V30D	probably damaging	Het
Parp14	A	T	16: 35,858,203	L465Q	possibly damaging	Het
Plcd3	A	T	11: 103,080,400	I110N	possibly damaging	Het
Prx	A	G	7: 27,518,243	E862G	probably benign	Het
Rad50	G	A	11: 53,707,185		probably benign	Het
Rbm15	A	G	3: 107,330,833	S750P	probably benign	Het
Reln	C	A	5: 22,344,369	A14S	unknown	Het
Rph3a	T	C	5: 120,954,422	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,799,539	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,401,323	D122G	probably damaging	Het
Slc25a32	A	T	15: 39,096,055	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,602,761	S142T	probably benign	Het
Srm	A	G	4: 148,591,504		probably null	Het
Srsf5	A	G	12: 80,949,096	D123G	probably damaging	Het
Stab1	A	T	14: 31,154,872	C832S	probably damaging	Het
Stab2	A	C	10: 86,934,840		probably benign	Het
Suds3	T	C	5: 117,094,953	N282S	probably damaging	Het
Taar9	A	T	10: 24,109,254	V94E	probably damaging	Het
Taf2	C	A	15: 55,052,247	A428S	probably benign	Het
Tbk1	G	T	10: 121,557,259	T462K	probably benign	Het
Tcaf2	T	G	6: 42,629,431	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,593,914	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714	Y523*	probably null	Het
Tpte	T	C	8: 22,333,160		probably benign	Het
Trpv5	T	A	6: 41,674,350	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,624,616	Q457*	probably null	Het
Ush2a	A	T	1: 188,267,107	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,561,718	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,074,018	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,378,708	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,902,875	V248A	probably benign	Het
Wnk2	T	C	13: 49,071,029	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp229	T	A	17: 21,745,587	F266Y	possibly damaging	Het
Zfp616	T	A	11: 74,084,268	C454*	probably null	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
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
R6791:Adgrf2	UTSW	17	42710883	missense	probably benign	0.02
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'- TCCTGGAACATGGAACTACCG -3'
(R):5'- TCAGTGGCCCAGTACTACAC -3'

Sequencing Primer
(F):5'- AACTACCGATGGCAGCTCTCTG -3'
(R):5'- CCAGTACTACACCACAATGGATG -3'

Posted On

2014-12-04