Incidental Mutation 'IGL02229:Adgrg1'
ID 285436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgrg1
Ensembl Gene ENSMUSG00000031785
Gene Name adhesion G protein-coupled receptor G1
Synonyms Cyt28, Gpr56
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # IGL02229
Quality Score
Status
Chromosome 8
Chromosomal Location 95701379-95740845 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95730139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 114 (D114Y)
Ref Sequence ENSEMBL: ENSMUSP00000148439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093271] [ENSMUST00000179619] [ENSMUST00000211944] [ENSMUST00000212531] [ENSMUST00000212799] [ENSMUST00000212141] [ENSMUST00000212976] [ENSMUST00000212956] [ENSMUST00000211984] [ENSMUST00000212118] [ENSMUST00000212660] [ENSMUST00000212581] [ENSMUST00000212995]
AlphaFold Q8K209
Predicted Effect probably damaging
Transcript: ENSMUST00000093271
AA Change: D109Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785
AA Change: D109Y

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 probably damaging
Transcript: ENSMUST00000179619
AA Change: D109Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785
AA Change: D109Y

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 damaging
Transcript: ENSMUST00000212531
AA Change: D109Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212799
AA Change: D109Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212141
AA Change: D109Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212976
AA Change: D114Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212956
AA Change: D109Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211984
AA Change: D109Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212118
AA Change: D109Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212660
AA Change: D109Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212581
Predicted Effect probably benign
Transcript: ENSMUST00000212995
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign 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
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
R1155:Adgrg1 UTSW 8 95,733,468 (GRCm39) missense possibly damaging 0.92
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
Posted On 2015-04-16