Incidental Mutation 'IGL00340:Adgre5'
ID 5008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adgre5
Ensembl Gene ENSMUSG00000002885
Gene Name adhesion G protein-coupled receptor E5
Synonyms EGF-TM7 receptor, Cd97
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00340
Quality Score
Status
Chromosome 8
Chromosomal Location 84449874-84467812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84455030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 221 (M221L)
Ref Sequence ENSEMBL: ENSMUSP00000128220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002964] [ENSMUST00000075843] [ENSMUST00000109802] [ENSMUST00000166939] [ENSMUST00000212949] [ENSMUST00000172396]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002964
AA Change: M223L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: M223L

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: M317L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: M317L

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: M272L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: M272L

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: ENSMUST00000139797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154075
Predicted Effect probably benign
Transcript: ENSMUST00000166939
AA Change: M221L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: M221L

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 noncoding transcript
Transcript: ENSMUST00000184114
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
Coding Region Coverage
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 G A 5: 89,849,525 (GRCm39) H632Y probably damaging Het
Apba2 A T 7: 64,386,689 (GRCm39) I439F possibly damaging Het
Arid1b C A 17: 5,371,559 (GRCm39) N632K probably damaging Het
Bcas3 A T 11: 85,256,417 (GRCm39) I60L probably damaging Het
Brd9 T C 13: 74,086,666 (GRCm39) S56P probably damaging Het
Ccdc57 T A 11: 120,751,295 (GRCm39) D925V possibly damaging Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Cdhr3 T C 12: 33,102,208 (GRCm39) T410A probably benign Het
Cimap3 A G 3: 105,921,824 (GRCm39) V33A probably benign Het
Ddx60 G T 8: 62,411,680 (GRCm39) D511Y probably damaging Het
Drc7 C A 8: 95,782,629 (GRCm39) probably benign Het
Dysf A G 6: 84,118,933 (GRCm39) E1290G probably benign Het
Fam168b T C 1: 34,875,883 (GRCm39) M1V probably null Het
Farsa A G 8: 85,590,886 (GRCm39) K208R probably damaging Het
Fnip2 A G 3: 79,425,368 (GRCm39) probably benign Het
Gm17535 A T 9: 3,035,111 (GRCm39) H170L probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gm5852 T C 3: 93,634,501 (GRCm39) noncoding transcript Het
Gnb2 T C 5: 137,528,968 (GRCm39) probably benign Het
Gpr158 A G 2: 21,373,494 (GRCm39) N143S probably damaging Het
Hcn1 C A 13: 117,739,513 (GRCm39) Q92K unknown Het
Helb T C 10: 119,934,150 (GRCm39) I678V possibly damaging Het
Hnrnpl C A 7: 28,512,798 (GRCm39) A118D probably damaging Het
Klhl14 G A 18: 21,784,921 (GRCm39) P169S probably benign Het
Kndc1 T C 7: 139,481,904 (GRCm39) probably benign Het
Lmod2 A G 6: 24,598,051 (GRCm39) E57G probably damaging Het
Lrch4 T C 5: 137,636,009 (GRCm39) I300T possibly damaging Het
Lrp6 A G 6: 134,433,053 (GRCm39) V1426A probably benign Het
Lrrc39 A G 3: 116,364,630 (GRCm39) probably benign Het
Mamstr G A 7: 45,293,709 (GRCm39) V262I probably benign Het
Mob1b A T 5: 88,904,014 (GRCm39) T217S probably benign Het
Mocs3 G A 2: 168,073,411 (GRCm39) R286H possibly damaging Het
Mpo A T 11: 87,693,443 (GRCm39) Q27L probably benign Het
Ncdn A T 4: 126,640,981 (GRCm39) D506E probably benign Het
Noxa1 A G 2: 24,984,914 (GRCm39) I8T probably benign Het
Oma1 G T 4: 103,176,565 (GRCm39) A110S probably benign Het
Or10a48 C T 7: 108,424,280 (GRCm39) V309I probably benign Het
Or13a18 T A 7: 140,190,666 (GRCm39) S196T probably damaging Het
Or8b4 A G 9: 37,830,346 (GRCm39) Y131C probably damaging Het
Pde4a A C 9: 21,122,357 (GRCm39) K694T probably benign Het
Phc1 A G 6: 122,299,958 (GRCm39) probably benign Het
Pias1 A G 9: 62,830,578 (GRCm39) V187A probably damaging Het
Pigf C A 17: 87,327,876 (GRCm39) L130F probably null Het
Pkd1 G T 17: 24,799,069 (GRCm39) V2763L probably damaging Het
Potefam1 G T 2: 111,051,107 (GRCm39) L230I probably damaging Het
Ppp1r8 T C 4: 132,561,992 (GRCm39) Y76C probably damaging Het
Ppp6r3 C A 19: 3,568,324 (GRCm39) G158V probably damaging Het
Ptpn13 A G 5: 103,698,924 (GRCm39) I1136V probably damaging Het
Ptprq T C 10: 107,412,790 (GRCm39) I1770V probably damaging Het
Rhpn2 A T 7: 35,070,185 (GRCm39) I148F probably damaging Het
Stard3 T C 11: 98,268,285 (GRCm39) Y239H probably damaging Het
Stau1 T C 2: 166,792,729 (GRCm39) Y412C probably benign Het
Sucnr1 A G 3: 59,994,053 (GRCm39) I194V probably benign Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Tmem126a T C 7: 90,101,963 (GRCm39) T79A probably benign Het
Trav9-2 A T 14: 53,828,840 (GRCm39) Y70F probably benign Het
Tspear A G 10: 77,709,070 (GRCm39) E432G probably benign Het
Ube2o T C 11: 116,435,580 (GRCm39) R403G probably benign Het
Unc80 C A 1: 66,645,618 (GRCm39) S1431R possibly damaging Het
Usp24 G A 4: 106,258,336 (GRCm39) C1578Y probably damaging Het
Vsig10 A T 5: 117,489,652 (GRCm39) M473L probably benign Het
Xpot T A 10: 121,441,549 (GRCm39) M559L probably benign Het
Other mutations in Adgre5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20