Incidental Mutation 'R4282:Adgra2'
ID 322949
Institutional Source Beutler Lab
Gene Symbol Adgra2
Ensembl Gene ENSMUSG00000031486
Gene Name adhesion G protein-coupled receptor A2
Synonyms Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27575611-27613464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27609272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 616 (M616K)
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: M831K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: M831K

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: M616K

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: M616K

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
SMART Domains Protein: ENSMUSP00000137457
Gene: ENSMUSG00000031486

DomainStartEndE-ValueType
Pfam:GPS 5 49 4.5e-11 PFAM
transmembrane domain 67 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211236
Meta Mutation Damage Score 0.1418 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAGAACGTGTCTTCCTCTTTTCG -3'
(R):5'- ATCTTCAGCGATCTCGGAGC -3'

Sequencing Primer
(F):5'- TCTCCCAGGGGTCTTGAGAC -3'
(R):5'- ATCTCGGAGCTAGCCTGAC -3'
Posted On 2015-06-20