Incidental Mutation 'IGL03002:Gfral'
ID 407375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfral
Ensembl Gene ENSMUSG00000059383
Gene Name GDNF family receptor alpha like
Synonyms GRAL
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL03002
Quality Score
Status
Chromosome 9
Chromosomal Location 76071389-76120939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76104520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 164 (V164A)
Ref Sequence ENSEMBL: ENSMUSP00000139120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074880] [ENSMUST00000184693]
AlphaFold Q6SJE0
Predicted Effect possibly damaging
Transcript: ENSMUST00000074880
AA Change: V164A

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: V164A

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 possibly damaging
Transcript: ENSMUST00000184693
AA Change: V164A

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139120
Gene: ENSMUSG00000059383
AA Change: V164A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
GDNF 24 99 4.05e0 SMART
GDNF 131 210 1.15e-19 SMART
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging 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
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
R5791: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
Posted On 2016-08-02