Incidental Mutation 'IGL00425:Adgrf4'
ID 5160
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 # IGL00425
Quality Score
Status
Chromosome 17
Chromosomal Location 42967782-43003175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42977547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 599 (S599P)
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 damaging
Transcript: ENSMUST00000024711
AA Change: S599P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024711
Gene: ENSMUSG00000023918
AA Change: S599P

DomainStartEndE-ValueType
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: ENSMUST00000167993
AA Change: S599P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132890
Gene: ENSMUSG00000023918
AA Change: S599P

DomainStartEndE-ValueType
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: ENSMUST00000170723
AA Change: S599P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133261
Gene: ENSMUSG00000023918
AA Change: S599P

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 C T 14: 66,311,498 (GRCm39) probably null Het
Adgrb2 A T 4: 129,912,865 (GRCm39) H1373L probably benign Het
Atp9b G A 18: 80,961,103 (GRCm39) probably benign Het
Baiap2 A G 11: 119,872,836 (GRCm39) T125A probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Cacna2d2 T C 9: 107,404,550 (GRCm39) S1114P probably damaging Het
Ccdc159 T C 9: 21,840,765 (GRCm39) S111P possibly damaging Het
Cd177 T A 7: 24,459,176 (GRCm39) T78S possibly damaging Het
Cdk5rap2 A G 4: 70,321,709 (GRCm39) probably null Het
Cdkl3 C A 11: 51,920,683 (GRCm39) T462K probably benign Het
Chid1 A C 7: 141,102,609 (GRCm39) L208R probably damaging Het
Clca3b A G 3: 144,542,342 (GRCm39) S487P probably benign Het
Col6a3 A T 1: 90,709,748 (GRCm39) L1816Q unknown Het
Dido1 A G 2: 180,325,782 (GRCm39) S469P probably benign Het
Dsg2 A G 18: 20,734,826 (GRCm39) N935D probably benign Het
Fbxw2 A G 2: 34,702,961 (GRCm39) I184T probably benign Het
Gbp9 T C 5: 105,253,620 (GRCm39) I32V possibly damaging Het
Hycc2 A T 1: 58,579,412 (GRCm39) probably benign Het
Itgb8 G A 12: 119,153,561 (GRCm39) T318I probably damaging Het
Kcnb2 A G 1: 15,781,236 (GRCm39) S703G probably benign Het
Kif26b A T 1: 178,743,866 (GRCm39) S1321C probably damaging Het
Klb A G 5: 65,529,717 (GRCm39) N415S possibly damaging Het
Megf10 C A 18: 57,373,700 (GRCm39) A166D probably damaging Het
Mrm3 T G 11: 76,135,319 (GRCm39) S177A probably damaging Het
Nav3 A G 10: 109,539,368 (GRCm39) F2011S probably benign Het
Nipal1 C T 5: 72,816,067 (GRCm39) S30L probably benign Het
Ogdhl T C 14: 32,068,447 (GRCm39) Y895H probably damaging Het
Pif1 A G 9: 65,500,559 (GRCm39) N495D probably damaging Het
Prrc2c A T 1: 162,548,182 (GRCm39) probably null Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 (GRCm39) D40G probably benign Het
Serhl A T 15: 82,989,838 (GRCm39) D192V possibly damaging Het
Slc12a5 C T 2: 164,825,201 (GRCm39) A461V probably damaging Het
Tomm34 A T 2: 163,900,582 (GRCm39) probably benign Het
Zfp54 A G 17: 21,650,559 (GRCm39) N45D probably damaging Het
Other mutations in Adgrf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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