Incidental Mutation 'R7733:Adgre5'
ID 595999
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 045789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7733 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84449874-84467812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84456025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 257 (D257G)
Ref Sequence ENSEMBL: ENSMUSP00000075240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002964] [ENSMUST00000075843] [ENSMUST00000109802] [ENSMUST00000149368] [ENSMUST00000166939] [ENSMUST00000172396] [ENSMUST00000212949]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002964
AA Change: D163G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: D163G

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: D257G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: D257G

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: D212G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: D212G

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 probably benign
Transcript: ENSMUST00000149368
Predicted Effect probably benign
Transcript: ENSMUST00000166939
AA Change: D161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: D161G

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
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: ENSMUST00000212949
Meta Mutation Damage Score 0.1116 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (83/83)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T A 6: 133,271,240 (GRCm39) S95T probably benign Het
Abca8a A G 11: 109,945,413 (GRCm39) F1070L probably benign Het
Acsl3 G C 1: 78,665,953 (GRCm39) probably null Het
Adarb2 T A 13: 8,802,644 (GRCm39) S640T possibly damaging Het
Adora2b A T 11: 62,156,165 (GRCm39) I205F possibly damaging Het
Asb14 A G 14: 26,634,309 (GRCm39) M505V probably benign Het
Atrnl1 T C 19: 57,690,420 (GRCm39) V876A probably benign Het
AU040320 A G 4: 126,729,322 (GRCm39) N495D possibly damaging Het
Bcam A T 7: 19,494,313 (GRCm39) V361E probably benign Het
Ccdc7a T A 8: 129,719,533 (GRCm39) E247V probably damaging Het
Cd84 T A 1: 171,668,226 (GRCm39) M1K probably null Het
Cfap43 C T 19: 47,886,432 (GRCm39) R61H possibly damaging Het
Clec4a1 A G 6: 122,909,109 (GRCm39) D159G possibly damaging Het
Ctcfl C T 2: 172,958,985 (GRCm39) R247Q probably benign Het
Ctdnep1 G A 11: 69,880,835 (GRCm39) R236Q probably damaging Het
Cwf19l2 A T 9: 3,450,066 (GRCm39) H589L probably benign Het
Cyp2u1 G T 3: 131,096,676 (GRCm39) A34E probably benign Het
Cyp4x1 A G 4: 114,977,391 (GRCm39) S281P possibly damaging Het
Dag1 T C 9: 108,086,047 (GRCm39) T365A probably benign Het
Dhx57 A T 17: 80,572,503 (GRCm39) probably null Het
Dnajb1 T G 8: 84,335,006 (GRCm39) S16A probably benign Het
Dsc2 A T 18: 20,181,372 (GRCm39) L145Q probably benign Het
Dsc2 G C 18: 20,181,373 (GRCm39) L145V probably benign Het
Eefsec T C 6: 88,353,202 (GRCm39) T156A possibly damaging Het
Eif6 T A 2: 155,665,152 (GRCm39) D169V probably benign Het
Ell3 C A 2: 121,273,001 (GRCm39) G3V possibly damaging Het
Eprs1 A T 1: 185,129,358 (GRCm39) H615L probably benign Het
Fbxw10 A G 11: 62,764,223 (GRCm39) Y630C unknown Het
Fcgbpl1 A T 7: 27,839,390 (GRCm39) D401V probably damaging Het
G6pc2 C T 2: 69,050,527 (GRCm39) Q51* probably null Het
Glt8d1 C T 14: 30,723,935 (GRCm39) probably benign Het
Gpr4 T C 7: 18,956,635 (GRCm39) Y186H probably damaging Het
Grhpr T C 4: 44,981,494 (GRCm39) probably benign Het
Gsdma3 A G 11: 98,526,041 (GRCm39) H264R probably damaging Het
Hcfc2 A G 10: 82,575,013 (GRCm39) Y224C probably benign Het
Helz2 A G 2: 180,872,148 (GRCm39) F2608S possibly damaging Het
Herc2 C T 7: 55,838,412 (GRCm39) T3313M probably damaging Het
Hmgcl A T 4: 135,687,394 (GRCm39) H223L probably benign Het
Igf2r A G 17: 12,958,256 (GRCm39) V139A possibly damaging Het
Iqcn A G 8: 71,170,100 (GRCm39) T1397A possibly damaging Het
Kif5a T A 10: 127,072,609 (GRCm39) T727S probably benign Het
Kifc1 G A 17: 34,102,543 (GRCm39) R357W probably damaging Het
Krt81 T A 15: 101,361,395 (GRCm39) S62C probably damaging Het
Lgi2 T C 5: 52,695,873 (GRCm39) N362S probably benign Het
Lig1 G T 7: 13,030,157 (GRCm39) R378L possibly damaging Het
Map3k13 C T 16: 21,740,436 (GRCm39) R588C probably damaging Het
Mov10l1 T A 15: 88,909,004 (GRCm39) F1008L probably damaging Het
Nr4a2 A G 2: 57,002,333 (GRCm39) V40A probably benign Het
Nrde2 A T 12: 100,110,399 (GRCm39) C206S possibly damaging Het
Or4f14d C T 2: 111,960,386 (GRCm39) V257I probably benign Het
Parp1 T C 1: 180,427,777 (GRCm39) probably null Het
Pcdhb12 A G 18: 37,570,089 (GRCm39) T412A probably damaging Het
Plekhh2 T A 17: 84,890,952 (GRCm39) Y839* probably null Het
Pnpla6 T A 8: 3,572,660 (GRCm39) F316I probably benign Het
Prcp C T 7: 92,550,506 (GRCm39) T101M probably damaging Het
Prex2 G T 1: 11,252,183 (GRCm39) R1076L probably benign Het
Prpf40b T C 15: 99,206,224 (GRCm39) probably null Het
Psd3 T G 8: 68,573,568 (GRCm39) K204N possibly damaging Het
Ptpro C A 6: 137,391,284 (GRCm39) C801* probably null Het
Ptprt A G 2: 161,417,707 (GRCm39) V923A probably damaging Het
Ptprz1 T A 6: 23,000,383 (GRCm39) D824E probably benign Het
Rasgrf1 A G 9: 89,863,780 (GRCm39) D582G probably benign Het
Rfc2 T C 5: 134,622,070 (GRCm39) L183P probably damaging Het
Rnf114 T C 2: 167,354,438 (GRCm39) V173A probably damaging Het
Scn3a T A 2: 65,338,994 (GRCm39) I562F probably benign Het
Setmar T C 6: 108,053,088 (GRCm39) I194T probably damaging Het
Sptb A T 12: 76,644,695 (GRCm39) probably null Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Sptlc3 G T 2: 139,473,288 (GRCm39) M512I possibly damaging Het
Svep1 C A 4: 58,049,239 (GRCm39) A3423S probably benign Het
Sycp1 T C 3: 102,803,278 (GRCm39) T511A probably benign Het
Synm T A 7: 67,385,693 (GRCm39) probably null Het
Tada1 C T 1: 166,217,511 (GRCm39) P216L probably damaging Het
Tas2r117 T A 6: 132,780,138 (GRCm39) M92K probably benign Het
Thoc2l T C 5: 104,667,826 (GRCm39) F783L possibly damaging Het
Thsd1 T C 8: 22,748,737 (GRCm39) L536P probably damaging Het
Timp2 T G 11: 118,208,355 (GRCm39) probably null Het
Trak1 T A 9: 121,196,291 (GRCm39) V41D possibly damaging Het
Ubqln3 T A 7: 103,790,283 (GRCm39) L602F probably damaging Het
Vmn2r59 A G 7: 41,661,443 (GRCm39) F791L probably benign Het
Wbp4 A G 14: 79,714,480 (GRCm39) probably null Het
Zng1 T C 19: 24,918,158 (GRCm39) D204G probably damaging 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
R0522:Adgre5 UTSW 8 84,456,805 (GRCm39) missense probably benign 0.30
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
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'- ACCTCCTGGTATTCACTGGC -3'
(R):5'- TCCTGTACCACTGAATGAGGCC -3'

Sequencing Primer
(F):5'- TGGCTACTCACCTGACTGTGG -3'
(R):5'- TACCTCAGGCCAGAGACTGTAG -3'
Posted On 2019-11-12