Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00474:Adgrf4'

5159

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00474

Quality Score

Status

Chromosome

Chromosomal Location

42967782-43003175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42986650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 36 (I36M)

Ref Sequence

ENSEMBL: ENSMUSP00000129114 (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: I36M

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024711
Gene: ENSMUSG00000023918
AA Change: I36M

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 damaging
Transcript: ENSMUST00000164524
AA Change: I36M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129114
Gene: ENSMUSG00000023918
AA Change: I36M

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: I36M

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132890
Gene: ENSMUSG00000023918
AA Change: I36M

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: I36M

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133261
Gene: ENSMUSG00000023918
AA Change: I36M

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

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,511,610 (GRCm39)	K730R	possibly damaging	Het
Atp2a1	A	T	7: 126,049,466 (GRCm39)	C525*	probably null	Het
Col11a1	A	C	3: 113,860,182 (GRCm39)	M203L	unknown	Het
Duox2	T	A	2: 122,114,056 (GRCm39)	M1159L	probably benign	Het
Harbi1	T	G	2: 91,542,971 (GRCm39)	V144G	probably damaging	Het
Kcp	A	G	6: 29,482,656 (GRCm39)	V1471A	probably benign	Het
Lrig1	G	T	6: 94,588,385 (GRCm39)	T588K	probably damaging	Het
Lyst	A	G	13: 13,818,121 (GRCm39)	I1264V	possibly damaging	Het
Slc4a11	A	T	2: 130,530,058 (GRCm39)	M240K	probably benign	Het
Vmn1r120	T	A	7: 20,786,935 (GRCm39)	I259F	probably benign	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
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
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

Posted On

2012-04-20