Incidental Mutation 'R2083:Adgra1'
ID 230149
Institutional Source Beutler Lab
Gene Symbol Adgra1
Ensembl Gene ENSMUSG00000025475
Gene Name adhesion G protein-coupled receptor A1
Synonyms D7Ertd680e, Gpr123, 2900059M17Rik
MMRRC Submission 040088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R2083 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 139414090-139458004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139455547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 392 (S392P)
Ref Sequence ENSEMBL: ENSMUSP00000026548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026548]
AlphaFold Q8C4G9
Predicted Effect probably damaging
Transcript: ENSMUST00000026548
AA Change: S392P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026548
Gene: ENSMUSG00000025475
AA Change: S392P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T A 5: 146,121,681 (GRCm39) M73L possibly damaging Het
AA986860 A T 1: 130,668,806 (GRCm39) I58F probably damaging Het
Acsl3 A T 1: 78,677,528 (GRCm39) K507N probably damaging Het
Adcy3 T C 12: 4,223,512 (GRCm39) Y245H probably damaging Het
Ahnak C T 19: 8,988,921 (GRCm39) P3402S probably damaging Het
Ambra1 T A 2: 91,596,945 (GRCm39) I12N possibly damaging Het
Atp10b A G 11: 43,103,250 (GRCm39) T545A probably benign Het
Atxn2 G T 5: 121,922,069 (GRCm39) A638S probably benign Het
Cd109 T C 9: 78,574,575 (GRCm39) S520P probably damaging Het
Col6a3 T C 1: 90,709,733 (GRCm39) D1821G unknown Het
Cyp4a10 T C 4: 115,382,505 (GRCm39) V265A possibly damaging Het
Dmrtb1 C T 4: 107,540,809 (GRCm39) R184Q possibly damaging Het
Dnah7b A T 1: 46,280,227 (GRCm39) I2719F possibly damaging Het
En2 T C 5: 28,372,071 (GRCm39) S183P probably damaging Het
Etfb A G 7: 43,105,924 (GRCm39) T101A probably benign Het
Etl4 T A 2: 20,748,360 (GRCm39) S364T probably damaging Het
Gm17728 C A 17: 9,641,121 (GRCm39) S77Y possibly damaging Het
Golga4 A G 9: 118,361,658 (GRCm39) E221G probably damaging Het
Gpr37 T C 6: 25,688,416 (GRCm39) N227S possibly damaging Het
Insyn2b A G 11: 34,352,141 (GRCm39) D61G probably benign Het
Kctd1 A T 18: 15,107,112 (GRCm39) N784K possibly damaging Het
Klhl22 A G 16: 17,594,389 (GRCm39) T173A probably benign Het
Ly6e T A 15: 74,830,168 (GRCm39) C41S probably damaging Het
Mapkbp1 T C 2: 119,845,963 (GRCm39) L444P possibly damaging Het
Mkx A T 18: 6,992,855 (GRCm39) I143K probably damaging Het
Mlh3 A G 12: 85,315,815 (GRCm39) F124L probably benign Het
Nlrp1a A T 11: 71,015,046 (GRCm39) L68H possibly damaging Het
Obscn A C 11: 58,964,457 (GRCm39) Y726* probably null Het
Or4f59 C T 2: 111,872,898 (GRCm39) V160I probably benign Het
Or8d1 T G 9: 38,766,637 (GRCm39) V93G probably benign Het
Peak1 G A 9: 56,166,233 (GRCm39) S565L probably damaging Het
Pter T A 2: 12,983,247 (GRCm39) L84Q probably damaging Het
Ptpn4 A G 1: 119,615,489 (GRCm39) L555P possibly damaging Het
Rpp40 A T 13: 36,082,975 (GRCm39) M171K probably benign Het
Sacs A G 14: 61,443,955 (GRCm39) I2000M possibly damaging Het
Scn5a T C 9: 119,321,189 (GRCm39) I1458V probably benign Het
Slc38a4 T C 15: 96,906,874 (GRCm39) D288G probably benign Het
Slc8a2 T G 7: 15,868,440 (GRCm39) V224G probably damaging Het
Sptbn4 T C 7: 27,127,681 (GRCm39) E173G probably benign Het
Tas1r1 T A 4: 152,112,848 (GRCm39) H735L probably benign Het
Trps1 G T 15: 50,685,701 (GRCm39) Q155K probably damaging Het
Tspyl5 T C 15: 33,686,892 (GRCm39) H351R probably damaging Het
Ttf2 A T 3: 100,876,817 (GRCm39) D21E probably benign Het
Ttll7 A G 3: 146,635,859 (GRCm39) R398G possibly damaging Het
Tubgcp6 A T 15: 89,006,579 (GRCm39) Y148N probably damaging Het
Vmn1r8 T A 6: 57,013,325 (GRCm39) H125Q probably benign Het
Zfhx4 A G 3: 5,468,223 (GRCm39) T2794A possibly damaging Het
Zfp27 T C 7: 29,594,208 (GRCm39) I586V probably benign Het
Zfyve16 T C 13: 92,660,770 (GRCm39) D13G 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
IGL01068:Adgra1 APN 7 139,425,541 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TTATCCATCACTGCGCCAAG -3'
(R):5'- GTAAGCATACTCCCTCTCAGCC -3'

Sequencing Primer
(F):5'- AGGACGTGTGGCAGTGC -3'
(R):5'- TCCCTCTCAGCCGCAGC -3'
Posted On 2014-09-18