Incidental Mutation 'R0522:Adgre5'
ID 48641
Institutional Source Beutler Lab
Gene Symbol Adgre5
Ensembl Gene ENSMUSG00000002885
Gene Name adhesion G protein-coupled receptor E5
Synonyms EGF-TM7 receptor, Cd97
MMRRC Submission 038715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0522 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84449874-84467812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84456805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 192 (I192T)
Ref Sequence ENSEMBL: ENSMUSP00000075240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002964] [ENSMUST00000075843] [ENSMUST00000109802] [ENSMUST00000149368] [ENSMUST00000212949] [ENSMUST00000172396] [ENSMUST00000166939]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002964
SMART Domains Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885

DomainStartEndE-ValueType
EGF 30 68 1.63e1 SMART
EGF_CA 69 119 5.92e-8 SMART
EGF_CA 120 167 1.78e-11 SMART
GPS 384 430 2.18e-8 SMART
Pfam:Dicty_CAR 431 703 1.3e-8 PFAM
Pfam:7tm_2 432 672 8.1e-68 PFAM
low complexity region 704 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075843
AA Change: I192T

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: I192T

DomainStartEndE-ValueType
EGF 30 68 1.63e1 SMART
EGF_CA 69 119 5.92e-8 SMART
EGF_CA 165 213 1.38e-8 SMART
EGF_CA 214 261 1.78e-11 SMART
GPS 478 524 2.18e-8 SMART
Pfam:Dicty_CAR 525 798 4.6e-8 PFAM
Pfam:7tm_2 526 766 5.3e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109802
AA Change: I147T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: I147T

DomainStartEndE-ValueType
EGF 30 68 1.63e1 SMART
EGF_CA 69 119 5.92e-8 SMART
EGF_CA 120 168 1.38e-8 SMART
EGF_CA 169 216 1.78e-11 SMART
GPS 433 479 2.18e-8 SMART
Pfam:Dicty_CAR 480 752 5.3e-8 PFAM
Pfam:7tm_2 481 721 7.5e-67 PFAM
low complexity region 753 763 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140606
Predicted Effect probably benign
Transcript: ENSMUST00000149368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154075
Predicted Effect probably benign
Transcript: ENSMUST00000212949
Predicted Effect probably benign
Transcript: ENSMUST00000172396
SMART Domains Protein: ENSMUSP00000132222
Gene: ENSMUSG00000005481

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
DEXDc 63 264 4.06e-54 SMART
HELICc 300 381 9.09e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166939
SMART Domains Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EGF 28 66 1.63e1 SMART
EGF_CA 67 117 5.92e-8 SMART
EGF_CA 118 165 1.78e-11 SMART
GPS 382 428 2.18e-8 SMART
Pfam:Dicty_CAR 429 701 2.1e-7 PFAM
Pfam:7tm_2 430 670 1.7e-66 PFAM
low complexity region 702 712 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype apart from mild granulocytosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,874,648 (GRCm39) Y982H possibly damaging Het
Adgrv1 T A 13: 81,676,561 (GRCm39) probably benign Het
Alms1 T C 6: 85,598,597 (GRCm39) V1610A probably benign Het
Ankrd24 T C 10: 81,472,189 (GRCm39) probably benign Het
C2cd3 A G 7: 100,044,429 (GRCm39) N337S probably benign Het
Cdc40 T C 10: 40,733,608 (GRCm39) Y114C probably benign Het
Cdhr1 A T 14: 36,815,957 (GRCm39) probably null Het
Cfc1 G A 1: 34,576,234 (GRCm39) C98Y probably damaging Het
Cyp11b2 A T 15: 74,723,533 (GRCm39) probably benign Het
Cyth4 C A 15: 78,499,985 (GRCm39) H255Q possibly damaging Het
Degs1l A C 1: 180,887,312 (GRCm39) D299A probably damaging Het
Dip2a T C 10: 76,157,365 (GRCm39) K80R probably benign Het
Dnajb5 G T 4: 42,957,083 (GRCm39) D257Y probably damaging Het
Dynll1 T C 5: 115,438,565 (GRCm39) probably benign Het
Edn1 T A 13: 42,458,430 (GRCm39) V81E probably damaging Het
F5 T C 1: 164,039,332 (GRCm39) S1981P probably damaging Het
Fam186b T A 15: 99,178,400 (GRCm39) M309L probably benign Het
Gm14221 G A 2: 160,416,597 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,267,328 (GRCm39) probably benign Het
Golgb1 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 16: 36,735,567 (GRCm39) probably null Het
Gpr176 A G 2: 118,114,493 (GRCm39) C106R probably damaging Het
Hdac7 A T 15: 97,704,560 (GRCm39) probably null Het
Hlx T C 1: 184,463,837 (GRCm39) S168G probably damaging Het
Hnf1a G T 5: 115,088,747 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,949,472 (GRCm39) L19F possibly damaging Het
Hspa14 T A 2: 3,512,086 (GRCm39) T63S probably damaging Het
Insrr C T 3: 87,708,179 (GRCm39) S207F probably damaging Het
Jak3 C A 8: 72,134,918 (GRCm39) probably benign Het
Jmjd7 G A 2: 119,860,822 (GRCm39) A91T probably damaging Het
Lgals9 G T 11: 78,856,638 (GRCm39) H265Q possibly damaging Het
Lrriq1 T G 10: 102,997,638 (GRCm39) N1326H probably damaging Het
Mdn1 C A 4: 32,672,837 (GRCm39) Q486K probably benign Het
Mpeg1 A G 19: 12,439,123 (GRCm39) T194A probably damaging Het
Nek5 T A 8: 22,578,813 (GRCm39) probably benign Het
Pcgf2 A C 11: 97,582,873 (GRCm39) I135M probably benign Het
Phactr1 G T 13: 43,213,067 (GRCm39) A222S probably benign Het
Pla2r1 T C 2: 60,309,859 (GRCm39) S575G probably benign Het
Plcg2 T C 8: 118,341,027 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Polg A G 7: 79,109,899 (GRCm39) probably benign Het
Poteg T G 8: 27,939,986 (GRCm39) L48V possibly damaging Het
Prmt1 A T 7: 44,631,203 (GRCm39) C50S probably benign Het
Prx T A 7: 27,217,620 (GRCm39) V707E probably damaging Het
Rrp12 C T 19: 41,863,144 (GRCm39) probably benign Het
Saxo1 A T 4: 86,363,340 (GRCm39) V381E probably damaging Het
Sh2d2a T C 3: 87,754,416 (GRCm39) probably null Het
Slc26a5 A C 5: 22,051,343 (GRCm39) I57R probably damaging Het
Slc38a3 T A 9: 107,532,412 (GRCm39) probably null Het
Slc5a4b T C 10: 75,926,534 (GRCm39) T188A probably damaging Het
Slc7a13 A G 4: 19,824,010 (GRCm39) I260V probably benign Het
Smg8 A T 11: 86,977,288 (GRCm39) S98T probably benign Het
Spart T A 3: 55,035,786 (GRCm39) S548R probably damaging Het
Sult6b1 C T 17: 79,212,958 (GRCm39) G98S probably damaging Het
Tbc1d2 A G 4: 46,649,806 (GRCm39) Y77H probably damaging Het
Tet2 T A 3: 133,172,565 (GRCm39) D1899V probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Uap1l1 T C 2: 25,253,289 (GRCm39) E382G probably damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Ugt1a9 T C 1: 87,999,114 (GRCm39) V188A probably damaging Het
Virma T C 4: 11,519,416 (GRCm39) probably null Het
Xrcc6 T C 15: 81,906,793 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zfp804b T A 5: 6,822,014 (GRCm39) T350S probably benign Het
Zfp959 G T 17: 56,203,201 (GRCm39) R61M probably null Het
Other mutations in Adgre5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Adgre5 APN 8 84,455,030 (GRCm39) missense probably benign 0.01
IGL01365:Adgre5 APN 8 84,450,518 (GRCm39) splice site probably null
IGL01661:Adgre5 APN 8 84,454,564 (GRCm39) missense probably damaging 0.99
IGL01707:Adgre5 APN 8 84,450,976 (GRCm39) missense probably damaging 1.00
IGL01760:Adgre5 APN 8 84,458,586 (GRCm39) missense probably benign 0.02
IGL02207:Adgre5 APN 8 84,454,913 (GRCm39) missense probably damaging 1.00
IGL02483:Adgre5 APN 8 84,451,882 (GRCm39) missense probably damaging 1.00
IGL03194:Adgre5 APN 8 84,460,647 (GRCm39) missense possibly damaging 0.67
BB001:Adgre5 UTSW 8 84,456,029 (GRCm39) missense possibly damaging 0.85
BB011:Adgre5 UTSW 8 84,456,029 (GRCm39) missense possibly damaging 0.85
PIT4453001:Adgre5 UTSW 8 84,451,089 (GRCm39) missense probably benign 0.08
R0024:Adgre5 UTSW 8 84,454,913 (GRCm39) missense probably damaging 1.00
R0137:Adgre5 UTSW 8 84,451,527 (GRCm39) missense probably damaging 1.00
R0257:Adgre5 UTSW 8 84,458,624 (GRCm39) missense possibly damaging 0.54
R0485:Adgre5 UTSW 8 84,458,627 (GRCm39) missense probably damaging 0.99
R0940:Adgre5 UTSW 8 84,460,126 (GRCm39) missense probably damaging 1.00
R1372:Adgre5 UTSW 8 84,454,949 (GRCm39) missense probably damaging 0.96
R1617:Adgre5 UTSW 8 84,456,806 (GRCm39) missense possibly damaging 0.50
R1679:Adgre5 UTSW 8 84,456,034 (GRCm39) missense probably benign 0.09
R1917:Adgre5 UTSW 8 84,455,738 (GRCm39) missense probably damaging 0.99
R1918:Adgre5 UTSW 8 84,455,738 (GRCm39) missense probably damaging 0.99
R2072:Adgre5 UTSW 8 84,454,433 (GRCm39) missense probably benign 0.24
R2831:Adgre5 UTSW 8 84,455,023 (GRCm39) missense possibly damaging 0.80
R5250:Adgre5 UTSW 8 84,460,069 (GRCm39) missense probably benign
R5512:Adgre5 UTSW 8 84,455,715 (GRCm39) missense probably benign
R6077:Adgre5 UTSW 8 84,454,595 (GRCm39) missense probably benign
R7486:Adgre5 UTSW 8 84,450,515 (GRCm39) missense probably damaging 1.00
R7733:Adgre5 UTSW 8 84,456,025 (GRCm39) missense probably benign 0.06
R7924:Adgre5 UTSW 8 84,456,029 (GRCm39) missense possibly damaging 0.85
R8388:Adgre5 UTSW 8 84,456,815 (GRCm39) missense probably damaging 1.00
R9138:Adgre5 UTSW 8 84,452,563 (GRCm39) missense probably benign 0.29
R9625:Adgre5 UTSW 8 84,450,658 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAAGTCCTGGCCTAACAGAGCCC -3'
(R):5'- GCGTCACATCCTGTCCTGAGAAAG -3'

Sequencing Primer
(F):5'- tctgcctgcctctgctg -3'
(R):5'- AATTGGGACCCCTGATCCTTG -3'
Posted On 2013-06-12