Incidental Mutation 'R1155:Adgrg1'
ID 101661
Institutional Source Beutler Lab
Gene Symbol Adgrg1
Ensembl Gene ENSMUSG00000031785
Gene Name adhesion G protein-coupled receptor G1
Synonyms Cyt28, Gpr56
MMRRC Submission 039228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R1155 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95701379-95740845 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95733468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 307 (V307I)
Ref Sequence ENSEMBL: ENSMUSP00000148644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093271] [ENSMUST00000179619] [ENSMUST00000211944] [ENSMUST00000211984] [ENSMUST00000212660] [ENSMUST00000212976] [ENSMUST00000212118] [ENSMUST00000212799] [ENSMUST00000212141] [ENSMUST00000212956] [ENSMUST00000212995] [ENSMUST00000212531] [ENSMUST00000212581]
AlphaFold Q8K209
Predicted Effect possibly damaging
Transcript: ENSMUST00000093271
AA Change: V307I

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785
AA Change: V307I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
GPS 342 394 1.42e-12 SMART
Pfam:7tm_2 400 648 8.1e-32 PFAM
low complexity region 678 685 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179619
AA Change: V307I

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785
AA Change: V307I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
GPS 342 394 1.42e-12 SMART
Pfam:7tm_2 400 648 3.4e-31 PFAM
low complexity region 678 685 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211911
Predicted Effect probably benign
Transcript: ENSMUST00000211944
Predicted Effect probably benign
Transcript: ENSMUST00000211984
Predicted Effect possibly damaging
Transcript: ENSMUST00000212660
AA Change: V307I

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000212976
Predicted Effect probably benign
Transcript: ENSMUST00000212118
Predicted Effect probably benign
Transcript: ENSMUST00000212799
Predicted Effect probably benign
Transcript: ENSMUST00000212141
Predicted Effect probably benign
Transcript: ENSMUST00000212956
Predicted Effect probably benign
Transcript: ENSMUST00000212995
Predicted Effect probably benign
Transcript: ENSMUST00000212531
Predicted Effect probably benign
Transcript: ENSMUST00000212581
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit neuronal ectopias in the frontoparietal cortex due to disruptions in the pial basement membrane. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,270 (GRCm39) E121G possibly damaging Het
Abtb3 A T 10: 85,465,155 (GRCm39) H665L probably damaging Het
Cilp A G 9: 65,176,869 (GRCm39) T42A probably benign Het
Col6a3 T A 1: 90,722,047 (GRCm39) K1493M probably null Het
Col6a6 A G 9: 105,659,289 (GRCm39) V552A possibly damaging Het
Cradd T C 10: 95,158,586 (GRCm39) T54A probably benign Het
Elfn2 A G 15: 78,557,344 (GRCm39) I401T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Hoxc6 A G 15: 102,919,279 (GRCm39) I172V probably damaging Het
Knl1 T C 2: 118,901,635 (GRCm39) L1112P possibly damaging Het
Lipo4 T A 19: 33,480,595 (GRCm39) I258F probably benign Het
Morf4l1 A G 9: 89,976,557 (GRCm39) V257A probably benign Het
Or51a8 A T 7: 102,549,819 (GRCm39) M82L probably benign Het
Rnpepl1 T A 1: 92,844,609 (GRCm39) M367K probably damaging Het
Robo2 A G 16: 73,831,996 (GRCm39) L228P probably damaging Het
Samd9l T A 6: 3,376,939 (GRCm39) E107D probably benign Het
Shc1 A G 3: 89,332,126 (GRCm39) I194V probably benign Het
Slc25a46 A G 18: 31,716,668 (GRCm39) I278T probably benign Het
Tmem178 T A 17: 81,308,429 (GRCm39) C275S possibly damaging Het
Tpsg1 A T 17: 25,592,768 (GRCm39) Q40L possibly damaging Het
Trank1 A G 9: 111,196,038 (GRCm39) E1354G possibly damaging Het
Vit T C 17: 78,873,456 (GRCm39) I44T probably damaging Het
Vstm5 T C 9: 15,168,849 (GRCm39) S138P probably damaging Het
Other mutations in Adgrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Adgrg1 APN 8 95,731,871 (GRCm39) missense probably damaging 1.00
IGL01138:Adgrg1 APN 8 95,730,085 (GRCm39) missense probably damaging 1.00
IGL01806:Adgrg1 APN 8 95,739,559 (GRCm39) missense probably damaging 1.00
IGL02229:Adgrg1 APN 8 95,730,139 (GRCm39) missense probably damaging 1.00
IGL03109:Adgrg1 APN 8 95,734,304 (GRCm39) unclassified probably benign
D4043:Adgrg1 UTSW 8 95,731,857 (GRCm39) splice site probably null
R0383:Adgrg1 UTSW 8 95,738,370 (GRCm39) missense probably damaging 1.00
R1656:Adgrg1 UTSW 8 95,738,438 (GRCm39) nonsense probably null
R1944:Adgrg1 UTSW 8 95,733,928 (GRCm39) missense probably damaging 0.99
R1952:Adgrg1 UTSW 8 95,735,119 (GRCm39) critical splice donor site probably null
R2408:Adgrg1 UTSW 8 95,730,121 (GRCm39) missense probably null 1.00
R3776:Adgrg1 UTSW 8 95,736,283 (GRCm39) missense probably damaging 0.99
R3813:Adgrg1 UTSW 8 95,738,193 (GRCm39) missense probably benign 0.34
R4254:Adgrg1 UTSW 8 95,732,530 (GRCm39) splice site probably null
R4255:Adgrg1 UTSW 8 95,732,530 (GRCm39) splice site probably null
R4951:Adgrg1 UTSW 8 95,731,874 (GRCm39) missense probably damaging 1.00
R4997:Adgrg1 UTSW 8 95,736,148 (GRCm39) missense probably damaging 1.00
R5152:Adgrg1 UTSW 8 95,736,373 (GRCm39) missense probably damaging 1.00
R6122:Adgrg1 UTSW 8 95,729,129 (GRCm39) missense probably benign 0.45
R6897:Adgrg1 UTSW 8 95,729,126 (GRCm39) missense probably benign
R7446:Adgrg1 UTSW 8 95,738,412 (GRCm39) missense probably damaging 1.00
R7736:Adgrg1 UTSW 8 95,731,965 (GRCm39) missense probably benign
R7784:Adgrg1 UTSW 8 95,739,510 (GRCm39) nonsense probably null
R8187:Adgrg1 UTSW 8 95,732,446 (GRCm39) missense probably benign 0.01
R8425:Adgrg1 UTSW 8 95,735,035 (GRCm39) missense probably damaging 1.00
R8474:Adgrg1 UTSW 8 95,729,936 (GRCm39) missense probably damaging 1.00
R8674:Adgrg1 UTSW 8 95,727,526 (GRCm39) intron probably benign
R8683:Adgrg1 UTSW 8 95,736,276 (GRCm39) missense probably damaging 1.00
Z1177:Adgrg1 UTSW 8 95,734,258 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15