Incidental Mutation 'IGL00910:Adgra2'
ID 28003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgra2
Ensembl Gene ENSMUSG00000031486
Gene Name adhesion G protein-coupled receptor A2
Synonyms Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00910
Quality Score
Status
Chromosome 8
Chromosomal Location 27575611-27613464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27576011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 13 (A13E)
Ref Sequence ENSEMBL: ENSMUSP00000033876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033876] [ENSMUST00000178514]
AlphaFold Q91ZV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000033876
AA Change: A13E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: A13E

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
LRR 82 106 1.06e2 SMART
LRR_TYP 107 130 2.71e-2 SMART
LRR_TYP 131 154 1.28e-3 SMART
LRR 155 178 7.38e1 SMART
LRRCT 190 240 4.63e-6 SMART
IG 253 346 3.49e-3 SMART
low complexity region 629 639 N/A INTRINSIC
low complexity region 663 674 N/A INTRINSIC
Pfam:GPS 709 750 1.1e-7 PFAM
Pfam:7tm_2 770 990 5.3e-13 PFAM
transmembrane domain 1016 1038 N/A INTRINSIC
transmembrane domain 1045 1064 N/A INTRINSIC
low complexity region 1075 1095 N/A INTRINSIC
low complexity region 1110 1129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178514
AA Change: A13E

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: A13E

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
LRR 82 106 4.4e-1 SMART
LRR_TYP 107 130 1.1e-4 SMART
LRR_TYP 131 154 5.3e-6 SMART
LRR 155 178 3.1e-1 SMART
LRRCT 190 240 2.2e-8 SMART
IG 253 346 1.4e-5 SMART
HormR 349 426 1.8e-4 SMART
Pfam:7tm_2 554 775 3.2e-11 PFAM
transmembrane domain 801 823 N/A INTRINSIC
transmembrane domain 830 849 N/A INTRINSIC
low complexity region 860 880 N/A INTRINSIC
low complexity region 895 914 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for null mutations display fetal or perinatal lethality with CNS hemorrhage and angiogenic arrest in the CNS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A G 15: 84,840,020 (GRCm39) L109P probably damaging Het
Aacs T A 5: 125,585,772 (GRCm39) M316K probably benign Het
Adarb2 T C 13: 8,722,469 (GRCm39) V375A probably damaging Het
Ankrd34c A T 9: 89,611,079 (GRCm39) S421T probably benign Het
Bpifa6 A T 2: 153,832,386 (GRCm39) M298L probably benign Het
Casq2 T C 3: 102,017,547 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,395 (GRCm39) T762A probably benign Het
Dhx38 A G 8: 110,285,666 (GRCm39) V389A probably benign Het
Dnah7b A T 1: 46,105,889 (GRCm39) probably benign Het
Dnajc7 A T 11: 100,490,017 (GRCm39) F79L possibly damaging Het
Dyrk3 A G 1: 131,064,073 (GRCm39) I3T possibly damaging Het
Fchsd2 T C 7: 100,926,833 (GRCm39) I641T probably benign Het
Furin A G 7: 80,040,744 (GRCm39) V698A probably benign Het
Lratd1 T C 12: 14,200,527 (GRCm39) S67G probably benign Het
Prl2c5 G A 13: 13,364,061 (GRCm39) probably null Het
Ryr3 A T 2: 112,559,279 (GRCm39) probably benign Het
Serpina6 G T 12: 103,618,224 (GRCm39) probably benign Het
Slc6a2 A G 8: 93,722,728 (GRCm39) Y575C probably damaging Het
Trim9 T C 12: 70,393,887 (GRCm39) E19G probably damaging Het
Tsfm G T 10: 126,864,228 (GRCm39) probably benign Het
Other mutations in Adgra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Adgra2 APN 8 27,608,761 (GRCm39) missense possibly damaging 0.67
IGL01627:Adgra2 APN 8 27,608,761 (GRCm39) missense possibly damaging 0.67
IGL01629:Adgra2 APN 8 27,608,761 (GRCm39) missense possibly damaging 0.67
IGL01632:Adgra2 APN 8 27,608,761 (GRCm39) missense possibly damaging 0.67
IGL01968:Adgra2 APN 8 27,611,263 (GRCm39) nonsense probably null
IGL02551:Adgra2 APN 8 27,609,250 (GRCm39) missense probably benign
IGL02820:Adgra2 APN 8 27,607,535 (GRCm39) missense probably damaging 1.00
PIT1430001:Adgra2 UTSW 8 27,604,216 (GRCm39) missense possibly damaging 0.73
R0735:Adgra2 UTSW 8 27,607,346 (GRCm39) missense probably damaging 1.00
R0799:Adgra2 UTSW 8 27,602,523 (GRCm39) missense probably damaging 1.00
R1183:Adgra2 UTSW 8 27,604,416 (GRCm39) missense probably damaging 1.00
R1276:Adgra2 UTSW 8 27,609,852 (GRCm39) missense probably damaging 0.99
R1389:Adgra2 UTSW 8 27,601,116 (GRCm39) missense probably damaging 1.00
R1514:Adgra2 UTSW 8 27,611,306 (GRCm39) nonsense probably null
R1601:Adgra2 UTSW 8 27,600,046 (GRCm39) splice site probably null
R1760:Adgra2 UTSW 8 27,609,795 (GRCm39) missense probably damaging 1.00
R1957:Adgra2 UTSW 8 27,601,196 (GRCm39) missense possibly damaging 0.64
R1977:Adgra2 UTSW 8 27,605,789 (GRCm39) missense possibly damaging 0.80
R2164:Adgra2 UTSW 8 27,604,232 (GRCm39) nonsense probably null
R2181:Adgra2 UTSW 8 27,611,701 (GRCm39) missense probably damaging 0.99
R4282:Adgra2 UTSW 8 27,609,272 (GRCm39) missense possibly damaging 0.54
R4724:Adgra2 UTSW 8 27,588,850 (GRCm39) missense possibly damaging 0.91
R4749:Adgra2 UTSW 8 27,604,225 (GRCm39) missense probably damaging 1.00
R4809:Adgra2 UTSW 8 27,600,507 (GRCm39) nonsense probably null
R5718:Adgra2 UTSW 8 27,603,514 (GRCm39) critical splice donor site probably null
R6025:Adgra2 UTSW 8 27,604,491 (GRCm39) missense probably damaging 0.99
R6078:Adgra2 UTSW 8 27,604,457 (GRCm39) missense probably damaging 1.00
R6079:Adgra2 UTSW 8 27,604,457 (GRCm39) missense probably damaging 1.00
R6138:Adgra2 UTSW 8 27,604,457 (GRCm39) missense probably damaging 1.00
R6140:Adgra2 UTSW 8 27,605,433 (GRCm39) missense probably damaging 1.00
R6232:Adgra2 UTSW 8 27,609,193 (GRCm39) missense probably benign 0.19
R6321:Adgra2 UTSW 8 27,604,190 (GRCm39) missense probably benign 0.02
R6385:Adgra2 UTSW 8 27,608,878 (GRCm39) missense probably damaging 1.00
R6676:Adgra2 UTSW 8 27,601,268 (GRCm39) missense possibly damaging 0.50
R6724:Adgra2 UTSW 8 27,604,210 (GRCm39) missense possibly damaging 0.93
R6862:Adgra2 UTSW 8 27,603,465 (GRCm39) missense probably damaging 0.98
R6862:Adgra2 UTSW 8 27,603,464 (GRCm39) missense probably benign 0.01
R7140:Adgra2 UTSW 8 27,610,929 (GRCm39) critical splice donor site probably null
R7242:Adgra2 UTSW 8 27,612,055 (GRCm39) missense probably damaging 1.00
R7861:Adgra2 UTSW 8 27,604,485 (GRCm39) missense probably damaging 0.98
R7882:Adgra2 UTSW 8 27,607,440 (GRCm39) missense probably benign 0.15
R8069:Adgra2 UTSW 8 27,609,251 (GRCm39) missense probably benign 0.01
R8146:Adgra2 UTSW 8 27,604,202 (GRCm39) missense probably damaging 0.99
R9080:Adgra2 UTSW 8 27,604,529 (GRCm39) missense probably benign 0.02
R9103:Adgra2 UTSW 8 27,603,436 (GRCm39) missense probably damaging 1.00
R9135:Adgra2 UTSW 8 27,610,979 (GRCm39) missense probably damaging 1.00
R9425:Adgra2 UTSW 8 27,576,094 (GRCm39) missense probably benign 0.04
R9473:Adgra2 UTSW 8 27,610,943 (GRCm39) missense probably damaging 0.99
R9643:Adgra2 UTSW 8 27,612,031 (GRCm39) missense possibly damaging 0.48
R9648:Adgra2 UTSW 8 27,609,172 (GRCm39) missense probably damaging 1.00
X0050:Adgra2 UTSW 8 27,603,446 (GRCm39) missense probably benign 0.32
X0062:Adgra2 UTSW 8 27,610,834 (GRCm39) missense possibly damaging 0.47
Posted On 2013-04-17