Incidental Mutation 'R5791:Gfral'
ID 446979
Institutional Source Beutler Lab
Gene Symbol Gfral
Ensembl Gene ENSMUSG00000059383
Gene Name GDNF family receptor alpha like
Synonyms GRAL
MMRRC Submission 043207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 76071389-76120939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76104328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 228 (R228Q)
Ref Sequence ENSEMBL: ENSMUSP00000139120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074880] [ENSMUST00000184693]
AlphaFold Q6SJE0
Predicted Effect probably benign
Transcript: ENSMUST00000074880
AA Change: R228Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: R228Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
GDNF 24 99 4.05e0 SMART
GDNF 131 210 1.15e-19 SMART
GDNF 220 316 3.15e-17 SMART
transmembrane domain 351 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184693
AA Change: R228Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139120
Gene: ENSMUSG00000059383
AA Change: R228Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
GDNF 24 99 4.05e0 SMART
GDNF 131 210 1.15e-19 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout leads to increased susceptibility to diet-induced obesity caused by overeating and reduced glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,639 (GRCm39) S276P probably benign Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown Het
Other mutations in Gfral
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Gfral APN 9 76,072,107 (GRCm39) nonsense probably null
IGL02383:Gfral APN 9 76,104,374 (GRCm39) missense probably damaging 0.97
IGL02987:Gfral APN 9 76,104,583 (GRCm39) missense possibly damaging 0.82
IGL03002:Gfral APN 9 76,104,520 (GRCm39) missense possibly damaging 0.61
IGL03055:Gfral UTSW 9 76,115,831 (GRCm39) missense probably benign 0.00
PIT4585001:Gfral UTSW 9 76,104,576 (GRCm39) missense probably damaging 1.00
R0268:Gfral UTSW 9 76,104,383 (GRCm39) missense probably damaging 1.00
R0547:Gfral UTSW 9 76,115,924 (GRCm39) missense probably benign 0.16
R1146:Gfral UTSW 9 76,074,341 (GRCm39) missense probably benign 0.00
R1146:Gfral UTSW 9 76,074,341 (GRCm39) missense probably benign 0.00
R1275:Gfral UTSW 9 76,104,314 (GRCm39) missense probably damaging 1.00
R1830:Gfral UTSW 9 76,100,485 (GRCm39) missense probably benign 0.01
R2249:Gfral UTSW 9 76,100,631 (GRCm39) missense probably damaging 1.00
R3709:Gfral UTSW 9 76,100,725 (GRCm39) nonsense probably null
R4712:Gfral UTSW 9 76,100,727 (GRCm39) missense possibly damaging 0.71
R5567:Gfral UTSW 9 76,115,900 (GRCm39) missense probably benign 0.00
R5568:Gfral UTSW 9 76,072,087 (GRCm39) makesense probably null
R5719:Gfral UTSW 9 76,104,328 (GRCm39) missense probably benign 0.02
R5789:Gfral UTSW 9 76,104,328 (GRCm39) missense probably benign 0.02
R7110:Gfral UTSW 9 76,072,112 (GRCm39) missense possibly damaging 0.84
R7549:Gfral UTSW 9 76,106,257 (GRCm39) missense probably benign 0.14
R7782:Gfral UTSW 9 76,100,572 (GRCm39) missense probably benign 0.43
R7851:Gfral UTSW 9 76,112,737 (GRCm39) missense probably benign 0.03
R9160:Gfral UTSW 9 76,104,372 (GRCm39) missense possibly damaging 0.83
R9568:Gfral UTSW 9 76,104,383 (GRCm39) missense probably damaging 1.00
Z1177:Gfral UTSW 9 76,112,671 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AAAGGGTGCCACAACACATG -3'
(R):5'- GGAAATCTGTGTGATGTGAAACAC -3'

Sequencing Primer
(F):5'- CACATGTACCACAGATTCAAAATGTG -3'
(R):5'- CTGTGTGATGTGAAACACTGCCAAG -3'
Posted On 2016-12-15