Incidental Mutation 'IGL01632:Adgra2'
ID 278754
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 # IGL01632
Quality Score
Status
Chromosome 8
Chromosomal Location 27575611-27613464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27608761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 540 (A540T)
Ref Sequence ENSEMBL: ENSMUSP00000136277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033876] [ENSMUST00000033877] [ENSMUST00000178514] [ENSMUST00000179351]
AlphaFold Q91ZV8
Predicted Effect probably benign
Transcript: ENSMUST00000033876
AA Change: A755T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: A755T

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: ENSMUST00000033877
SMART Domains Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487

DomainStartEndE-ValueType
Pfam:TF_Zn_Ribbon 6 42 5.7e-11 PFAM
SCOP:d1aisb1 73 167 1e-12 SMART
Blast:CYCLIN 74 158 2e-51 BLAST
Blast:CYCLIN 171 275 6e-61 BLAST
low complexity region 322 336 N/A INTRINSIC
low complexity region 355 367 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178514
AA Change: A540T

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: A540T

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
Predicted Effect probably benign
Transcript: ENSMUST00000179207
Predicted Effect probably benign
Transcript: ENSMUST00000179351
AA Change: A53T

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137457
Gene: ENSMUSG00000031486
AA Change: A53T

DomainStartEndE-ValueType
Pfam:GPS 5 49 4.5e-11 PFAM
transmembrane domain 67 89 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,604,928 (GRCm39) C1724S probably benign Het
Anapc10 T C 8: 80,439,795 (GRCm39) M1T probably null Het
Antxrl A G 14: 33,789,904 (GRCm39) N332S probably damaging Het
Cdkl3 A G 11: 51,895,899 (GRCm39) R49G probably damaging Het
Chodl A G 16: 78,741,452 (GRCm39) probably benign Het
Clca3a1 G T 3: 144,733,202 (GRCm39) A102D probably damaging Het
Clip1 T C 5: 123,755,559 (GRCm39) E1029G probably damaging Het
Cpeb2 T A 5: 43,394,765 (GRCm39) I581N probably benign Het
Dmxl1 T C 18: 49,996,092 (GRCm39) V406A probably damaging Het
Dnah17 C T 11: 117,924,707 (GRCm39) R3960Q probably damaging Het
Fstl5 A G 3: 76,615,135 (GRCm39) D732G probably benign Het
Fyb2 G T 4: 104,853,008 (GRCm39) V499L probably benign Het
Gm43191 A T 3: 116,445,116 (GRCm39) H39Q probably damaging Het
Hspg2 A G 4: 137,242,084 (GRCm39) K606R probably damaging Het
Klk1b27 C T 7: 43,706,097 (GRCm39) probably benign Het
Mdga2 T C 12: 66,676,672 (GRCm39) probably benign Het
Mup14 A T 4: 61,259,383 (GRCm39) F56L probably benign Het
Myh15 A G 16: 48,881,874 (GRCm39) K39E probably benign Het
Or1j10 A T 2: 36,267,576 (GRCm39) N263Y probably benign Het
Or5m12 A G 2: 85,734,714 (GRCm39) I228T probably benign Het
Ppp1r3a T A 6: 14,754,810 (GRCm39) I146F probably damaging Het
Ryr2 A G 13: 11,609,854 (GRCm39) I759T probably damaging Het
Sfmbt1 T C 14: 30,539,669 (GRCm39) I819T probably damaging Het
Siglec1 A G 2: 130,925,740 (GRCm39) V322A probably benign Het
Spata3 T C 1: 85,950,030 (GRCm39) V87A possibly damaging Het
Tacstd2 A G 6: 67,511,783 (GRCm39) V303A possibly damaging Het
Taok3 T A 5: 117,403,993 (GRCm39) F723I possibly damaging Het
Tektl1 T C 10: 78,584,536 (GRCm39) S329G probably benign Het
Vmn1r210 A T 13: 23,011,366 (GRCm39) *307R probably null Het
Vmn2r70 T C 7: 85,215,280 (GRCm39) I85V probably benign Het
Zfp384 T C 6: 125,001,724 (GRCm39) I123T probably damaging Het
Other mutations in Adgra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Adgra2 APN 8 27,576,011 (GRCm39) missense possibly damaging 0.81
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
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 2015-04-16