Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Adgrf2'

471025

Institutional Source

Beutler Lab

Gene Symbol

Adgrf2

Ensembl Gene

ENSMUSG00000057899

Gene Name

adhesion G protein-coupled receptor F2

Synonyms

Gpr111, PGR20

MMRRC Submission

043245-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42708936-42742179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42710338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 532 (N532D)

Ref Sequence

ENSEMBL: ENSMUSP00000109244 (fasta)

Gene Model

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

AlphaFold

E9Q4J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000113614
AA Change: N532D

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

SMART Domains

Protein: ENSMUSP00000109244
Gene: ENSMUSG00000057899
AA Change: N532D

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clec4a3	G	T	6: 122,969,492	V232L	probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Cym	T	A	3: 107,213,467	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951	I1936N		Het
Plekhm3	C	T	1: 64,937,895	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	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
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'- AGTGACCATTAATGACTGTGGC -3'
(R):5'- TTCTGGATGCTTGCCAAGG -3'

Sequencing Primer
(F):5'- GTGACCATTAATGACTGTGGCTATCC -3'
(R):5'- GATGCTTGCCAAGGCTCTC -3'

Posted On

2017-03-31