Incidental Mutation 'IGL01068:Adgra1'
ID 51441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgra1
Ensembl Gene ENSMUSG00000025475
Gene Name adhesion G protein-coupled receptor A1
Synonyms Gpr123, D7Ertd680e, 2900059M17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01068
Quality Score
Status
Chromosome 7
Chromosomal Location 139834174-139878088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139845625 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 18 (E18G)
Ref Sequence ENSEMBL: ENSMUSP00000026548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026548]
AlphaFold Q8C4G9
Predicted Effect probably damaging
Transcript: ENSMUST00000026548
AA Change: E18G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: E18G

DomainStartEndE-ValueType
Pfam:7tm_2 19 307 1.4e-16 PFAM
low complexity region 407 419 N/A INTRINSIC
low complexity region 423 434 N/A INTRINSIC
low complexity region 469 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137584
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 protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mrpl1 T A 5: 96,224,036 probably benign Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
Oxct1 T C 15: 4,053,764 F155S probably damaging Het
P4ha1 T C 10: 59,339,335 V39A probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Ppt1 G A 4: 122,844,007 C46Y probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rpl26 T C 11: 68,902,398 Y42H probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Tmem38b T G 4: 53,849,024 V119G probably damaging Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in Adgra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Adgra1 APN 7 139875944 missense probably benign 0.01
IGL01014:Adgra1 APN 7 139875660 missense probably benign 0.05
IGL01014:Adgra1 APN 7 139875661 missense probably damaging 1.00
IGL01095:Adgra1 APN 7 139845654 missense possibly damaging 0.79
IGL02717:Adgra1 APN 7 139876178 missense probably damaging 0.98
adaga UTSW 7 139875280 missense probably damaging 1.00
I2288:Adgra1 UTSW 7 139852579 missense probably damaging 0.98
R0630:Adgra1 UTSW 7 139852584 nonsense probably null
R0653:Adgra1 UTSW 7 139876147 missense probably damaging 0.98
R1388:Adgra1 UTSW 7 139874003 missense probably damaging 0.97
R1462:Adgra1 UTSW 7 139875829 missense probably damaging 1.00
R1462:Adgra1 UTSW 7 139875829 missense probably damaging 1.00
R1667:Adgra1 UTSW 7 139845648 missense possibly damaging 0.95
R1770:Adgra1 UTSW 7 139874031 nonsense probably null
R2083:Adgra1 UTSW 7 139875631 missense probably damaging 0.99
R2967:Adgra1 UTSW 7 139875685 missense possibly damaging 0.68
R3410:Adgra1 UTSW 7 139847703 missense possibly damaging 0.94
R3411:Adgra1 UTSW 7 139847703 missense possibly damaging 0.94
R3687:Adgra1 UTSW 7 139852590 missense probably damaging 1.00
R3804:Adgra1 UTSW 7 139845594 missense probably benign 0.01
R3912:Adgra1 UTSW 7 139845714 critical splice donor site probably null
R4452:Adgra1 UTSW 7 139852521 missense probably benign 0.02
R4466:Adgra1 UTSW 7 139840836 intron probably benign
R4469:Adgra1 UTSW 7 139876061 missense probably damaging 0.96
R4675:Adgra1 UTSW 7 139876186 missense probably damaging 1.00
R4724:Adgra1 UTSW 7 139875589 missense probably benign
R5220:Adgra1 UTSW 7 139875596 missense probably benign 0.06
R5846:Adgra1 UTSW 7 139875280 missense probably damaging 1.00
R5972:Adgra1 UTSW 7 139845667 missense probably damaging 1.00
R6453:Adgra1 UTSW 7 139875427 missense probably benign 0.09
R7242:Adgra1 UTSW 7 139847657 critical splice acceptor site probably null
R7343:Adgra1 UTSW 7 139876142 missense probably damaging 1.00
R7774:Adgra1 UTSW 7 139847712 missense possibly damaging 0.79
R8190:Adgra1 UTSW 7 139876118 missense probably benign
R8355:Adgra1 UTSW 7 139875651 nonsense probably null
R8455:Adgra1 UTSW 7 139875651 nonsense probably null
R8905:Adgra1 UTSW 7 139875847 missense probably damaging 1.00
R9045:Adgra1 UTSW 7 139852650 missense possibly damaging 0.64
R9056:Adgra1 UTSW 7 139852576 missense probably damaging 1.00
R9183:Adgra1 UTSW 7 139875800 missense probably benign 0.24
R9438:Adgra1 UTSW 7 139852609 missense probably benign 0.00
V1662:Adgra1 UTSW 7 139852579 missense probably damaging 0.98
Posted On 2013-06-21