Mutagenetix > Incidental Mutation

Incidental Mutation 'R7502:Adgrf4'

581587

Institutional Source

Beutler Lab

Gene Symbol

Adgrf4

Ensembl Gene

ENSMUSG00000023918

Gene Name

adhesion G protein-coupled receptor F4

Synonyms

4632435A09Rik, Gpr115

MMRRC Submission

045575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42967782-43003175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42980548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 179 (H179R)

Ref Sequence

ENSEMBL: ENSMUSP00000024711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024711] [ENSMUST00000164524] [ENSMUST00000167993] [ENSMUST00000170723]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024711
AA Change: H179R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024711
Gene: ENSMUSG00000023918
AA Change: H179R

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: ENSMUST00000164524

SMART Domains

Protein: ENSMUSP00000129114
Gene: ENSMUSG00000023918

Domain	Start	End	E-Value	Type
SCOP:g1qd6.1	20	44	1e-2	SMART
low complexity region	54	64	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167993
AA Change: H179R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132890
Gene: ENSMUSG00000023918
AA Change: H179R

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: H179R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133261
Gene: ENSMUSG00000023918
AA Change: H179R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,743,951 (GRCm39)	T661A	probably damaging	Het
Actrt2	T	C	4: 154,751,383 (GRCm39)	Y251C	probably benign	Het
Adat3	T	A	10: 80,442,255 (GRCm39)	V31D	probably damaging	Het
Ahcyl1	A	T	3: 107,578,513 (GRCm39)	Y241*	probably null	Het
Anks1	C	A	17: 28,227,114 (GRCm39)	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Cacna1e	A	T	1: 154,344,734 (GRCm39)	M1130K	probably null	Het
Ccdc121rt1	G	A	1: 181,338,443 (GRCm39)	Q170*	probably null	Het
Ceacam18	A	T	7: 43,286,298 (GRCm39)	D57V	probably damaging	Het
Celf1	C	T	2: 90,835,100 (GRCm39)	Q194*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cep170	T	C	1: 176,583,595 (GRCm39)	D163G	probably damaging	Het
Cfap210	A	T	2: 69,606,488 (GRCm39)	D309E	probably benign	Het
Cftr	T	C	6: 18,214,295 (GRCm39)	F157S	probably damaging	Het
Chchd3	T	C	6: 32,945,164 (GRCm39)	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,460,963 (GRCm39)	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,753,075 (GRCm39)	V2266I	probably benign	Het
Ctr9	A	G	7: 110,633,133 (GRCm39)	D127G	probably benign	Het
Ctsl	A	T	13: 64,514,882 (GRCm39)	F141I	probably damaging	Het
Dcpp1	T	A	17: 24,101,615 (GRCm39)	Y121*	probably null	Het
Ddx42	T	C	11: 106,138,565 (GRCm39)	V788A	probably benign	Het
Ehd4	T	C	2: 119,921,874 (GRCm39)	I461V	probably benign	Het
Elp6	C	A	9: 110,134,376 (GRCm39)	L5I	possibly damaging	Het
Faap20	T	C	4: 155,334,793 (GRCm39)	S2P		Het
Fam98b	A	C	2: 117,094,344 (GRCm39)	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655 (GRCm39)	D30E	probably benign	Het
Fcrlb	T	C	1: 170,736,210 (GRCm39)	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,043,671 (GRCm39)	D302G	probably benign	Het
Gzmg	T	G	14: 56,394,284 (GRCm39)	E203D	not run	Het
Hsph1	A	C	5: 149,553,838 (GRCm39)	V210G	probably damaging	Het
Il20rb	A	T	9: 100,350,479 (GRCm39)	M138K	probably damaging	Het
Itpr1	A	T	6: 108,360,639 (GRCm39)	E688D	probably benign	Het
Jmjd1c	T	G	10: 67,067,794 (GRCm39)	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,780,062 (GRCm39)	T371S	possibly damaging	Het
Kif11	T	A	19: 37,398,255 (GRCm39)	S694T	possibly damaging	Het
Kpna7	T	A	5: 144,942,731 (GRCm39)	H85L	probably benign	Het
Lipf	A	T	19: 33,954,006 (GRCm39)	I366F	probably damaging	Het
Lrrc27	A	G	7: 138,794,748 (GRCm39)	H37R	probably benign	Het
Mki67	T	C	7: 135,302,512 (GRCm39)	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,820,210 (GRCm39)	S120P	probably damaging	Het
Nav1	A	G	1: 135,397,404 (GRCm39)	W922R	probably damaging	Het
Nwd1	A	G	8: 73,434,021 (GRCm39)	E1206G	probably damaging	Het
Obscn	T	C	11: 58,885,635 (GRCm39)	S7933G	unknown	Het
Or13j1	T	C	4: 43,706,316 (GRCm39)	H84R	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,010 (GRCm39)	V53A	probably benign	Het
Or2g25	T	A	17: 37,971,122 (GRCm39)	Y34F	probably damaging	Het
Or2k2	T	C	4: 58,785,648 (GRCm39)	I25V	probably benign	Het
Or4c52	T	C	2: 89,845,355 (GRCm39)	L27S	probably benign	Het
Otog	A	T	7: 45,948,039 (GRCm39)	I162F	probably damaging	Het
Paf1	G	A	7: 28,095,293 (GRCm39)	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,889,554 (GRCm39)	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitrm1	G	T	13: 6,610,658 (GRCm39)	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,004,819 (GRCm39)		probably null	Het
Plaat1	T	C	16: 29,046,919 (GRCm39)	V146A	probably benign	Het
Prorp	T	C	12: 55,351,206 (GRCm39)	Y172H	probably damaging	Het
Prrc2a	T	C	17: 35,381,286 (GRCm39)	N61S	unknown	Het
Ror1	T	A	4: 100,190,827 (GRCm39)	D61E	probably benign	Het
Ryr3	G	A	2: 112,542,706 (GRCm39)	P3168S	probably benign	Het
Serinc4	T	A	2: 121,284,250 (GRCm39)	I289F	probably damaging	Het
Sez6l	A	T	5: 112,623,347 (GRCm39)	L68H	possibly damaging	Het
Sez6l2	A	G	7: 126,560,915 (GRCm39)	E460G	probably benign	Het
Sh3tc1	C	T	5: 35,863,406 (GRCm39)	G927D	probably damaging	Het
Slc22a27	G	C	19: 7,903,747 (GRCm39)	T130S	probably damaging	Het
Slc38a8	C	A	8: 120,227,820 (GRCm39)	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,958,134 (GRCm39)	N100D	probably damaging	Het
Slc49a3	G	A	5: 108,591,646 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,894,567 (GRCm39)	F382L	possibly damaging	Het
Sox1	A	G	8: 12,446,913 (GRCm39)	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,991,385 (GRCm39)	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,798,110 (GRCm39)	V1945A	probably benign	Het
St18	T	A	1: 6,898,194 (GRCm39)	N665K	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Syne2	G	A	12: 76,141,100 (GRCm39)	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,393,639 (GRCm39)	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,769,398 (GRCm39)	D71V	probably damaging	Het
Tnn	T	C	1: 159,937,929 (GRCm39)	D1196G	probably benign	Het
Ttll8	A	G	15: 88,817,639 (GRCm39)		probably null	Het
Tubgcp3	A	G	8: 12,691,207 (GRCm39)	F444L	probably damaging	Het
Txndc11	G	A	16: 10,905,742 (GRCm39)	P596L	probably benign	Het
Ubr4	C	T	4: 139,139,983 (GRCm39)	P1189S	possibly damaging	Het
Usp32	T	C	11: 84,913,724 (GRCm39)	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,686,188 (GRCm39)	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,421,761 (GRCm39)	M132I	probably benign	Het
Wnk2	A	T	13: 49,300,720 (GRCm39)		probably null	Het
Xbp1	A	G	11: 5,474,683 (GRCm39)		probably null	Het
Zfp551	A	T	7: 12,149,725 (GRCm39)	Y561*	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
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
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'- TGATCTATGGCCATTGCTTTGTATC -3'
(R):5'- TGAGCTTAATTGGCAATGCAGC -3'

Sequencing Primer
(F):5'- TGGCCATTGCTTTGTATCAAATATC -3'
(R):5'- TGCAGCACCAGTCCATATTGG -3'

Posted On

2019-10-17