Incidental Mutation 'R7170:Adgrf5'
ID 558225
Institutional Source Beutler Lab
Gene Symbol Adgrf5
Ensembl Gene ENSMUSG00000056492
Gene Name adhesion G protein-coupled receptor F5
Synonyms 8430401C09Rik, Gpr116
MMRRC Submission 045332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7170 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 43671342-43770448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43757029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 708 (V708M)
Ref Sequence ENSEMBL: ENSMUSP00000109229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113599] [ENSMUST00000225004] [ENSMUST00000225962] [ENSMUST00000226087]
AlphaFold G5E8Q8
Predicted Effect possibly damaging
Transcript: ENSMUST00000113599
AA Change: V708M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: V708M

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 possibly damaging
Transcript: ENSMUST00000225962
AA Change: V503M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226087
AA Change: V708M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,836,654 (GRCm39) T1214A probably benign Het
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Col4a3 G A 1: 82,693,630 (GRCm39) probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gne A G 4: 44,040,361 (GRCm39) L601P possibly damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Slc32a1 T C 2: 158,453,243 (GRCm39) F28L probably damaging Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Usp15 C A 10: 123,007,100 (GRCm39) C127F probably damaging Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G possibly 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
R5856:Adgrf5 UTSW 17 43,757,011 (GRCm39) missense probably benign 0.09
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
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'- ATCATGTCCTTAAGACCTTCGG -3'
(R):5'- ATTTCAGAGCGGTACATGGCC -3'

Sequencing Primer
(F):5'- GTCCTTAAGACCTTCGGTAAGCAG -3'
(R):5'- CAGTTCTCCTAAGGGCTGAGAATC -3'
Posted On 2019-06-26