Incidental Mutation 'IGL02987:Gfral'
ID 406755
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 # IGL02987
Quality Score
Status
Chromosome 9
Chromosomal Location 76071389-76120939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76104583 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6SJE0
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: 4,643,591 (GRCm39) D222G probably damaging Het
Apbb1ip T A 2: 22,757,649 (GRCm39) Y422* probably null Het
Asf1a T C 10: 53,473,367 (GRCm39) F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,806 (GRCm39) M319K possibly damaging Het
Bsn A G 9: 108,003,503 (GRCm39) S301P probably benign Het
Cds1 A G 5: 101,960,391 (GRCm39) I281V possibly damaging Het
Col4a4 T C 1: 82,476,646 (GRCm39) probably benign Het
Coq2 G A 5: 100,811,554 (GRCm39) Q103* probably null Het
Dgkh A G 14: 78,827,312 (GRCm39) probably null Het
Dnah9 A G 11: 65,746,098 (GRCm39) I4005T probably damaging Het
Dnah9 C A 11: 65,732,099 (GRCm39) R4269L probably benign Het
F2rl1 T A 13: 95,650,741 (GRCm39) Q47L probably benign Het
Fhod3 T C 18: 25,246,610 (GRCm39) V1272A possibly damaging Het
Gdpd4 T C 7: 97,610,758 (GRCm39) probably benign Het
Gltp A C 5: 114,812,243 (GRCm39) F88V probably benign Het
Hectd1 T G 12: 51,791,550 (GRCm39) K2565T probably damaging Het
Jade2 A G 11: 51,721,308 (GRCm39) S207P probably damaging Het
Khdc3 A G 9: 73,009,948 (GRCm39) I53V possibly damaging Het
Lce1a1 T C 3: 92,554,409 (GRCm39) T22A unknown Het
Lgals9 A T 11: 78,858,303 (GRCm39) H196Q possibly damaging Het
Lrrc37a A T 11: 103,391,239 (GRCm39) N1395K probably benign Het
Mast1 C T 8: 85,652,348 (GRCm39) V268I possibly damaging Het
Myh11 T G 16: 14,050,396 (GRCm39) E523A probably damaging Het
Napb T C 2: 148,539,431 (GRCm39) probably null Het
Nlrp4e G A 7: 23,000,858 (GRCm39) R51H probably damaging Het
Ola1 T C 2: 72,987,242 (GRCm39) D130G probably benign Het
Or8c13 A T 9: 38,091,919 (GRCm39) S67T possibly damaging Het
Pard3 G A 8: 128,115,972 (GRCm39) C687Y probably damaging Het
Rassf9 A G 10: 102,381,109 (GRCm39) T164A possibly damaging Het
Sema3a A G 5: 13,615,863 (GRCm39) Y429C probably damaging Het
Slc25a54 T C 3: 109,023,653 (GRCm39) V416A probably benign Het
Slc30a5 T C 13: 100,940,423 (GRCm39) T631A probably damaging Het
Sorl1 A T 9: 41,952,349 (GRCm39) C736S probably damaging Het
Tet3 A T 6: 83,345,074 (GRCm39) S1788T probably damaging Het
Trim42 A G 9: 97,247,868 (GRCm39) V276A probably benign 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
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
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