Incidental Mutation 'R1758:Adgrf5'
ID 195132
Institutional Source Beutler Lab
Gene Symbol Adgrf5
Ensembl Gene ENSMUSG00000056492
Gene Name adhesion G protein-coupled receptor F5
Synonyms 8430401C09Rik, Gpr116
MMRRC Submission 039790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1758 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 43671342-43770448 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 43735484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113599] [ENSMUST00000224278] [ENSMUST00000225466] [ENSMUST00000225962] [ENSMUST00000226087]
AlphaFold G5E8Q8
Predicted Effect probably null
Transcript: ENSMUST00000113599
SMART Domains Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492

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: ENSMUST00000224278
Predicted Effect probably benign
Transcript: ENSMUST00000225466
Predicted Effect probably benign
Transcript: ENSMUST00000225962
Predicted Effect probably null
Transcript: ENSMUST00000226087
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,612,237 (GRCm39) R38G possibly damaging Het
4930590J08Rik T C 6: 91,892,203 (GRCm39) V155A possibly damaging Het
Adgb A G 10: 10,302,349 (GRCm39) S406P probably damaging Het
Adgrb2 C A 4: 129,905,668 (GRCm39) T893N probably damaging Het
Alms1 T A 6: 85,605,487 (GRCm39) I2379N probably damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf4 C T 15: 80,141,414 (GRCm39) T268I probably benign Het
Cblif G A 19: 11,735,179 (GRCm39) M266I probably damaging Het
Ccdc154 T C 17: 25,382,156 (GRCm39) L25P probably damaging Het
Ccdc9 G A 7: 16,010,161 (GRCm39) S381F probably damaging Het
Cdk17 C T 10: 93,044,112 (GRCm39) T17M probably damaging Het
Cep128 T C 12: 91,314,352 (GRCm39) N142S probably benign Het
Cep78 A G 19: 15,936,900 (GRCm39) I602T probably damaging Het
Clasp1 C T 1: 118,475,755 (GRCm39) T935I probably damaging Het
Cnr1 T C 4: 33,945,000 (GRCm39) S463P probably damaging Het
Cntnap1 T A 11: 101,075,449 (GRCm39) W876R probably damaging Het
Cntnap5c A G 17: 58,349,545 (GRCm39) D286G probably damaging Het
Copa C T 1: 171,931,711 (GRCm39) R321C probably damaging Het
Cspg4b A G 13: 113,505,266 (GRCm39) T2132A possibly damaging Het
Ctla2a T G 13: 61,083,256 (GRCm39) E98A probably damaging Het
Cux1 A T 5: 136,421,176 (GRCm39) D183E probably damaging Het
Cxcl15 A C 5: 90,949,323 (GRCm39) T163P unknown Het
Ddias T C 7: 92,508,571 (GRCm39) N448S probably benign Het
Dhx8 T C 11: 101,657,564 (GRCm39) F1152S probably damaging Het
Dnah12 C A 14: 26,488,071 (GRCm39) Q992K probably benign Het
Eno3 G T 11: 70,552,251 (GRCm39) W301L possibly damaging Het
Faap100 A T 11: 120,268,059 (GRCm39) V238E probably damaging Het
Fgf4 A G 7: 144,416,049 (GRCm39) S137G probably benign Het
Fhod3 A C 18: 25,253,367 (GRCm39) D1439A possibly damaging Het
Frem2 A G 3: 53,560,778 (GRCm39) L1243P probably damaging Het
Gkn3 T G 6: 87,365,817 (GRCm39) M1L probably benign Het
Gm10250 T C 15: 5,150,509 (GRCm39) probably benign Het
Gm12185 T C 11: 48,798,859 (GRCm39) T545A possibly damaging Het
Gm14226 T A 2: 154,867,378 (GRCm39) L445H probably damaging Het
Gm3404 A T 5: 146,463,036 (GRCm39) M73L probably benign Het
Gm973 G T 1: 59,673,169 (GRCm39) R976S unknown Het
Gpr146 A T 5: 139,379,137 (GRCm39) H313L probably benign Het
Gys2 T A 6: 142,418,432 (GRCm39) E32D probably damaging Het
Igsf10 G A 3: 59,236,617 (GRCm39) T1188I probably benign Het
Igsf9b A T 9: 27,245,548 (GRCm39) T1172S possibly damaging Het
Itga8 T A 2: 12,270,144 (GRCm39) N114I possibly damaging Het
Itsn2 T A 12: 4,708,160 (GRCm39) V795E possibly damaging Het
Kdm1b T A 13: 47,214,244 (GRCm39) S197T probably benign Het
Kif5c G A 2: 49,613,145 (GRCm39) R161Q probably benign Het
Krt33b T C 11: 99,916,361 (GRCm39) Y232C probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1 A T 10: 127,424,453 (GRCm39) N744K possibly damaging Het
Mcm10 C A 2: 5,008,861 (GRCm39) L369F probably damaging Het
Muc5ac T A 7: 141,355,268 (GRCm39) I1018N possibly damaging Het
Myom2 T C 8: 15,115,795 (GRCm39) L70P probably benign Het
Myt1l T A 12: 29,877,241 (GRCm39) N297K unknown Het
Ncr1 C T 7: 4,343,807 (GRCm39) T98I probably benign Het
Nek3 T C 8: 22,650,278 (GRCm39) E78G probably damaging Het
Nfatc3 T A 8: 106,825,768 (GRCm39) N606K probably damaging Het
Nup107 T G 10: 117,597,248 (GRCm39) D669A probably damaging Het
Or10ag52 A T 2: 87,043,758 (GRCm39) Q174L probably benign Het
Or10c1 A T 17: 37,522,204 (GRCm39) I180N possibly damaging Het
Or4c3 T C 2: 89,851,673 (GRCm39) T246A probably benign Het
Or8b55 A T 9: 38,726,871 (GRCm39) H24L probably benign Het
Pcnx1 T C 12: 82,030,258 (GRCm39) V1711A probably benign Het
Pik3c3 A G 18: 30,410,063 (GRCm39) D99G probably damaging Het
Pinx1 C A 14: 64,157,024 (GRCm39) T317K probably benign Het
Ppargc1b G T 18: 61,431,857 (GRCm39) probably null Het
Pradc1 T A 6: 85,424,203 (GRCm39) I119F possibly damaging Het
Psat1 G T 19: 15,892,243 (GRCm39) T242K probably damaging Het
Psma6 G A 12: 55,454,317 (GRCm39) C28Y probably damaging Het
Pyurf A T 6: 57,668,817 (GRCm39) C58* probably null Het
Rab3gap2 C A 1: 185,016,081 (GRCm39) A1331E probably benign Het
Rnase4 T C 14: 51,342,722 (GRCm39) *149Q probably null Het
Ruvbl2 T C 7: 45,074,586 (GRCm39) K184R probably benign Het
Scn7a T G 2: 66,510,527 (GRCm39) M1292L probably benign Het
Scn7a A T 2: 66,531,231 (GRCm39) Y549N probably damaging Het
Selp A G 1: 163,959,854 (GRCm39) D370G possibly damaging Het
Slc22a15 G A 3: 101,767,769 (GRCm39) Q386* probably null Het
Slc22a29 A G 19: 8,195,126 (GRCm39) probably null Het
Slc26a7 A C 4: 14,548,491 (GRCm39) I266S possibly damaging Het
Smpd4 T C 16: 17,443,872 (GRCm39) S112P probably damaging Het
Smpd4 T A 16: 17,458,744 (GRCm39) L165Q probably damaging Het
Snx33 A G 9: 56,833,982 (GRCm39) I29T probably benign Het
Spen G A 4: 141,203,686 (GRCm39) P1647L unknown Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Swsap1 C T 9: 21,867,280 (GRCm39) R75* probably null Het
Tesl1 A G X: 23,772,990 (GRCm39) I164V probably benign Het
Tmem210 C T 2: 25,178,435 (GRCm39) T32I probably damaging Het
Tnn C T 1: 159,975,154 (GRCm39) R91H possibly damaging Het
Tnni1 G A 1: 135,736,420 (GRCm39) R94H probably damaging Het
Tnrc6c T A 11: 117,651,556 (GRCm39) V1693D probably benign Het
Trip4 G A 9: 65,782,259 (GRCm39) Q158* probably null Het
Ttc39b T C 4: 83,155,586 (GRCm39) E474G probably damaging Het
Usp50 C A 2: 126,617,782 (GRCm39) C221F probably damaging Het
Vmn1r171 T C 7: 23,331,781 (GRCm39) I2T probably benign Het
Wdr62 T A 7: 29,967,328 (GRCm39) I309F probably damaging Het
Xdh A T 17: 74,217,204 (GRCm39) V688E probably damaging Het
Zfyve26 A G 12: 79,285,718 (GRCm39) L2353P probably damaging Het
Zgpat C A 2: 181,020,633 (GRCm39) R269S 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
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
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'- TCTGCACTCCTGCTGGAAATGAC -3'
(R):5'- AGCACACTGCCCACTGTGAATG -3'

Sequencing Primer
(F):5'- CCTGCTGGAAATGACCTCTTG -3'
(R):5'- TCTTGGGTAAAGACTCCAGC -3'
Posted On 2014-05-23