Mutagenetix > Incidental Mutation

Incidental Mutation 'R5512:Adgrf4'

440142

Institutional Source

Beutler Lab

Gene Symbol

Adgrf4

Ensembl Gene

ENSMUSG00000023918

Gene Name

adhesion G protein-coupled receptor F4

Synonyms

4632435A09Rik, Gpr115

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42967782-43003175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42978176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 389 (T389K)

Ref Sequence

ENSEMBL: ENSMUSP00000133261 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024711
AA Change: T389K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024711
Gene: ENSMUSG00000023918
AA Change: T389K

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

probably benign
Transcript: ENSMUST00000167993
AA Change: T389K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132890
Gene: ENSMUSG00000023918
AA Change: T389K

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

probably benign
Transcript: ENSMUST00000170723
AA Change: T389K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133261
Gene: ENSMUSG00000023918
AA Change: T389K

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,389 (GRCm39)	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Adgre5	T	C	8: 84,455,715 (GRCm39)	N198D	probably benign	Het
Apc	T	A	18: 34,443,962 (GRCm39)		probably benign	Het
Appl2	T	A	10: 83,441,682 (GRCm39)	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,632,845 (GRCm39)	Q531*	probably null	Het
Atp7b	T	C	8: 22,502,755 (GRCm39)	T694A	probably benign	Het
Cacna1g	T	A	11: 94,334,968 (GRCm39)	I780F	probably damaging	Het
Calcoco2	T	C	11: 95,994,162 (GRCm39)	K95E	probably damaging	Het
Cars1	T	C	7: 143,123,870 (GRCm39)	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,393,806 (GRCm39)	E690A	probably damaging	Het
Cdc73	G	T	1: 143,578,354 (GRCm39)	D3E	probably damaging	Het
Cdh23	C	A	10: 60,370,165 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,699,919 (GRCm39)	S143P	possibly damaging	Het
Cherp	T	C	8: 73,217,110 (GRCm39)	I607V	possibly damaging	Het
CN725425	T	A	15: 91,124,959 (GRCm39)	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,227,404 (GRCm39)	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,624,825 (GRCm39)	P881S	possibly damaging	Het
Drgx	A	G	14: 32,322,001 (GRCm39)	H5R	probably damaging	Het
Dsg1c	A	T	18: 20,405,568 (GRCm39)	N327I	probably damaging	Het
Fbxw7	G	A	3: 84,862,216 (GRCm39)	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,888,183 (GRCm39)	V24E	probably benign	Het
Fut11	T	C	14: 20,746,069 (GRCm39)	S304P	probably damaging	Het
Ggt1	C	T	10: 75,420,718 (GRCm39)	T361I	probably damaging	Het
Gimap7	G	T	6: 48,700,530 (GRCm39)	A39S	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm17541	G	T	12: 4,739,452 (GRCm39)		probably benign	Het
Gmip	T	A	8: 70,270,540 (GRCm39)	V750E	probably benign	Het
Gna14	A	G	19: 16,585,492 (GRCm39)	E290G	probably benign	Het
Gpnmb	T	C	6: 49,022,398 (GRCm39)	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,795,865 (GRCm39)	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,760,521 (GRCm39)	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,811,884 (GRCm39)	Q706*	probably null	Het
Krt222	A	C	11: 99,125,781 (GRCm39)	S283R	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Masp2	A	T	4: 148,698,526 (GRCm39)	I536F	probably damaging	Het
Mptx1	A	G	1: 174,160,315 (GRCm39)	D207G	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Napsa	A	G	7: 44,222,040 (GRCm39)	M1V	probably null	Het
Ncam1	A	T	9: 49,420,999 (GRCm39)		probably null	Het
Nckap5	G	A	1: 125,955,481 (GRCm39)	P425L	possibly damaging	Het
Nol8	A	G	13: 49,830,263 (GRCm39)	S1116G	probably benign	Het
Nrde2	G	T	12: 100,108,509 (GRCm39)	Q361K	probably benign	Het
Nudt13	G	A	14: 20,357,800 (GRCm39)	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,360,286 (GRCm39)	Q248K	probably benign	Het
Olfm4	A	G	14: 80,258,787 (GRCm39)	D345G	probably benign	Het
Or2t6	C	A	14: 14,175,633 (GRCm38)	G150C	probably damaging	Het
Or4k41	G	A	2: 111,280,099 (GRCm39)	V205I	probably benign	Het
Osbpl3	T	G	6: 50,286,340 (GRCm39)	K659N	probably damaging	Het
Pdk2	G	A	11: 94,930,292 (GRCm39)	T48M	probably damaging	Het
Phf11a	A	T	14: 59,524,999 (GRCm39)	D68E	probably benign	Het
Purb	A	G	11: 6,425,702 (GRCm39)	V62A	probably damaging	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,557,805 (GRCm39)	E1345K	unknown	Het
Sema3e	G	A	5: 14,280,194 (GRCm39)	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,076,426 (GRCm39)	I105V	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc6a5	G	A	7: 49,591,573 (GRCm39)	V513I	probably damaging	Het
Slco4a1	T	A	2: 180,115,907 (GRCm39)	F681Y	possibly damaging	Het
Sp1	A	G	15: 102,339,445 (GRCm39)	N775S	possibly damaging	Het
Sspo	T	A	6: 48,432,605 (GRCm39)	V827D	probably damaging	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tars2	A	T	3: 95,657,728 (GRCm39)	C238S	probably damaging	Het
Tasor2	A	T	13: 3,645,517 (GRCm39)	Y111N	probably damaging	Het
Tnks1bp1	C	A	2: 84,893,178 (GRCm39)	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,045 (GRCm39)	L373P	probably damaging	Het
Unc45b	A	C	11: 82,805,898 (GRCm39)	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,481,677 (GRCm39)	M1L	probably benign	Het
Vmn2r66	T	C	7: 84,657,149 (GRCm39)	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,004,066 (GRCm39)	L93W	probably benign	Het
Vwf	G	T	6: 125,650,850 (GRCm39)		probably benign	Het
Ythdf3	A	G	3: 16,238,086 (GRCm39)	R9G	probably damaging	Het
Zfp229	A	G	17: 21,964,017 (GRCm39)		probably null	Het
Zfp958	A	C	8: 4,675,838 (GRCm39)		probably null	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
R2069:Adgrf4	UTSW	17	42,977,789 (GRCm39)	missense	possibly damaging	0.93
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
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'- GGAGGGACACTGCAATGTTC -3'
(R):5'- GATGACCTCATCCTATCACTGG -3'

Sequencing Primer
(F):5'- ATGTTCACGATGCACACGTG -3'
(R):5'- ATGACCTCATCCTATCACTGGTTTTG -3'

Posted On

2016-11-08