Incidental Mutation 'R1888:Adgrf5'
ID 211938
Institutional Source Beutler Lab
Gene Symbol Adgrf5
Ensembl Gene ENSMUSG00000056492
Gene Name adhesion G protein-coupled receptor F5
Synonyms 8430401C09Rik, Gpr116
MMRRC Submission 039909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1888 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 43671342-43770448 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 43737896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113599] [ENSMUST00000224278] [ENSMUST00000225004] [ENSMUST00000225466] [ENSMUST00000225962] [ENSMUST00000225962] [ENSMUST00000225962] [ENSMUST00000226087]
AlphaFold G5E8Q8
Predicted Effect probably benign
Transcript: ENSMUST00000113599
AA Change: H243Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: H243Q

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: ENSMUST00000225004
Predicted Effect probably benign
Transcript: ENSMUST00000225466
Predicted Effect probably null
Transcript: ENSMUST00000225962
Predicted Effect probably null
Transcript: ENSMUST00000225962
Predicted Effect probably null
Transcript: ENSMUST00000225962
Predicted Effect probably benign
Transcript: ENSMUST00000226087
AA Change: H243Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.1471 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,960,030 (GRCm39) M80T unknown Het
4930578I06Rik A G 14: 64,223,632 (GRCm39) L48P probably damaging Het
Abcc9 A G 6: 142,625,040 (GRCm39) S452P probably benign Het
Adgrb2 T C 4: 129,907,419 (GRCm39) F977S probably damaging Het
Adgrl4 A G 3: 151,144,914 (GRCm39) N21S probably benign Het
Adss2 A T 1: 177,612,517 (GRCm39) Y77* probably null Het
Ahnak A T 19: 8,984,452 (GRCm39) D1912V probably damaging Het
Ahnak2 A G 12: 112,740,325 (GRCm39) M1249T possibly damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Bbs12 C A 3: 37,374,712 (GRCm39) L387I probably damaging Het
Ciita T C 16: 10,328,948 (GRCm39) Y411H probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clec9a G A 6: 129,387,249 (GRCm39) V35I probably benign Het
Cntn5 T A 9: 9,984,082 (GRCm39) Q382L possibly damaging Het
Cracdl T C 1: 37,663,364 (GRCm39) K845E possibly damaging Het
Dock2 A T 11: 34,598,169 (GRCm39) I334N probably damaging Het
Dock9 G T 14: 121,862,617 (GRCm39) T833K probably benign Het
Drd2 G A 9: 49,313,442 (GRCm39) V204I probably benign Het
Fam120a A T 13: 49,039,342 (GRCm39) I938N possibly damaging Het
Fndc1 T C 17: 7,990,621 (GRCm39) E1025G unknown Het
Fsip2 G A 2: 82,774,504 (GRCm39) D64N probably benign Het
Gm14496 T A 2: 181,641,989 (GRCm39) C553* probably null Het
Gm6020 C T 19: 61,172,391 (GRCm39) H22Y possibly damaging Het
Hexa A G 9: 59,464,586 (GRCm39) T159A probably benign Het
Hmcn1 C G 1: 150,695,251 (GRCm39) A218P possibly damaging Het
Hpgds A G 6: 65,115,217 (GRCm39) F22S probably damaging Het
Il5ra T A 6: 106,708,874 (GRCm39) N289Y probably damaging Het
Irf2 A T 8: 47,260,388 (GRCm39) R107* probably null Het
Kcnk6 T C 7: 28,925,075 (GRCm39) I180M probably benign Het
Krtap5-3 G A 7: 141,755,979 (GRCm39) probably benign Het
Lrig1 C T 6: 94,631,859 (GRCm39) A114T probably benign Het
Lrrc37a A G 11: 103,389,587 (GRCm39) V1946A probably benign Het
Lrrc8b T C 5: 105,629,217 (GRCm39) V521A probably benign Het
Macf1 T G 4: 123,348,835 (GRCm39) I2154L possibly damaging Het
Macf1 C A 4: 123,368,505 (GRCm39) E2085D probably benign Het
Maml1 C T 11: 50,157,468 (GRCm39) A236T probably benign Het
Mdc1 C A 17: 36,165,117 (GRCm39) T1481K probably benign Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mfap3l T C 8: 61,124,424 (GRCm39) V222A possibly damaging Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mpped2 T C 2: 106,529,790 (GRCm39) I13T probably benign Het
Mthfd1l C A 10: 4,056,528 (GRCm39) T948K probably damaging Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mtx3 A G 13: 92,984,191 (GRCm39) E156G probably benign Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Myh2 G A 11: 67,071,676 (GRCm39) V498M probably damaging Het
Myo15b G A 11: 115,777,899 (GRCm39) G1049S probably damaging Het
Myo1b T A 1: 51,799,562 (GRCm39) probably null Het
Ndufa2 T A 18: 36,877,573 (GRCm39) probably benign Het
Nipal2 T C 15: 34,625,167 (GRCm39) I129M possibly damaging Het
Nt5dc3 A G 10: 86,669,926 (GRCm39) N507S possibly damaging Het
Or4b12 A G 2: 90,095,913 (GRCm39) L287P probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Pcdhb17 G A 18: 37,620,438 (GRCm39) probably null Het
Pcyt2 A G 11: 120,508,677 (GRCm39) M1T probably null Het
Pla2g2d T C 4: 138,503,126 (GRCm39) M1T probably null Het
Plekhg6 T C 6: 125,340,306 (GRCm39) T685A probably damaging Het
Pramel19 T A 4: 101,798,335 (GRCm39) V102E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pxk T C 14: 8,151,540 (GRCm38) S452P probably damaging Het
Rab42 A T 4: 132,030,529 (GRCm39) D40E probably benign Het
Rapgef6 A C 11: 54,551,654 (GRCm39) T836P probably damaging Het
Serpina3a A G 12: 104,082,362 (GRCm39) D45G probably benign Het
Sntb1 T A 15: 55,612,745 (GRCm39) R278* probably null Het
Spice1 T G 16: 44,185,989 (GRCm39) S111A probably damaging Het
Stk40 T A 4: 126,019,538 (GRCm39) L90Q probably damaging Het
Syk A G 13: 52,794,826 (GRCm39) Y520C probably damaging Het
Syngr2 G A 11: 117,704,224 (GRCm39) V170M possibly damaging Het
Tcf12 A T 9: 71,765,816 (GRCm39) D541E possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlr4 T C 4: 66,759,409 (GRCm39) V734A probably damaging Het
Tmem132a T C 19: 10,840,863 (GRCm39) E389G probably damaging Het
Tmem150b A G 7: 4,712,044 (GRCm39) I112T probably benign Het
Tril A G 6: 53,796,577 (GRCm39) L215P probably damaging Het
Trim24 G T 6: 37,934,013 (GRCm39) R652L probably damaging Het
Ttn G A 2: 76,623,151 (GRCm39) P15429S probably damaging Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Tubgcp2 A G 7: 139,579,183 (GRCm39) V701A probably damaging Het
Tubgcp2 A G 7: 139,586,069 (GRCm39) F407L probably damaging Het
Vmn1r30 A C 6: 58,412,475 (GRCm39) L119R possibly damaging Het
Washc5 A C 15: 59,231,174 (GRCm39) L363R probably damaging Het
Zan T C 5: 137,387,590 (GRCm39) T4874A unknown Het
Zfp420 A T 7: 29,573,933 (GRCm39) H51L probably damaging Het
Zfp512b C A 2: 181,230,235 (GRCm39) R497L probably damaging Het
Zmat4 A G 8: 24,505,177 (GRCm39) N139S probably damaging Het
Zng1 A T 19: 24,932,769 (GRCm39) V88D 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
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'- GAACTCGGTTGTCCTCTGCT -3'
(R):5'- TGGCACTCCAAGGAAATTGT -3'

Sequencing Primer
(F):5'- TATTTTGCTTTTCTGTGCAATAAGCC -3'
(R):5'- CAAGAATCTCTGGGGTAGATTTCC -3'
Posted On 2014-06-30