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 D7Ertd680e, Gpr123, 2900059M17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL01068
Quality Score
Status
Chromosome 7
Chromosomal Location 139414090-139458004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139425541 bp (GRCm39)
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: 43,153,599 (GRCm39) probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Atg16l1 C T 1: 87,702,546 (GRCm39) S269L probably damaging Het
Atp8a1 A G 5: 67,824,680 (GRCm39) V853A probably benign Het
Bicral T C 17: 47,136,317 (GRCm39) I298V probably damaging Het
Cad A G 5: 31,219,114 (GRCm39) probably benign Het
Chd9 A T 8: 91,768,744 (GRCm39) Y2448F probably benign Het
Clstn3 A G 6: 124,439,098 (GRCm39) L16S probably damaging Het
Cmtr2 G A 8: 110,949,501 (GRCm39) V604M possibly damaging Het
Ctcf A T 8: 106,408,117 (GRCm39) probably benign Het
Eif2ak2 A G 17: 79,172,800 (GRCm39) I295T probably damaging Het
Foxm1 G A 6: 128,347,930 (GRCm39) R284H possibly damaging Het
Gabra2 T C 5: 71,119,415 (GRCm39) I362M probably benign Het
Hivep1 C A 13: 42,313,460 (GRCm39) P1900Q probably benign Het
Klhl25 G T 7: 75,515,897 (GRCm39) E268* probably null Het
Klk1b16 T C 7: 43,790,102 (GRCm39) L124P probably damaging Het
Ltf A T 9: 110,864,880 (GRCm39) probably null Het
Mpped2 T A 2: 106,695,091 (GRCm39) H248Q probably damaging Het
Mrpl1 T A 5: 96,371,895 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,978,428 (GRCm39) S429R probably damaging Het
Myl2 G A 5: 122,244,767 (GRCm39) V146I probably benign Het
Myo10 T A 15: 25,739,395 (GRCm39) I527N possibly damaging Het
Ncoa3 T C 2: 165,894,715 (GRCm39) S333P probably damaging Het
Or1j4 T G 2: 36,740,282 (GRCm39) S75A probably damaging Het
Or4k47 T G 2: 111,451,685 (GRCm39) T245P probably damaging Het
Oxct1 T C 15: 4,083,246 (GRCm39) F155S probably damaging Het
P4ha1 T C 10: 59,175,157 (GRCm39) V39A probably damaging Het
Padi6 G T 4: 140,458,264 (GRCm39) T514N possibly damaging Het
Pgm2 G A 5: 64,265,139 (GRCm39) V387I probably damaging Het
Ppt1 G A 4: 122,737,800 (GRCm39) C46Y probably damaging Het
Rnf225 T C 7: 12,662,827 (GRCm39) probably benign Het
Rpl26 T C 11: 68,793,224 (GRCm39) Y42H probably benign Het
Rundc1 A G 11: 101,324,968 (GRCm39) N558S probably damaging Het
Sema3e T G 5: 14,283,732 (GRCm39) probably null Het
Slc8a1 T C 17: 81,696,371 (GRCm39) I888V probably benign Het
Thsd7b T C 1: 129,523,883 (GRCm39) C306R probably damaging Het
Tmem209 A C 6: 30,502,085 (GRCm39) L197R probably benign Het
Tmem38b T G 4: 53,849,024 (GRCm39) V119G probably damaging Het
Trpc1 T C 9: 95,608,547 (GRCm39) D82G probably damaging Het
Zfp292 A G 4: 34,806,763 (GRCm39) F2094L probably damaging Het
Zfp638 C T 6: 83,911,976 (GRCm39) R453W probably damaging Het
Other mutations in Adgra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Adgra1 APN 7 139,455,860 (GRCm39) missense probably benign 0.01
IGL01014:Adgra1 APN 7 139,455,577 (GRCm39) missense probably damaging 1.00
IGL01014:Adgra1 APN 7 139,455,576 (GRCm39) missense probably benign 0.05
IGL01095:Adgra1 APN 7 139,425,570 (GRCm39) missense possibly damaging 0.79
IGL02717:Adgra1 APN 7 139,456,094 (GRCm39) missense probably damaging 0.98
adaga UTSW 7 139,455,196 (GRCm39) missense probably damaging 1.00
I2288:Adgra1 UTSW 7 139,432,495 (GRCm39) missense probably damaging 0.98
R0630:Adgra1 UTSW 7 139,432,500 (GRCm39) nonsense probably null
R0653:Adgra1 UTSW 7 139,456,063 (GRCm39) missense probably damaging 0.98
R1388:Adgra1 UTSW 7 139,453,919 (GRCm39) missense probably damaging 0.97
R1462:Adgra1 UTSW 7 139,455,745 (GRCm39) missense probably damaging 1.00
R1462:Adgra1 UTSW 7 139,455,745 (GRCm39) missense probably damaging 1.00
R1667:Adgra1 UTSW 7 139,425,564 (GRCm39) missense possibly damaging 0.95
R1770:Adgra1 UTSW 7 139,453,947 (GRCm39) nonsense probably null
R2083:Adgra1 UTSW 7 139,455,547 (GRCm39) missense probably damaging 0.99
R2967:Adgra1 UTSW 7 139,455,601 (GRCm39) missense possibly damaging 0.68
R3410:Adgra1 UTSW 7 139,427,619 (GRCm39) missense possibly damaging 0.94
R3411:Adgra1 UTSW 7 139,427,619 (GRCm39) missense possibly damaging 0.94
R3687:Adgra1 UTSW 7 139,432,506 (GRCm39) missense probably damaging 1.00
R3804:Adgra1 UTSW 7 139,425,510 (GRCm39) missense probably benign 0.01
R3912:Adgra1 UTSW 7 139,425,630 (GRCm39) critical splice donor site probably null
R4452:Adgra1 UTSW 7 139,432,437 (GRCm39) missense probably benign 0.02
R4466:Adgra1 UTSW 7 139,420,752 (GRCm39) intron probably benign
R4469:Adgra1 UTSW 7 139,455,977 (GRCm39) missense probably damaging 0.96
R4675:Adgra1 UTSW 7 139,456,102 (GRCm39) missense probably damaging 1.00
R4724:Adgra1 UTSW 7 139,455,505 (GRCm39) missense probably benign
R5220:Adgra1 UTSW 7 139,455,512 (GRCm39) missense probably benign 0.06
R5846:Adgra1 UTSW 7 139,455,196 (GRCm39) missense probably damaging 1.00
R5972:Adgra1 UTSW 7 139,425,583 (GRCm39) missense probably damaging 1.00
R6453:Adgra1 UTSW 7 139,455,343 (GRCm39) missense probably benign 0.09
R7242:Adgra1 UTSW 7 139,427,573 (GRCm39) critical splice acceptor site probably null
R7343:Adgra1 UTSW 7 139,456,058 (GRCm39) missense probably damaging 1.00
R7774:Adgra1 UTSW 7 139,427,628 (GRCm39) missense possibly damaging 0.79
R8190:Adgra1 UTSW 7 139,456,034 (GRCm39) missense probably benign
R8355:Adgra1 UTSW 7 139,455,567 (GRCm39) nonsense probably null
R8455:Adgra1 UTSW 7 139,455,567 (GRCm39) nonsense probably null
R8905:Adgra1 UTSW 7 139,455,763 (GRCm39) missense probably damaging 1.00
R9045:Adgra1 UTSW 7 139,432,566 (GRCm39) missense possibly damaging 0.64
R9056:Adgra1 UTSW 7 139,432,492 (GRCm39) missense probably damaging 1.00
R9183:Adgra1 UTSW 7 139,455,716 (GRCm39) missense probably benign 0.24
R9438:Adgra1 UTSW 7 139,432,525 (GRCm39) missense probably benign 0.00
V1662:Adgra1 UTSW 7 139,432,495 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-21