Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Adgrf4'

226997

Institutional Source

Beutler Lab

Gene Symbol

Adgrf4

Ensembl Gene

ENSMUSG00000023918

Gene Name

adhesion G protein-coupled receptor F4

Synonyms

4632435A09Rik, Gpr115

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42967782-43003175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42977789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 518 (R518Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024711] [ENSMUST00000167993] [ENSMUST00000170723]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024711
AA Change: R518Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024711
Gene: ENSMUSG00000023918
AA Change: R518Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
low complexity region	103	112	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC
GPS	349	400	1.25e-8	SMART
Pfam:7tm_2	402	653	5.9e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167993
AA Change: R518Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132890
Gene: ENSMUSG00000023918
AA Change: R518Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
low complexity region	103	112	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC
GPS	349	400	1.25e-8	SMART
Pfam:7tm_2	402	653	5.9e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170723
AA Change: R518Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133261
Gene: ENSMUSG00000023918
AA Change: R518Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
low complexity region	103	112	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC
GPS	349	400	1.25e-8	SMART
Pfam:7tm_2	402	653	9.2e-36	PFAM

Meta Mutation Damage Score

0.0915

Coding Region Coverage

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

Validation Efficiency

100% (104/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,012,341 (GRCm39)	V86A	probably benign	Het
Abcc3	A	T	11: 94,255,243 (GRCm39)	I601N	probably damaging	Het
Abl2	T	A	1: 156,448,397 (GRCm39)		probably null	Het
Ahi1	C	T	10: 20,835,895 (GRCm39)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,601 (GRCm39)	G247D	probably damaging	Het
Arid2	C	T	15: 96,260,471 (GRCm39)	L407F	probably damaging	Het
Atp13a1	T	C	8: 70,252,423 (GRCm39)	F606L	probably benign	Het
Avl9	T	A	6: 56,713,420 (GRCm39)		probably benign	Het
B3glct	C	T	5: 149,632,845 (GRCm39)	A65V	probably damaging	Het
Bcorl1	T	C	X: 47,490,794 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,187,496 (GRCm39)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,228,075 (GRCm39)	M263T	probably benign	Het
Brd8	T	C	18: 34,747,532 (GRCm39)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,848,041 (GRCm39)	D1052G	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 96,283,924 (GRCm39)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,896,938 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,429 (GRCm39)	F37S	probably benign	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,477,797 (GRCm39)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,372,684 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,652,453 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,962,556 (GRCm39)	F771S	probably damaging	Het
Chil4	G	A	3: 106,126,771 (GRCm39)	L4F	probably benign	Het
Cilp	G	A	9: 65,185,372 (GRCm39)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Coq8b	A	G	7: 26,956,802 (GRCm39)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,783,412 (GRCm39)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,534 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,566 (GRCm39)	V156A	probably damaging	Het
Duox1	A	T	2: 122,163,543 (GRCm39)	T792S	probably benign	Het
Duox2	T	C	2: 122,117,589 (GRCm39)	D915G	probably benign	Het
Efcab5	A	T	11: 77,063,147 (GRCm39)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,923,959 (GRCm39)	D139N	probably benign	Het
Erg	A	G	16: 95,161,937 (GRCm39)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,690,811 (GRCm39)	S650R	probably damaging	Het
Fbp2	T	A	13: 63,001,875 (GRCm39)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,588,716 (GRCm39)	S496A	probably damaging	Het
Gab3	C	A	X: 74,043,701 (GRCm39)	R475L	probably damaging	Het
Gsap	T	C	5: 21,431,837 (GRCm39)		probably benign	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm39)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Insc	G	T	7: 114,403,828 (GRCm39)		probably null	Het
Jph2	A	G	2: 163,181,605 (GRCm39)	S520P	possibly damaging	Het
Kidins220	T	A	12: 25,037,005 (GRCm39)		probably benign	Het
Krtap29-1	A	G	11: 99,869,438 (GRCm39)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,840,507 (GRCm39)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,840,853 (GRCm39)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,392,768 (GRCm39)		probably benign	Het
Mboat2	T	C	12: 25,001,442 (GRCm39)	V281A	probably benign	Het
Mdga2	G	A	12: 66,615,691 (GRCm39)	R570*	probably null	Het
Mlxipl	A	G	5: 135,135,859 (GRCm39)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,355,734 (GRCm39)	I679M	probably benign	Het
Myh4	T	C	11: 67,137,192 (GRCm39)		probably benign	Het
Nfib	A	C	4: 82,416,852 (GRCm39)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,325,907 (GRCm39)	Y227*	probably null	Het
Nrde2	A	G	12: 100,108,491 (GRCm39)	S367P	probably damaging	Het
Nup93	C	A	8: 94,970,367 (GRCm39)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or10a2	A	T	7: 106,673,826 (GRCm39)	K264*	probably null	Het
Or11h4	T	A	14: 50,974,033 (GRCm39)	E195D	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k77	A	G	2: 111,199,440 (GRCm39)	I154M	probably benign	Het
Or6b9	A	T	7: 106,555,494 (GRCm39)	Y216*	probably null	Het
Or9r7	A	G	10: 129,962,074 (GRCm39)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,122,007 (GRCm39)	A319S	probably null	Het
P2ry10	A	G	X: 106,146,859 (GRCm39)	S265G	probably benign	Het
Peak1	A	T	9: 56,166,043 (GRCm39)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,705,432 (GRCm39)	Q168L	probably benign	Het
Plaat5	T	C	19: 7,590,003 (GRCm39)	S10P	possibly damaging	Het
Plec	A	G	15: 76,073,126 (GRCm39)	M604T	probably benign	Het
Pmfbp1	A	T	8: 110,258,735 (GRCm39)	N680I	possibly damaging	Het
Pnma8b	T	C	7: 16,679,714 (GRCm39)	W233R	probably damaging	Het
Pxn	A	G	5: 115,683,726 (GRCm39)	N186S	probably benign	Het
Rsad1	A	C	11: 94,439,951 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,046,229 (GRCm39)	I112T	probably benign	Het
S1pr2	A	T	9: 20,878,790 (GRCm39)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,638,276 (GRCm39)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 65,698,235 (GRCm39)	V242D	probably damaging	Het
Sp100	A	G	1: 85,608,863 (GRCm39)		probably null	Het
Spryd3	A	C	15: 102,026,616 (GRCm39)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,999,171 (GRCm39)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,131,266 (GRCm39)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,829 (GRCm39)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,751,842 (GRCm39)	D1154E	unknown	Het
Trap1	A	G	16: 3,886,200 (GRCm39)	S86P	probably benign	Het
Trim32	T	A	4: 65,533,013 (GRCm39)	C523*	probably null	Het
Ttc38	G	T	15: 85,722,989 (GRCm39)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,678,570 (GRCm39)	L131Q	probably damaging	Het
Ttn	T	C	2: 76,557,192 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubash3b	G	A	9: 40,954,869 (GRCm39)	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,859,397 (GRCm39)	N367S	probably damaging	Het
Ubr4	T	A	4: 139,206,851 (GRCm39)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm39)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,201,442 (GRCm39)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,519 (GRCm39)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 41,949,425 (GRCm39)	D615G	probably benign	Het
Wdr24	T	A	17: 26,045,256 (GRCm39)	D330E	probably damaging	Het
Zbbx	A	T	3: 74,985,719 (GRCm39)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,676,529 (GRCm39)	Q757L	probably damaging	Het
Zpld2	T	G	4: 133,929,252 (GRCm39)	N351T	possibly damaging	Het

Other mutations in Adgrf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Adgrf4	APN	17	42,977,547 (GRCm39)	missense	probably damaging	1.00
IGL00474:Adgrf4	APN	17	42,986,650 (GRCm39)	missense	probably damaging	0.97
IGL00913:Adgrf4	APN	17	42,977,793 (GRCm39)	missense	possibly damaging	0.81
IGL02134:Adgrf4	APN	17	42,980,581 (GRCm39)	missense	probably damaging	1.00
IGL02225:Adgrf4	APN	17	42,974,269 (GRCm39)	critical splice donor site	probably null
IGL02423:Adgrf4	APN	17	42,983,467 (GRCm39)	missense	probably benign	0.06
IGL02945:Adgrf4	APN	17	42,978,257 (GRCm39)	missense	probably benign
R0329:Adgrf4	UTSW	17	42,978,204 (GRCm39)	missense	probably damaging	1.00
R0330:Adgrf4	UTSW	17	42,978,204 (GRCm39)	missense	probably damaging	1.00
R1595:Adgrf4	UTSW	17	42,978,764 (GRCm39)	missense	probably benign	0.09
R1739:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R1762:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R1783:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R1785:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R2038:Adgrf4	UTSW	17	42,978,754 (GRCm39)	missense	probably damaging	1.00
R2140:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R2142:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R2230:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R2232:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
R2288:Adgrf4	UTSW	17	42,978,402 (GRCm39)	missense	probably benign
R3107:Adgrf4	UTSW	17	42,977,758 (GRCm39)	nonsense	probably null
R3732:Adgrf4	UTSW	17	42,983,472 (GRCm39)	missense	probably damaging	1.00
R4003:Adgrf4	UTSW	17	42,980,650 (GRCm39)	missense	probably damaging	1.00
R4158:Adgrf4	UTSW	17	42,978,568 (GRCm39)	missense	probably benign
R4160:Adgrf4	UTSW	17	42,978,568 (GRCm39)	missense	probably benign
R4163:Adgrf4	UTSW	17	42,978,477 (GRCm39)	missense	probably benign
R4865:Adgrf4	UTSW	17	42,978,156 (GRCm39)	missense	probably damaging	1.00
R4940:Adgrf4	UTSW	17	42,977,420 (GRCm39)	missense	possibly damaging	0.90
R5411:Adgrf4	UTSW	17	42,978,104 (GRCm39)	missense	probably damaging	1.00
R5512:Adgrf4	UTSW	17	42,978,176 (GRCm39)	missense	probably benign	0.03
R6421:Adgrf4	UTSW	17	42,983,392 (GRCm39)	missense	probably damaging	1.00
R7089:Adgrf4	UTSW	17	42,977,424 (GRCm39)	missense	possibly damaging	0.95
R7261:Adgrf4	UTSW	17	42,978,326 (GRCm39)	missense	probably benign	0.01
R7359:Adgrf4	UTSW	17	42,978,003 (GRCm39)	missense	possibly damaging	0.78
R7502:Adgrf4	UTSW	17	42,980,548 (GRCm39)	missense	possibly damaging	0.53
R7522:Adgrf4	UTSW	17	42,980,675 (GRCm39)	missense	probably benign	0.04
R7555:Adgrf4	UTSW	17	42,983,494 (GRCm39)	missense	probably benign	0.16
R7567:Adgrf4	UTSW	17	42,978,333 (GRCm39)	missense	probably benign
R7743:Adgrf4	UTSW	17	42,983,453 (GRCm39)	nonsense	probably null
R8002:Adgrf4	UTSW	17	42,978,683 (GRCm39)	missense	probably benign	0.05
R8210:Adgrf4	UTSW	17	42,978,441 (GRCm39)	missense	probably damaging	1.00
R8344:Adgrf4	UTSW	17	42,977,799 (GRCm39)	missense	probably benign	0.00
R8429:Adgrf4	UTSW	17	42,978,340 (GRCm39)	missense	probably benign
R9131:Adgrf4	UTSW	17	42,978,258 (GRCm39)	missense	probably benign	0.00
R9159:Adgrf4	UTSW	17	42,973,293 (GRCm39)	missense	probably benign
R9214:Adgrf4	UTSW	17	42,978,704 (GRCm39)	missense	possibly damaging	0.89
R9226:Adgrf4	UTSW	17	42,980,606 (GRCm39)	missense	probably damaging	1.00
R9237:Adgrf4	UTSW	17	42,980,782 (GRCm39)	missense	probably benign
R9546:Adgrf4	UTSW	17	42,978,283 (GRCm39)	nonsense	probably null
X0027:Adgrf4	UTSW	17	42,978,419 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGAGATTCACAGCCACAATG -3'
(R):5'- TCGTGAACATTGCAGTGTCC -3'

Sequencing Primer
(F):5'- CACAATGGCCAAGGCTGG -3'
(R):5'- TCCTGACTGCCAATGTGTG -3'

Posted On

2014-09-17