Incidental Mutation 'R1523:Adgrf5'
ID 167676
Institutional Source Beutler Lab
Gene Symbol Adgrf5
Ensembl Gene ENSMUSG00000056492
Gene Name adhesion G protein-coupled receptor F5
Synonyms 8430401C09Rik, Gpr116
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1523 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 43671342-43770448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43761044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 913 (Q913L)
Ref Sequence ENSEMBL: ENSMUSP00000153049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113599] [ENSMUST00000225962] [ENSMUST00000226087]
AlphaFold G5E8Q8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082648
Predicted Effect probably benign
Transcript: ENSMUST00000113599
AA Change: Q913L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109229
Gene: ENSMUSG00000056492
AA Change: Q913L

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: ENSMUST00000225962
AA Change: Q708L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000226087
AA Change: Q913L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,331,232 (GRCm39) E48* probably null Het
4930503B20Rik A G 3: 146,356,864 (GRCm39) S15P probably damaging Het
5530400C23Rik A G 6: 133,271,256 (GRCm39) E100G possibly damaging Het
Abcg2 T C 6: 58,662,679 (GRCm39) F507S possibly damaging Het
Ak7 A T 12: 105,732,867 (GRCm39) N537I probably benign Het
Anks1 T A 17: 28,270,629 (GRCm39) probably null Het
Arhgap32 T A 9: 32,168,048 (GRCm39) V677D probably damaging Het
Ark2c G A 18: 77,550,634 (GRCm39) T98I probably benign Het
Arnt C T 3: 95,396,965 (GRCm39) P466L possibly damaging Het
Arrb1 T G 7: 99,243,872 (GRCm39) L274R probably damaging Het
Atf2 A T 2: 73,693,552 (GRCm39) D3E probably damaging Het
Baz2b C T 2: 59,798,981 (GRCm39) R381Q possibly damaging Het
Cacna1g C T 11: 94,333,555 (GRCm39) probably null Het
Ccr10 C T 11: 101,064,501 (GRCm39) R343Q probably damaging Het
Clca3a2 G T 3: 144,777,405 (GRCm39) S822* probably null Het
Col12a1 A T 9: 79,568,278 (GRCm39) Y1649N probably benign Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Cp T C 3: 20,043,229 (GRCm39) Y1006H probably benign Het
Ctbs A G 3: 146,160,735 (GRCm39) T101A probably benign Het
Cyp4a31 T C 4: 115,426,951 (GRCm39) F170L probably benign Het
Dock1 A C 7: 134,345,976 (GRCm39) I173L possibly damaging Het
Dock4 A G 12: 40,743,024 (GRCm39) D393G possibly damaging Het
Dsg1a T A 18: 20,455,374 (GRCm39) S113T probably damaging Het
Epha3 T C 16: 63,431,311 (GRCm39) D530G probably damaging Het
Erbb4 T A 1: 68,435,411 (GRCm39) H162L possibly damaging Het
Fam131c C T 4: 141,110,142 (GRCm39) T180I probably benign Het
Fndc1 A G 17: 7,992,041 (GRCm39) S552P unknown Het
Foxf1 A G 8: 121,811,297 (GRCm39) probably null Het
Frem2 T C 3: 53,562,828 (GRCm39) T560A possibly damaging Het
Gabra4 G A 5: 71,790,975 (GRCm39) T289M probably damaging Het
Gcnt1 A G 19: 17,307,197 (GRCm39) V176A probably damaging Het
Gemin8 G A X: 164,963,644 (GRCm39) S100N probably benign Het
Gm1527 T C 3: 28,974,567 (GRCm39) I460T probably damaging Het
Gm6729 A G 10: 86,376,039 (GRCm39) noncoding transcript Het
Gprin2 T C 14: 33,917,036 (GRCm39) S245G probably benign Het
Gsdmc A T 15: 63,675,479 (GRCm39) I112N probably damaging Het
Hspb6 A G 7: 30,252,848 (GRCm39) D30G probably benign Het
Hydin A G 8: 111,259,903 (GRCm39) D2625G probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf2 T A 8: 47,290,875 (GRCm39) probably null Het
Kdm3b T C 18: 34,926,226 (GRCm39) probably null Het
Khdc3 G A 9: 73,010,773 (GRCm39) E208K possibly damaging Het
Kifc1 A T 17: 34,102,636 (GRCm39) S263T probably benign Het
Lrig3 C A 10: 125,844,567 (GRCm39) T677K probably damaging Het
Magec2 T A X: 61,334,512 (GRCm39) D177E probably benign Het
Mapkapk3 A T 9: 107,140,822 (GRCm39) probably null Het
Mertk T C 2: 128,632,248 (GRCm39) probably null Het
Metrn A G 17: 26,013,951 (GRCm39) *292R probably null Het
Mllt6 G T 11: 97,555,849 (GRCm39) A60S probably damaging Het
Mmp21 T C 7: 133,280,774 (GRCm39) I65M probably benign Het
Myo7b A G 18: 32,099,929 (GRCm39) L1651P probably damaging Het
Nhsl1 A G 10: 18,284,103 (GRCm39) S15G probably benign Het
Nos1ap T C 1: 170,165,687 (GRCm39) D192G probably benign Het
Nrcam A G 12: 44,619,032 (GRCm39) T844A probably damaging Het
Pax4 A G 6: 28,444,840 (GRCm39) L203P probably damaging Het
Pbld2 T C 10: 62,912,212 (GRCm39) I280T probably benign Het
Pclo A G 5: 14,838,420 (GRCm39) Y4681C unknown Het
Phyhip T A 14: 70,699,200 (GRCm39) M1K probably null Het
Plppr4 T C 3: 117,116,490 (GRCm39) N456D probably damaging Het
Prpf31 T C 7: 3,643,856 (GRCm39) Y473H probably damaging Het
Rapgef2 A T 3: 79,000,056 (GRCm39) V564D probably damaging Het
Rexo1 T C 10: 80,378,585 (GRCm39) S1123G probably benign Het
Rnasel C A 1: 153,631,759 (GRCm39) Q513K probably damaging Het
Rnf213 T C 11: 119,332,714 (GRCm39) V2641A probably damaging Het
Rnf40 G T 7: 127,189,787 (GRCm39) R184L probably damaging Het
Rnf8 A G 17: 29,845,946 (GRCm39) K179R probably damaging Het
Sipa1l2 C T 8: 126,174,352 (GRCm39) D1309N possibly damaging Het
Slc25a38 T A 9: 119,952,769 (GRCm39) M307K possibly damaging Het
Snx33 T C 9: 56,833,466 (GRCm39) D201G possibly damaging Het
Sulf1 T A 1: 12,887,574 (GRCm39) Y249* probably null Het
Sult2a4 G A 7: 13,643,785 (GRCm39) Q261* probably null Het
Syndig1 G A 2: 149,845,154 (GRCm39) A226T probably damaging Het
Tcaf2 C T 6: 42,601,385 (GRCm39) W891* probably null Het
Tcf15 C A 2: 151,985,808 (GRCm39) T88K probably damaging Het
Tmem19 A T 10: 115,183,122 (GRCm39) M117K probably damaging Het
Trim32 T C 4: 65,532,241 (GRCm39) L266P probably benign Het
Vmn2r11 T C 5: 109,201,707 (GRCm39) I266V probably benign Het
Vmn2r73 A T 7: 85,519,486 (GRCm39) Y491N probably benign Het
Wrn C T 8: 33,782,744 (GRCm39) E486K probably benign Het
Zfp457 T C 13: 67,441,501 (GRCm39) E262G probably damaging Het
Zfp598 A G 17: 24,897,603 (GRCm39) D308G probably null Het
Zup1 T C 10: 33,803,436 (GRCm39) I549M 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
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
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'- TGGAAAGGTTTTCCCAAGCCCTC -3'
(R):5'- CAACTAGACAGGCAGCTAAGCTGAC -3'

Sequencing Primer
(F):5'- ACCCTAACGTTCAGATGAAGAG -3'
(R):5'- GTGGTTACACTTGCAGAAGACTC -3'
Posted On 2014-04-13