Incidental Mutation 'IGL02987:Gfral'
ID406755
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: 0.072) question?
Stock #IGL02987
Quality Score
Status
Chromosome9
Chromosomal Location76164102-76213657 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76197301 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 143 (V143A)
Ref Sequence ENSEMBL: ENSMUSP00000139120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074880] [ENSMUST00000184693]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074880
AA Change: V143A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: V143A

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: V143A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139120
Gene: ENSMUSG00000059383
AA Change: V143A

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,593,592 D222G probably damaging Het
Apbb1ip T A 2: 22,867,637 Y422* probably null Het
Asf1a T C 10: 53,597,271 F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,562 M319K possibly damaging Het
Bsn A G 9: 108,126,304 S301P probably benign Het
Cds1 A G 5: 101,812,525 I281V possibly damaging Het
Col4a4 T C 1: 82,498,925 probably benign Het
Coq2 G A 5: 100,663,688 Q103* probably null Het
Dgkh A G 14: 78,589,872 probably null Het
Dnah9 C A 11: 65,841,273 R4269L probably benign Het
Dnah9 A G 11: 65,855,272 I4005T probably damaging Het
F2rl1 T A 13: 95,514,233 Q47L probably benign Het
Fhod3 T C 18: 25,113,553 V1272A possibly damaging Het
Gdpd4 T C 7: 97,961,551 probably benign Het
Gltp A C 5: 114,674,182 F88V probably benign Het
Hectd1 T G 12: 51,744,767 K2565T probably damaging Het
Jade2 A G 11: 51,830,481 S207P probably damaging Het
Khdc3 A G 9: 73,102,666 I53V possibly damaging Het
Lce1a1 T C 3: 92,647,102 T22A unknown Het
Lgals9 A T 11: 78,967,477 H196Q possibly damaging Het
Lrrc37a A T 11: 103,500,413 N1395K probably benign Het
Mast1 C T 8: 84,925,719 V268I possibly damaging Het
Myh11 T G 16: 14,232,532 E523A probably damaging Het
Napb T C 2: 148,697,511 probably null Het
Nlrp4e G A 7: 23,301,433 R51H probably damaging Het
Ola1 T C 2: 73,156,898 D130G probably benign Het
Olfr891 A T 9: 38,180,623 S67T possibly damaging Het
Pard3 G A 8: 127,389,491 C687Y probably damaging Het
Rassf9 A G 10: 102,545,248 T164A possibly damaging Het
Sema3a A G 5: 13,565,896 Y429C probably damaging Het
Slc25a54 T C 3: 109,116,337 V416A probably benign Het
Slc30a5 T C 13: 100,803,915 T631A probably damaging Het
Sorl1 A T 9: 42,041,053 C736S probably damaging Het
Tet3 A T 6: 83,368,092 S1788T probably damaging Het
Trim42 A G 9: 97,365,815 V276A probably benign 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
IGL03002:Gfral APN 9 76197238 missense possibly damaging 0.61
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
Z1177:Gfral UTSW 9 76205389 missense probably benign 0.26
Posted On2016-08-02