Incidental Mutation 'R9135:Adgra2'
ID 693934
Institutional Source Beutler Lab
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 # R9135 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 27575611-27613464 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27610979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 976 (L976P)
Ref Sequence ENSEMBL: ENSMUSP00000033876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033876] [ENSMUST00000033877] [ENSMUST00000178514] [ENSMUST00000179351] [ENSMUST00000210552] [ENSMUST00000211151]
AlphaFold Q91ZV8
Predicted Effect probably damaging
Transcript: ENSMUST00000033876
AA Change: L976P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: L976P

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 probably damaging
Transcript: ENSMUST00000178514
AA Change: L761P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: L761P

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: ENSMUST00000210552
Predicted Effect probably benign
Transcript: ENSMUST00000211151
Predicted Effect probably benign
Transcript: ENSMUST00000211236
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Abi3bp A G 16: 56,417,173 (GRCm39) D419G probably benign Het
Acoxl A T 2: 127,696,691 (GRCm39) probably benign Het
Acvr1 T C 2: 58,352,983 (GRCm39) T326A possibly damaging Het
Adora2b A G 11: 62,155,886 (GRCm39) probably null Het
Ak1 A T 2: 32,521,182 (GRCm39) Q117L probably damaging Het
Akr1c14 T A 13: 4,128,029 (GRCm39) D143E probably damaging Het
Ap4e1 A T 2: 126,861,242 (GRCm39) H127L probably damaging Het
Asxl3 T A 18: 22,649,670 (GRCm39) I553N probably damaging Het
Asxl3 T A 18: 22,657,481 (GRCm39) N1830K possibly damaging Het
Atp11a G A 8: 12,863,144 (GRCm39) A108T probably damaging Het
Bag6 A G 17: 35,362,437 (GRCm39) T582A unknown Het
Bbs9 T C 9: 22,490,005 (GRCm39) S259P probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bltp3a T A 17: 28,104,902 (GRCm39) L532* probably null Het
Blvrb T C 7: 27,165,210 (GRCm39) S177P probably damaging Het
C1s2 T A 6: 124,602,642 (GRCm39) D523V probably benign Het
Cacna2d1 C T 5: 16,558,850 (GRCm39) T736I probably damaging Het
Card9 T C 2: 26,242,397 (GRCm39) N513S probably benign Het
Casp2 A G 6: 42,245,882 (GRCm39) T180A probably benign Het
Cenpf A T 1: 189,404,746 (GRCm39) L361Q probably damaging Het
Cnbd2 T C 2: 156,217,488 (GRCm39) I659T probably damaging Het
Cped1 A T 6: 21,987,012 (GRCm39) D68V probably damaging Het
Cxcr1 T C 1: 74,231,099 (GRCm39) I308V probably benign Het
Dad1 A G 14: 54,491,163 (GRCm39) L46P probably damaging Het
Defb23 G A 2: 152,301,422 (GRCm39) A50V probably benign Het
Dhx33 C T 11: 70,877,992 (GRCm39) A684T probably damaging Het
Dnai3 T C 3: 145,772,589 (GRCm39) T486A probably benign Het
Epb41l4a T A 18: 33,965,729 (GRCm39) N366I probably benign Het
Erich3 A G 3: 154,467,912 (GRCm39) E788G Het
Fam241b T C 10: 61,944,892 (GRCm39) N35S probably benign Het
Fbxo24 T A 5: 137,622,526 (GRCm39) Q80L probably benign Het
Foxk1 T G 5: 142,434,497 (GRCm39) F254V probably benign Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm12886 T C 4: 121,274,743 (GRCm39) I46V probably benign Het
Gm20834 G T Y: 10,323,354 (GRCm39) H27Q probably damaging Het
Gm2888 A G 14: 3,032,106 (GRCm38) N138S probably damaging Het
Gm5773 T C 3: 93,681,179 (GRCm39) C284R possibly damaging Het
Gprin3 A T 6: 59,330,273 (GRCm39) M678K probably benign Het
Grm7 T C 6: 111,472,729 (GRCm39) V856A probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Immt C T 6: 71,851,403 (GRCm39) T588I probably damaging Het
Ints1 G C 5: 139,737,701 (GRCm39) N2145K possibly damaging Het
Jade2 T C 11: 51,715,951 (GRCm39) D418G probably benign Het
Kdf1 T C 4: 133,256,140 (GRCm39) Y286H probably damaging Het
Kif18a A G 2: 109,171,506 (GRCm39) Y861C possibly damaging Het
Lama2 T A 10: 27,298,515 (GRCm39) I194F probably damaging Het
Lhx8 A G 3: 154,034,063 (GRCm39) S33P probably benign Het
Lmo7 T C 14: 102,118,297 (GRCm39) I174T probably damaging Het
Lrfn2 A T 17: 49,376,976 (GRCm39) D19V possibly damaging Het
Lrrk1 A T 7: 65,928,357 (GRCm39) I1257N probably damaging Het
Malrd1 T A 2: 15,802,516 (GRCm39) H1076Q unknown Het
Map3k14 A C 11: 103,128,364 (GRCm39) M419R probably damaging Het
Mcm10 G A 2: 5,011,372 (GRCm39) R200C probably benign Het
Mertk A G 2: 128,604,035 (GRCm39) N390D probably benign Het
Mitf T A 6: 97,990,680 (GRCm39) I361N probably damaging Het
Mrgprb1 T A 7: 48,097,046 (GRCm39) I289F possibly damaging Het
Muc5ac A T 7: 141,352,218 (GRCm39) D659V probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nphp3 T G 9: 103,909,214 (GRCm39) L808R probably damaging Het
Or14c42-ps1 G A 7: 86,211,156 (GRCm39) C72Y unknown Het
Or1e1 T C 11: 73,245,316 (GRCm39) S246P probably damaging Het
Or5an1 T A 19: 12,260,808 (GRCm39) L132Q probably damaging Het
Or5b113 T A 19: 13,342,755 (GRCm39) S254R possibly damaging Het
Pagr1a T C 7: 126,615,954 (GRCm39) E47G probably benign Het
Papss2 G T 19: 32,618,764 (GRCm39) R274L probably damaging Het
Pcdhga10 C A 18: 37,880,960 (GRCm39) F240L probably damaging Het
Pcsk5 T G 19: 17,563,472 (GRCm39) E555A Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pgrmc2 T A 3: 41,023,099 (GRCm39) D206V probably damaging Het
Pkd1 T C 17: 24,790,976 (GRCm39) V1057A Het
Plekha5 T C 6: 140,480,239 (GRCm39) I113T probably damaging Het
Prorp T A 12: 55,426,189 (GRCm39) L513Q probably damaging Het
Prss32 C T 17: 24,078,199 (GRCm39) T295I possibly damaging Het
Ptprk G T 10: 28,456,413 (GRCm39) V1072F probably damaging Het
Rasd2 T A 8: 75,945,174 (GRCm39) M1K probably null Het
Rhag T A 17: 41,139,302 (GRCm39) M79K probably damaging Het
Rnf19a C A 15: 36,253,310 (GRCm39) probably null Het
Rnf213 G T 11: 119,299,573 (GRCm39) G101C Het
Sap130 T A 18: 31,780,116 (GRCm39) D45E probably benign Het
Scel T A 14: 103,839,626 (GRCm39) F510I probably benign Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Shoc2 T A 19: 53,976,310 (GRCm39) S67T probably benign Het
Slc22a3 T C 17: 12,645,619 (GRCm39) I441V possibly damaging Het
Slfn5 A G 11: 82,851,503 (GRCm39) D600G probably benign Het
Smim7 G A 8: 73,324,757 (GRCm39) T10M probably damaging Het
Sntb2 A T 8: 107,662,831 (GRCm39) Q133L possibly damaging Het
Steap3 A C 1: 120,162,048 (GRCm39) M408R probably benign Het
Supt4a T C 11: 87,633,624 (GRCm39) I60T probably benign Het
Swt1 A C 1: 151,244,239 (GRCm39) C899G possibly damaging Het
Taok3 A G 5: 117,344,744 (GRCm39) E157G probably damaging Het
Taok3 C T 5: 117,379,245 (GRCm39) L427F possibly damaging Het
Taok3 T C 5: 117,379,168 (GRCm39) V401A probably benign Het
Tcf25 A G 8: 124,108,182 (GRCm39) E79G probably benign Het
Tigit G A 16: 43,479,876 (GRCm39) L140F possibly damaging Het
Tmem143 G T 7: 45,546,802 (GRCm39) probably benign Het
Tmem151b C T 17: 45,856,355 (GRCm39) V362M possibly damaging Het
Tmem230 A G 2: 132,085,989 (GRCm39) F58L probably benign Het
Trim25 T C 11: 88,899,988 (GRCm39) M245T probably benign Het
Trim36 A C 18: 46,302,410 (GRCm39) V546G probably benign Het
Triml1 T C 8: 43,583,624 (GRCm39) N326D probably damaging Het
Trp53bp2 T C 1: 182,286,328 (GRCm39) V1056A probably damaging Het
Trpa1 C A 1: 14,952,435 (GRCm39) M865I probably damaging Het
Ttbk1 A T 17: 46,790,132 (GRCm39) Y104* probably null Het
Tubg1 T A 11: 101,014,257 (GRCm39) H139Q probably damaging Het
Ufsp2 A G 8: 46,447,050 (GRCm39) probably null Het
Usp47 A T 7: 111,652,431 (GRCm39) N36I probably benign Het
Vmn1r32 G A 6: 66,530,120 (GRCm39) R219* probably null Het
Vmn2r59 G A 7: 41,693,125 (GRCm39) P492S probably benign Het
Vmn2r59 G C 7: 41,693,127 (GRCm39) A491G Het
Wdr76 T C 2: 121,364,592 (GRCm39) Y299H probably damaging Het
Wnt5a C T 14: 28,240,309 (GRCm39) A153V probably benign Het
Zfp202 T C 9: 40,120,237 (GRCm39) V226A possibly damaging Het
Zfp219 C T 14: 52,244,598 (GRCm39) R527H probably damaging Het
Zfp408 A T 2: 91,475,528 (GRCm39) L542H probably damaging Het
Zfyve9 A T 4: 108,539,386 (GRCm39) C271* probably null 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
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
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'- TCATTAACCACCCAGCCTGTG -3'
(R):5'- GACATCTCTACGTCTGGCAC -3'

Sequencing Primer
(F):5'- AGGGCGCTCTCCAAACTC -3'
(R):5'- AGCTACACACCACTCGGGG -3'
Posted On 2022-01-20