Incidental Mutation 'R5856:Adgrf5'
ID 454931
Institutional Source Beutler Lab
Gene Symbol Adgrf5
Ensembl Gene ENSMUSG00000056492
Gene Name adhesion G protein-coupled receptor F5
Synonyms 8430401C09Rik, Gpr116
MMRRC Submission 043230-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5856 (G1)
Quality Score 209
Status Not validated
Chromosome 17
Chromosomal Location 43671342-43770448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43757011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 497 (T497A)
Ref Sequence ENSEMBL: ENSMUSP00000153373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113599] [ENSMUST00000225004] [ENSMUST00000225962] [ENSMUST00000226087]
AlphaFold G5E8Q8
Predicted Effect probably benign
Transcript: ENSMUST00000113599
AA Change: T702A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: T702A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:EGF 118 161 8e-14 BLAST
Pfam:SEA 165 263 9.2e-14 PFAM
IG 276 366 1.54e-4 SMART
Blast:IG_like 374 464 2e-31 BLAST
IG 475 561 1.04e-1 SMART
low complexity region 815 823 N/A INTRINSIC
GPS 949 1004 6.49e-16 SMART
Pfam:7tm_2 1011 1264 1.2e-35 PFAM
low complexity region 1328 1347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225004
Predicted Effect probably benign
Transcript: ENSMUST00000225962
AA Change: T497A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000226087
AA Change: T702A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased body weight and respiratory distress associated with pulmonary alveolar proteinosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Ano5 T C 7: 51,235,074 (GRCm39) I669T probably benign Het
Arhgap11a A T 2: 113,664,116 (GRCm39) N722K possibly damaging Het
Atm A T 9: 53,407,255 (GRCm39) I1161K possibly damaging Het
Atp13a4 T C 16: 29,252,805 (GRCm39) T714A possibly damaging Het
BC051665 T A 13: 60,932,314 (GRCm39) M92L probably benign Het
Car3 G A 3: 14,936,701 (GRCm39) V255M probably damaging Het
Cnot11 C A 1: 39,576,534 (GRCm39) F179L probably benign Het
Dctn1 A G 6: 83,174,847 (GRCm39) Y1013C probably damaging Het
Gm19965 A G 1: 116,749,579 (GRCm39) D420G probably benign Het
Gm5444 A G 13: 4,821,683 (GRCm39) noncoding transcript Het
Hydin A T 8: 111,268,474 (GRCm39) D2946V probably damaging Het
Hyou1 C T 9: 44,292,641 (GRCm39) R119C probably damaging Het
Ighm A T 12: 113,385,222 (GRCm39) L246Q unknown Het
Itpr3 A G 17: 27,325,379 (GRCm39) E1324G probably damaging Het
Loxl4 G T 19: 42,583,805 (GRCm39) Q749K possibly damaging Het
Muc2 C A 7: 141,299,381 (GRCm39) probably benign Het
Myh11 T C 16: 14,023,840 (GRCm39) T1505A probably benign Het
Nsmce2 A G 15: 59,250,792 (GRCm39) E21G probably damaging Het
Or13c3 T A 4: 52,856,516 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,254 (GRCm39) I6F probably benign Het
Plaa A G 4: 94,471,724 (GRCm39) I375T probably benign Het
Pou2f1 C T 1: 165,742,699 (GRCm39) A65T probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rxfp1 T A 3: 79,570,620 (GRCm39) N271Y possibly damaging Het
Sema5b T G 16: 35,466,756 (GRCm39) Y219* probably null Het
Slc35f3 G T 8: 127,047,819 (GRCm39) R53L probably benign Het
Slc44a5 T C 3: 153,964,029 (GRCm39) V465A possibly damaging Het
Slc9a5 A G 8: 106,083,797 (GRCm39) I446V possibly damaging Het
Slf1 A T 13: 77,254,206 (GRCm39) D204E possibly damaging Het
Sox5 T A 6: 144,155,088 (GRCm39) T3S probably damaging Het
Srr G A 11: 74,803,838 (GRCm39) R40C possibly damaging Het
Tas2r115 T A 6: 132,714,501 (GRCm39) H150L possibly damaging Het
Tet2 A G 3: 133,192,401 (GRCm39) S678P probably benign Het
Tmem11 T C 11: 60,755,684 (GRCm39) K183E probably damaging Het
Upf1 T C 8: 70,787,412 (GRCm39) probably null Het
Xpo6 A T 7: 125,748,674 (GRCm39) probably benign Het
Zfp638 C T 6: 83,954,047 (GRCm39) S1384L probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Adgrf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Adgrf5 APN 17 43,760,806 (GRCm39) missense possibly damaging 0.79
IGL00590:Adgrf5 APN 17 43,764,038 (GRCm39) missense probably damaging 1.00
IGL01128:Adgrf5 APN 17 43,733,400 (GRCm39) missense possibly damaging 0.95
IGL01131:Adgrf5 APN 17 43,733,400 (GRCm39) missense possibly damaging 0.95
IGL01132:Adgrf5 APN 17 43,733,400 (GRCm39) missense possibly damaging 0.95
IGL01392:Adgrf5 APN 17 43,760,903 (GRCm39) missense probably benign 0.00
IGL01475:Adgrf5 APN 17 43,761,245 (GRCm39) missense probably benign 0.00
IGL01614:Adgrf5 APN 17 43,735,362 (GRCm39) missense possibly damaging 0.53
IGL01654:Adgrf5 APN 17 43,762,061 (GRCm39) missense possibly damaging 0.89
IGL02053:Adgrf5 APN 17 43,761,058 (GRCm39) missense possibly damaging 0.47
IGL02175:Adgrf5 APN 17 43,761,901 (GRCm39) missense probably damaging 1.00
IGL02416:Adgrf5 APN 17 43,755,871 (GRCm39) splice site probably null
IGL02525:Adgrf5 APN 17 43,760,854 (GRCm39) missense probably damaging 1.00
IGL03035:Adgrf5 APN 17 43,741,518 (GRCm39) missense possibly damaging 0.80
duct_tape UTSW 17 43,756,006 (GRCm39) missense probably benign 0.04
Flypaper UTSW 17 43,733,552 (GRCm39) splice site probably benign
goop UTSW 17 43,752,860 (GRCm39) missense probably damaging 0.99
Heaped UTSW 17 43,757,927 (GRCm39) missense possibly damaging 0.93
la_brea UTSW 17 43,763,214 (GRCm39) critical splice donor site probably null
Motel UTSW 17 43,761,271 (GRCm39) missense probably damaging 1.00
noel UTSW 17 43,741,503 (GRCm39) missense probably damaging 1.00
Schmutzfinger UTSW 17 43,735,709 (GRCm39) nonsense probably null
sticky UTSW 17 43,748,462 (GRCm39) missense probably damaging 0.98
sweetie UTSW 17 43,761,874 (GRCm39) missense probably damaging 0.96
PIT4812001:Adgrf5 UTSW 17 43,761,260 (GRCm39) missense probably damaging 1.00
R0699:Adgrf5 UTSW 17 43,733,552 (GRCm39) splice site probably null
R0972:Adgrf5 UTSW 17 43,761,874 (GRCm39) missense probably damaging 0.96
R1521:Adgrf5 UTSW 17 43,741,443 (GRCm39) missense probably benign 0.03
R1523:Adgrf5 UTSW 17 43,761,044 (GRCm39) missense probably benign 0.00
R1758:Adgrf5 UTSW 17 43,735,484 (GRCm39) critical splice donor site probably null
R1767:Adgrf5 UTSW 17 43,761,455 (GRCm39) missense possibly damaging 0.87
R1799:Adgrf5 UTSW 17 43,750,958 (GRCm39) missense probably damaging 0.98
R1800:Adgrf5 UTSW 17 43,761,973 (GRCm39) missense probably damaging 1.00
R1888:Adgrf5 UTSW 17 43,737,896 (GRCm39) splice site probably null
R1888:Adgrf5 UTSW 17 43,737,896 (GRCm39) splice site probably null
R2057:Adgrf5 UTSW 17 43,739,477 (GRCm39) missense possibly damaging 0.88
R2058:Adgrf5 UTSW 17 43,739,477 (GRCm39) missense possibly damaging 0.88
R2059:Adgrf5 UTSW 17 43,739,477 (GRCm39) missense possibly damaging 0.88
R2410:Adgrf5 UTSW 17 43,766,157 (GRCm39) missense probably benign 0.11
R2568:Adgrf5 UTSW 17 43,748,562 (GRCm39) missense probably damaging 1.00
R2847:Adgrf5 UTSW 17 43,733,531 (GRCm39) missense possibly damaging 0.69
R2848:Adgrf5 UTSW 17 43,733,531 (GRCm39) missense possibly damaging 0.69
R3800:Adgrf5 UTSW 17 43,757,951 (GRCm39) splice site probably benign
R3856:Adgrf5 UTSW 17 43,757,927 (GRCm39) missense possibly damaging 0.93
R4021:Adgrf5 UTSW 17 43,741,605 (GRCm39) splice site probably benign
R4075:Adgrf5 UTSW 17 43,761,086 (GRCm39) missense probably damaging 1.00
R4366:Adgrf5 UTSW 17 43,752,860 (GRCm39) missense probably damaging 0.99
R4409:Adgrf5 UTSW 17 43,752,738 (GRCm39) missense probably damaging 1.00
R4570:Adgrf5 UTSW 17 43,756,006 (GRCm39) missense probably benign 0.04
R4616:Adgrf5 UTSW 17 43,763,331 (GRCm39) missense probably benign 0.38
R4623:Adgrf5 UTSW 17 43,761,874 (GRCm39) missense probably benign 0.16
R4645:Adgrf5 UTSW 17 43,748,416 (GRCm39) missense probably damaging 1.00
R5211:Adgrf5 UTSW 17 43,733,511 (GRCm39) missense probably benign 0.32
R5268:Adgrf5 UTSW 17 43,761,890 (GRCm39) missense probably damaging 1.00
R5280:Adgrf5 UTSW 17 43,737,225 (GRCm39) missense probably damaging 1.00
R5326:Adgrf5 UTSW 17 43,750,965 (GRCm39) missense probably damaging 0.98
R5762:Adgrf5 UTSW 17 43,741,586 (GRCm39) missense probably null 0.16
R6007:Adgrf5 UTSW 17 43,748,462 (GRCm39) missense probably damaging 0.98
R6153:Adgrf5 UTSW 17 43,761,974 (GRCm39) missense possibly damaging 0.96
R6451:Adgrf5 UTSW 17 43,735,709 (GRCm39) nonsense probably null
R6535:Adgrf5 UTSW 17 43,750,920 (GRCm39) missense probably benign 0.05
R6536:Adgrf5 UTSW 17 43,733,552 (GRCm39) splice site probably benign
R6602:Adgrf5 UTSW 17 43,761,195 (GRCm39) missense probably benign 0.32
R6882:Adgrf5 UTSW 17 43,761,271 (GRCm39) missense probably damaging 1.00
R6992:Adgrf5 UTSW 17 43,763,214 (GRCm39) critical splice donor site probably null
R7137:Adgrf5 UTSW 17 43,761,788 (GRCm39) missense probably damaging 1.00
R7170:Adgrf5 UTSW 17 43,757,029 (GRCm39) missense possibly damaging 0.92
R7313:Adgrf5 UTSW 17 43,763,368 (GRCm39) critical splice donor site probably null
R7313:Adgrf5 UTSW 17 43,755,974 (GRCm39) missense probably benign 0.01
R7331:Adgrf5 UTSW 17 43,748,484 (GRCm39) missense probably damaging 0.99
R7346:Adgrf5 UTSW 17 43,762,070 (GRCm39) missense probably damaging 1.00
R7350:Adgrf5 UTSW 17 43,739,335 (GRCm39) critical splice acceptor site probably null
R7667:Adgrf5 UTSW 17 43,756,930 (GRCm39) missense probably benign 0.01
R7717:Adgrf5 UTSW 17 43,761,644 (GRCm39) missense probably damaging 1.00
R7731:Adgrf5 UTSW 17 43,761,451 (GRCm39) missense probably damaging 1.00
R7877:Adgrf5 UTSW 17 43,752,729 (GRCm39) missense possibly damaging 0.63
R7950:Adgrf5 UTSW 17 43,762,048 (GRCm39) missense probably damaging 0.99
R7988:Adgrf5 UTSW 17 43,750,704 (GRCm39) intron probably benign
R8188:Adgrf5 UTSW 17 43,741,503 (GRCm39) missense probably damaging 1.00
R8219:Adgrf5 UTSW 17 43,760,750 (GRCm39) missense probably benign 0.13
R8284:Adgrf5 UTSW 17 43,766,161 (GRCm39) missense unknown
R8460:Adgrf5 UTSW 17 43,750,699 (GRCm39) intron probably benign
R8504:Adgrf5 UTSW 17 43,757,840 (GRCm39) missense probably benign 0.01
R8751:Adgrf5 UTSW 17 43,748,574 (GRCm39) missense possibly damaging 0.80
R8852:Adgrf5 UTSW 17 43,763,989 (GRCm39) missense possibly damaging 0.82
R9196:Adgrf5 UTSW 17 43,755,995 (GRCm39) missense possibly damaging 0.94
R9418:Adgrf5 UTSW 17 43,737,864 (GRCm39) missense probably benign 0.00
R9671:Adgrf5 UTSW 17 43,760,795 (GRCm39) missense probably damaging 1.00
R9734:Adgrf5 UTSW 17 43,763,199 (GRCm39) missense probably damaging 1.00
R9756:Adgrf5 UTSW 17 43,761,137 (GRCm39) missense probably benign 0.01
R9765:Adgrf5 UTSW 17 43,748,491 (GRCm39) missense probably damaging 1.00
X0017:Adgrf5 UTSW 17 43,737,936 (GRCm39) missense probably damaging 1.00
Z1177:Adgrf5 UTSW 17 43,755,944 (GRCm39) missense probably benign 0.00
Z1191:Adgrf5 UTSW 17 43,755,926 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TCATGTCCTTAAGACCTTCGG -3'
(R):5'- TCTCCTAAGGGCTGAGAATCCTG -3'

Sequencing Primer
(F):5'- GTCCTTAAGACCTTCGGTAAGCAG -3'
(R):5'- TGAGAATCCTGCTGAGCCAG -3'
Posted On 2017-02-10