Mutagenetix > Incidental Mutation

Incidental Mutation 'R1291:Adgrf3'

150782

Institutional Source

Beutler Lab

Gene Symbol

Adgrf3

Ensembl Gene

ENSMUSG00000067642

Gene Name

adhesion G protein-coupled receptor F3

Synonyms

Gpr113, LOC381628, PGR23

MMRRC Submission

039357-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30193431-30205722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30199534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 301 (L301F)

Ref Sequence

ENSEMBL: ENSMUSP00000085440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088117] [ENSMUST00000125367]

AlphaFold

Q58Y75

Predicted Effect

probably damaging
Transcript: ENSMUST00000088117
AA Change: L301F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: L301F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
Blast:IG	163	252	2e-20	BLAST
Blast:CCP	341	399	1e-6	BLAST
low complexity region	403	415	N/A	INTRINSIC
low complexity region	471	483	N/A	INTRINSIC
GPS	632	684	2.68e-17	SMART
Pfam:7tm_2	687	935	1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125367

SMART Domains

Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135322

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	G	T	19: 23,917,672 (GRCm38)	A491S	probably damaging	Het
Bmp5	A	T	9: 75,886,673 (GRCm38)	K355*	probably null	Het
C130060K24Rik	T	A	6: 65,452,900 (GRCm38)	Y193*	probably null	Het
C330021F23Rik	T	C	8: 3,583,938 (GRCm38)	I13T	probably damaging	Het
Chdh	C	T	14: 30,031,562 (GRCm38)	R143*	probably null	Het
Evc2	A	G	5: 37,386,815 (GRCm38)	E636G	probably damaging	Het
Hmcn1	T	A	1: 150,748,191 (GRCm38)	I1120F	probably damaging	Het
Lama4	A	T	10: 39,048,069 (GRCm38)	H491L	probably benign	Het
Lrp1b	A	T	2: 41,341,895 (GRCm38)	S1074T	probably benign	Het
Nell1	T	C	7: 50,230,250 (GRCm38)	V330A	probably benign	Het
Psg20	T	C	7: 18,684,674 (GRCm38)	D56G	possibly damaging	Het
Ptk2	C	T	15: 73,210,756 (GRCm38)	V951I	probably damaging	Het
Rtel1	A	G	2: 181,351,043 (GRCm38)	D632G	probably damaging	Het
Smoc1	T	C	12: 81,179,591 (GRCm38)	F397L	probably damaging	Het
Spsb3	G	T	17: 24,887,808 (GRCm38)		probably null	Het
Srp68	A	T	11: 116,263,281 (GRCm38)	L154H	probably damaging	Het
Timp3	A	G	10: 86,345,838 (GRCm38)	Y191C	probably damaging	Het
Vmn2r50	T	C	7: 10,037,477 (GRCm38)	T766A	probably damaging	Het
Ythdc2	C	T	18: 44,855,209 (GRCm38)	S28F	probably benign	Het
Ywhaz	T	C	15: 36,772,734 (GRCm38)		probably benign	Het

Other mutations in Adgrf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03080:Adgrf3	APN	5	30,196,829 (GRCm38)	missense	probably benign	0.02
IGL03171:Adgrf3	APN	5	30,196,294 (GRCm38)	missense	probably damaging	1.00
R0010:Adgrf3	UTSW	5	30,205,609 (GRCm38)	splice site	probably benign
R0042:Adgrf3	UTSW	5	30,197,428 (GRCm38)	missense	probably damaging	1.00
R0140:Adgrf3	UTSW	5	30,196,381 (GRCm38)	missense	probably benign	0.19
R0617:Adgrf3	UTSW	5	30,195,080 (GRCm38)	missense	probably benign	0.25
R0748:Adgrf3	UTSW	5	30,196,876 (GRCm38)	missense	probably damaging	1.00
R1330:Adgrf3	UTSW	5	30,195,095 (GRCm38)	missense	probably benign	0.24
R1468:Adgrf3	UTSW	5	30,202,229 (GRCm38)	splice site	probably benign
R1695:Adgrf3	UTSW	5	30,203,555 (GRCm38)	missense	probably benign	0.05
R1716:Adgrf3	UTSW	5	30,197,551 (GRCm38)	missense	probably benign	0.03
R1844:Adgrf3	UTSW	5	30,199,213 (GRCm38)	missense	probably damaging	0.96
R1935:Adgrf3	UTSW	5	30,202,306 (GRCm38)	missense	probably benign	0.00
R1936:Adgrf3	UTSW	5	30,202,306 (GRCm38)	missense	probably benign	0.00
R2059:Adgrf3	UTSW	5	30,199,491 (GRCm38)	missense	possibly damaging	0.91
R2656:Adgrf3	UTSW	5	30,196,438 (GRCm38)	missense	possibly damaging	0.96
R2913:Adgrf3	UTSW	5	30,196,994 (GRCm38)	missense	probably damaging	1.00
R2914:Adgrf3	UTSW	5	30,196,994 (GRCm38)	missense	probably damaging	1.00
R2987:Adgrf3	UTSW	5	30,197,360 (GRCm38)	missense	probably damaging	1.00
R3797:Adgrf3	UTSW	5	30,196,823 (GRCm38)	missense	possibly damaging	0.49
R3798:Adgrf3	UTSW	5	30,196,823 (GRCm38)	missense	possibly damaging	0.49
R3799:Adgrf3	UTSW	5	30,196,823 (GRCm38)	missense	possibly damaging	0.49
R3934:Adgrf3	UTSW	5	30,200,434 (GRCm38)	unclassified	probably benign
R4043:Adgrf3	UTSW	5	30,204,362 (GRCm38)	missense	probably benign	0.00
R4080:Adgrf3	UTSW	5	30,197,369 (GRCm38)	nonsense	probably null
R4575:Adgrf3	UTSW	5	30,202,257 (GRCm38)	missense	probably benign	0.00
R4754:Adgrf3	UTSW	5	30,197,617 (GRCm38)	critical splice acceptor site	probably null
R4819:Adgrf3	UTSW	5	30,198,444 (GRCm38)	missense	possibly damaging	0.66
R4893:Adgrf3	UTSW	5	30,200,478 (GRCm38)	missense	probably benign	0.00
R4991:Adgrf3	UTSW	5	30,199,148 (GRCm38)	missense	probably benign	0.26
R5686:Adgrf3	UTSW	5	30,197,306 (GRCm38)	missense	probably damaging	1.00
R5965:Adgrf3	UTSW	5	30,205,639 (GRCm38)	missense	probably benign	0.00
R5997:Adgrf3	UTSW	5	30,198,362 (GRCm38)	critical splice donor site	probably null
R6103:Adgrf3	UTSW	5	30,196,267 (GRCm38)	missense	probably damaging	1.00
R6244:Adgrf3	UTSW	5	30,197,533 (GRCm38)	missense	probably benign	0.17
R6409:Adgrf3	UTSW	5	30,197,314 (GRCm38)	missense	probably damaging	0.96
R6575:Adgrf3	UTSW	5	30,196,524 (GRCm38)	missense	possibly damaging	0.72
R6745:Adgrf3	UTSW	5	30,203,603 (GRCm38)	missense	probably benign	0.31
R6790:Adgrf3	UTSW	5	30,196,387 (GRCm38)	missense	probably benign	0.00
R6813:Adgrf3	UTSW	5	30,197,521 (GRCm38)	missense	probably damaging	0.96
R7202:Adgrf3	UTSW	5	30,204,380 (GRCm38)	nonsense	probably null
R7250:Adgrf3	UTSW	5	30,195,682 (GRCm38)	missense	probably damaging	1.00
R7353:Adgrf3	UTSW	5	30,198,497 (GRCm38)	missense	probably damaging	0.98
R7634:Adgrf3	UTSW	5	30,202,247 (GRCm38)	missense	probably benign	0.01
R7658:Adgrf3	UTSW	5	30,197,206 (GRCm38)	missense	probably benign	0.41
R8037:Adgrf3	UTSW	5	30,199,512 (GRCm38)	missense	probably damaging	1.00
R8281:Adgrf3	UTSW	5	30,197,303 (GRCm38)	missense	possibly damaging	0.46
R8717:Adgrf3	UTSW	5	30,198,581 (GRCm38)	unclassified	probably benign
R8857:Adgrf3	UTSW	5	30,197,067 (GRCm38)	nonsense	probably null
R8926:Adgrf3	UTSW	5	30,200,448 (GRCm38)	missense	possibly damaging	0.46
R9391:Adgrf3	UTSW	5	30,195,073 (GRCm38)	missense	possibly damaging	0.94
R9446:Adgrf3	UTSW	5	30,196,959 (GRCm38)	missense	probably benign	0.01
R9522:Adgrf3	UTSW	5	30,199,484 (GRCm38)	missense	possibly damaging	0.90
Z1088:Adgrf3	UTSW	5	30,199,120 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGACTCAGTGGCTCAAGGTACAGG -3'
(R):5'- AGAGCCCAGAGCTAGAGACATTCC -3'

Sequencing Primer
(F):5'- AAGAGGCCCCATGTTTCAG -3'
(R):5'- GACATTCCAATAGGATGCACTTCAG -3'

Posted On

2014-01-29