Mutagenetix > Incidental Mutation

Incidental Mutation 'R1716:Adgrf3'

190998

Institutional Source

Beutler Lab

Gene Symbol

Adgrf3

Ensembl Gene

ENSMUSG00000067642

Gene Name

adhesion G protein-coupled receptor F3

Synonyms

Gpr113, LOC381628, PGR23

MMRRC Submission

039749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30193431-30205722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30197551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 493 (Q493L)

Ref Sequence

ENSEMBL: ENSMUSP00000085440 (fasta)

Gene Model

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

AlphaFold

Q58Y75

Predicted Effect

probably benign
Transcript: ENSMUST00000088117
AA Change: Q493L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: Q493L

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 79,082,198 (GRCm38)	T2A	unknown	Het
Ak6	T	C	13: 100,655,669 (GRCm38)	S207P	probably benign	Het
Ang	A	G	14: 51,101,480 (GRCm38)	D26G	probably benign	Het
Ang	T	C	14: 51,101,500 (GRCm38)	F33L	probably damaging	Het
Arhgef38	T	A	3: 133,140,837 (GRCm38)	Y389F	probably benign	Het
Arhgef7	C	A	8: 11,808,713 (GRCm38)		probably null	Het
Bicd2	C	A	13: 49,378,310 (GRCm38)	H343N	probably benign	Het
Casp4	G	A	9: 5,308,919 (GRCm38)		probably null	Het
Cd22	A	G	7: 30,877,678 (GRCm38)	F68S	probably damaging	Het
Cd46	T	A	1: 195,077,809 (GRCm38)	Q245L	probably benign	Het
Cntnap2	A	T	6: 47,107,892 (GRCm38)	R1096*	probably null	Het
Cntnap3	A	G	13: 64,762,002 (GRCm38)	V763A	probably damaging	Het
Cyp3a11	T	C	5: 145,868,966 (GRCm38)	T171A	probably benign	Het
Defa30	A	G	8: 21,135,415 (GRCm38)	Y65C	probably damaging	Het
Defb18	A	T	1: 18,236,651 (GRCm38)	M27K	probably benign	Het
Dnah17	A	G	11: 118,032,598 (GRCm38)	S4071P	probably benign	Het
Dnah7b	T	A	1: 46,191,783 (GRCm38)	D1400E	probably damaging	Het
Dpysl5	C	T	5: 30,777,994 (GRCm38)	T147I	probably benign	Het
Dsg4	C	T	18: 20,462,461 (GRCm38)	R574*	probably null	Het
Epm2a	A	G	10: 11,448,836 (GRCm38)	E223G	probably benign	Het
Etl4	T	C	2: 20,743,681 (GRCm38)	S75P	probably damaging	Het
Fam189a1	A	T	7: 64,776,885 (GRCm38)		probably null	Het
Fbxw15	T	A	9: 109,557,136 (GRCm38)	M312L	probably benign	Het
Fcgr4	C	T	1: 171,020,103 (GRCm38)	T90I	probably damaging	Het
Fras1	T	A	5: 96,552,725 (GRCm38)	D201E	probably benign	Het
Gadl1	A	T	9: 116,006,508 (GRCm38)	K335*	probably null	Het
Gcsam	T	G	16: 45,619,993 (GRCm38)	V133G	probably damaging	Het
Gml	G	T	15: 74,813,816 (GRCm38)	L107I	possibly damaging	Het
Golga2	T	A	2: 32,302,897 (GRCm38)	L409Q	probably damaging	Het
Gtf2a1l	A	T	17: 88,694,580 (GRCm38)	Q241L	probably benign	Het
Gtf3c3	A	G	1: 54,399,260 (GRCm38)	Y799H	probably damaging	Het
Guca1b	T	G	17: 47,391,201 (GRCm38)		probably benign	Het
Igdcc4	C	A	9: 65,126,897 (GRCm38)	H617Q	probably damaging	Het
Ip6k1	G	A	9: 108,040,996 (GRCm38)	E77K	possibly damaging	Het
Itga2b	A	C	11: 102,460,777 (GRCm38)	I574S	probably benign	Het
Kcnk7	A	T	19: 5,706,831 (GRCm38)	I283F	probably damaging	Het
Kirrel3	T	A	9: 35,023,547 (GRCm38)	L450M	probably damaging	Het
Lmntd1	A	T	6: 145,419,874 (GRCm38)	S176R	probably damaging	Het
Lrrc39	C	T	3: 116,579,567 (GRCm38)	T292I	probably benign	Het
Ltbp1	A	T	17: 75,315,024 (GRCm38)	H801L	probably benign	Het
Macf1	T	A	4: 123,401,403 (GRCm38)	Q3318L	probably damaging	Het
Man1b1	T	A	2: 25,345,020 (GRCm38)	N282K	probably benign	Het
Map2k6	A	T	11: 110,497,901 (GRCm38)	E223V	probably damaging	Het
Marf1	C	A	16: 14,142,586 (GRCm38)	R531S	possibly damaging	Het
Mfge8	G	A	7: 79,142,443 (GRCm38)	R245C	probably damaging	Het
Mgea5	C	A	19: 45,752,174 (GRCm38)	K907N	probably benign	Het
Mogat1	T	G	1: 78,538,044 (GRCm38)	N318K	probably benign	Het
Myh4	T	A	11: 67,250,309 (GRCm38)	S732R	possibly damaging	Het
Myt1l	T	A	12: 29,811,538 (GRCm38)	D106E	unknown	Het
Ndc1	T	C	4: 107,384,795 (GRCm38)	F302L	probably damaging	Het
Ndrg4	C	T	8: 95,712,328 (GRCm38)	A290V	probably benign	Het
Nfia	A	T	4: 98,063,128 (GRCm38)	K397N	probably damaging	Het
Nlrp4e	A	T	7: 23,321,033 (GRCm38)	Q315L	possibly damaging	Het
Olfr51	T	A	11: 51,007,852 (GRCm38)	N293K	probably damaging	Het
Olfr9	A	C	10: 128,990,852 (GRCm38)	*313C	probably null	Het
Peg3	T	C	7: 6,707,781 (GRCm38)	I1481V	possibly damaging	Het
Phldb2	C	T	16: 45,775,050 (GRCm38)	G883D	probably benign	Het
Pik3c2b	T	A	1: 133,094,826 (GRCm38)	Y1169N	probably damaging	Het
Plcl1	A	T	1: 55,695,838 (GRCm38)	I113F	probably damaging	Het
Pomt2	T	C	12: 87,124,836 (GRCm38)	I457V	probably benign	Het
Ppil1	T	C	17: 29,261,835 (GRCm38)	N38S	possibly damaging	Het
Prf1	A	G	10: 61,300,452 (GRCm38)	N169S	probably benign	Het
Prmt8	A	C	6: 127,726,523 (GRCm38)		probably null	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Rab12	A	T	17: 66,500,320 (GRCm38)	M138K	possibly damaging	Het
Reln	T	C	5: 21,955,095 (GRCm38)	T2159A	probably damaging	Het
Retsat	A	T	6: 72,606,080 (GRCm38)	Y36F	probably damaging	Het
Rgs14	A	T	13: 55,378,883 (GRCm38)	Q116L	probably damaging	Het
Rlbp1	A	T	7: 79,375,936 (GRCm38)	N252K	probably damaging	Het
Rtraf	A	G	14: 19,812,174 (GRCm38)	L215P	probably damaging	Het
Sec1	A	T	7: 45,679,365 (GRCm38)	M86K	probably benign	Het
Sec24b	A	T	3: 130,041,016 (GRCm38)	S42T	possibly damaging	Het
Serpinb9d	T	C	13: 33,196,517 (GRCm38)	S129P	probably damaging	Het
Slc35f5	T	G	1: 125,584,532 (GRCm38)	D356E	possibly damaging	Het
Smpd4	T	C	16: 17,642,501 (GRCm38)	S694P	probably damaging	Het
Spag6	G	T	2: 18,745,609 (GRCm38)		probably null	Het
Spata31d1c	T	C	13: 65,033,216 (GRCm38)	I43T	possibly damaging	Het
Ssh1	T	C	5: 113,952,020 (GRCm38)	D314G	possibly damaging	Het
Tnfrsf17	G	A	16: 11,319,731 (GRCm38)	D111N	probably benign	Het
Ttn	A	T	2: 76,783,976 (GRCm38)	F8737L	probably damaging	Het
Ttn	A	G	2: 76,723,291 (GRCm38)	I30994T	probably damaging	Het
Ush1c	G	T	7: 46,195,728 (GRCm38)	F890L	probably benign	Het
Usp36	C	T	11: 118,272,131 (GRCm38)		probably null	Het
Vmn2r115	T	C	17: 23,347,821 (GRCm38)	Y436H	probably benign	Het
Vmn2r94	T	A	17: 18,257,373 (GRCm38)	M259L	probably benign	Het
Wwp1	T	C	4: 19,659,698 (GRCm38)	T197A	probably benign	Het
Zbtb37	T	A	1: 161,020,244 (GRCm38)	M398L	probably benign	Het
Zfp804b	C	T	5: 6,769,673 (GRCm38)	C1130Y	probably benign	Het
Zfp9	A	G	6: 118,464,751 (GRCm38)	C317R	probably damaging	Het
Zscan20	T	C	4: 128,586,541 (GRCm38)	H719R	probably damaging	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
R1291:Adgrf3	UTSW	5	30,199,534 (GRCm38)	missense	probably damaging	0.99
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
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'- TATGGAGACCACAAGGATCAGCCC -3'
(R):5'- TTGCAGAACTGGACAAGCTACGG -3'

Sequencing Primer
(F):5'- GACGTTAGTTCCACTATGGACCAG -3'
(R):5'- GTAGATTTGGAGACCATGATCCC -3'

Posted On

2014-05-14