Incidental Mutation 'IGL03002:Gfral'
ID407375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfral
Ensembl Gene ENSMUSG00000059383
Gene NameGDNF family receptor alpha like
SynonymsGRAL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03002
Quality Score
Status
Chromosome9
Chromosomal Location76164102-76213657 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76197238 bp
ZygosityHeterozygous
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]
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: 66,836,969 I398V probably benign Het
Adcy4 A T 14: 55,773,556 C635S probably benign Het
Asic4 C A 1: 75,451,323 D164E possibly damaging Het
C8g T A 2: 25,498,811 *203L probably null Het
Cad T C 5: 31,054,986 V11A probably benign Het
Cckar T C 5: 53,702,905 N194S probably damaging Het
Cdc123 T C 2: 5,798,355 probably benign Het
Chrm5 T C 2: 112,480,361 T137A probably damaging Het
Cyp1a1 A G 9: 57,702,441 probably benign Het
Dapk3 G T 10: 81,190,603 E187* probably null Het
Dmtf1 T C 5: 9,140,474 E80G probably damaging Het
Dusp19 T A 2: 80,630,935 N189K probably damaging Het
Hk1 A T 10: 62,271,799 V799E probably damaging Het
Iars2 C T 1: 185,322,816 probably null Het
Jcad T A 18: 4,675,153 Y972N probably benign Het
Lrp1 A T 10: 127,589,636 D708E probably damaging Het
Mbtd1 T A 11: 93,924,490 H301Q probably benign Het
Med12 A G X: 101,295,855 T2004A probably benign Het
Mib1 T C 18: 10,798,356 I739T possibly damaging Het
Mthfsd C T 8: 121,108,279 probably benign Het
Mybpc3 T G 2: 91,123,889 F369C probably damaging Het
Nfatc2 C T 2: 168,534,984 V329M probably damaging Het
Ngef A T 1: 87,509,392 probably null Het
Nlrp1b T C 11: 71,168,859 E759G probably benign Het
Olfr432 C A 1: 174,050,625 T84N probably benign Het
Prdm4 T C 10: 85,893,152 E790G probably benign Het
Psmd12 A G 11: 107,485,781 D81G probably benign Het
Rnf144b A G 13: 47,242,883 H232R probably damaging Het
Sec63 C T 10: 42,810,909 T475M possibly damaging Het
Slc16a4 A T 3: 107,300,786 N204I probably benign Het
Socs1 T C 16: 10,784,540 N111S probably damaging Het
Srpr A G 9: 35,214,721 N432D probably damaging Het
Srrm2 A G 17: 23,815,734 probably benign Het
Svs1 A G 6: 48,987,118 H20R probably benign Het
Tgoln1 A G 6: 72,616,072 S142P possibly damaging Het
Trbv13-1 A G 6: 41,116,235 N34S probably benign Het
Vmn2r26 T C 6: 124,039,795 V406A possibly damaging Het
Vsig1 G T X: 140,926,339 G79V probably damaging Het
Other mutations in Gfral
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Gfral APN 9 76164825 nonsense probably null
IGL02383:Gfral APN 9 76197092 missense probably damaging 0.97
IGL02987:Gfral APN 9 76197301 missense possibly damaging 0.82
IGL03055:Gfral UTSW 9 76208549 missense probably benign 0.00
PIT4585001:Gfral UTSW 9 76197294 missense probably damaging 1.00
R0268:Gfral UTSW 9 76197101 missense probably damaging 1.00
R0547:Gfral UTSW 9 76208642 missense probably benign 0.16
R1146:Gfral UTSW 9 76167059 missense probably benign 0.00
R1146:Gfral UTSW 9 76167059 missense probably benign 0.00
R1275:Gfral UTSW 9 76197032 missense probably damaging 1.00
R1830:Gfral UTSW 9 76193203 missense probably benign 0.01
R2249:Gfral UTSW 9 76193349 missense probably damaging 1.00
R3709:Gfral UTSW 9 76193443 nonsense probably null
R4712:Gfral UTSW 9 76193445 missense possibly damaging 0.71
R5567:Gfral UTSW 9 76208618 missense probably benign 0.00
R5568:Gfral UTSW 9 76164805 makesense probably null
R5719:Gfral UTSW 9 76197046 missense probably benign 0.02
R5789:Gfral UTSW 9 76197046 missense probably benign 0.02
R5791:Gfral UTSW 9 76197046 missense probably benign 0.02
R7110:Gfral UTSW 9 76164830 missense possibly damaging 0.84
R7549:Gfral UTSW 9 76198975 missense probably benign 0.14
R7782:Gfral UTSW 9 76193290 missense probably benign 0.43
R7851:Gfral UTSW 9 76205455 missense probably benign 0.03
R7934:Gfral UTSW 9 76205455 missense probably benign 0.03
Z1177:Gfral UTSW 9 76205389 missense probably benign 0.26
Posted On2016-08-02