Incidental Mutation 'IGL02203:Gfra2'
ID 284413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfra2
Ensembl Gene ENSMUSG00000022103
Gene Name glial cell line derived neurotrophic factor family receptor alpha 2
Synonyms GFR alpha 2, GFR alpha-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL02203
Quality Score
Status
Chromosome 14
Chromosomal Location 71127560-71217278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71204524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 74 (M74K)
Ref Sequence ENSEMBL: ENSMUSP00000153937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227633] [ENSMUST00000227697]
AlphaFold O08842
Predicted Effect probably benign
Transcript: ENSMUST00000022699
AA Change: M331K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: M331K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
GDNF 40 117 1.76e-15 SMART
GDNF 161 241 3.7e-23 SMART
GDNF 251 347 1.74e-28 SMART
low complexity region 381 397 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000227633
AA Change: M74K

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000227697
AA Change: M198K

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is part of the receptor complex that transduces glial cell-derived neurotrophic factor and neurturin signals by mediating autophosphorylation and activation of the RET receptor. Mice lacking this protein are viable and fertile but display growth retardation attributed to impaired salivary and pancreatic secretion and innervation deficits in the intestinal tract. In addition, knockout mice display neural defects including a failure to initiate outgrowth of dorsal ganglion root neurons, demonstrating a requirement in neuronal differentiation of these cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants have dry eyes, poor postweaning growth associated with impaired parasympathetic cholinergic innervation of lacrimal and salivary glands and of small intestine, reduced skin thickness and accelerated hair follicle regression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 121,973,457 (GRCm39) D1095A probably benign Het
Acmsd T C 1: 127,666,342 (GRCm39) probably benign Het
Ap5m1 G A 14: 49,317,715 (GRCm39) G324D probably damaging Het
Api5 T G 2: 94,255,419 (GRCm39) N252T probably benign Het
Arhgap45 T A 10: 79,863,387 (GRCm39) C743* probably null Het
Clpb A G 7: 101,428,544 (GRCm39) T435A probably damaging Het
Csmd3 C T 15: 47,713,073 (GRCm39) probably null Het
Cyp3a11 T G 5: 145,805,976 (GRCm39) R130S probably damaging Het
Dennd4c A G 4: 86,721,173 (GRCm39) T612A probably benign Het
Dipk1a A G 5: 108,059,647 (GRCm39) L57S probably benign Het
Eng A G 2: 32,561,498 (GRCm39) I170V probably benign Het
Gpr137c A G 14: 45,514,944 (GRCm39) T268A possibly damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Il13ra2 A G X: 146,166,669 (GRCm39) L367P possibly damaging Het
Insr T C 8: 3,205,817 (GRCm39) H1324R probably benign Het
Lgi3 A G 14: 70,771,958 (GRCm39) E215G possibly damaging Het
Mst1r A G 9: 107,790,348 (GRCm39) T654A possibly damaging Het
Mst1r A G 9: 107,785,068 (GRCm39) Y242C probably damaging Het
Myo16 A T 8: 10,620,132 (GRCm39) Q1561L possibly damaging Het
Obscn A C 11: 58,973,134 (GRCm39) M2222R probably damaging Het
Or10ak13 A T 4: 118,639,626 (GRCm39) V52D possibly damaging Het
Or13p10 A T 4: 118,523,379 (GRCm39) I222F probably benign Het
Or2ag1 A G 7: 106,313,837 (GRCm39) I17T probably benign Het
Or5ap2 T G 2: 85,680,432 (GRCm39) F212C probably damaging Het
Or8b50 A G 9: 38,518,719 (GRCm39) probably benign Het
Plch1 G A 3: 63,606,160 (GRCm39) P1239L possibly damaging Het
Ptprm A T 17: 67,260,118 (GRCm39) I499K probably damaging Het
Rabep2 G T 7: 126,039,566 (GRCm39) R331L possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sema7a A G 9: 57,864,889 (GRCm39) T397A probably benign Het
Sftpc A C 14: 70,759,309 (GRCm39) M124R probably damaging Het
Slc25a38 A G 9: 119,949,878 (GRCm39) Y198C probably damaging Het
Sppl2a A T 2: 126,746,861 (GRCm39) M489K possibly damaging Het
Swt1 T A 1: 151,246,377 (GRCm39) K849N probably benign Het
Ttc3 T A 16: 94,219,457 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,553,432 (GRCm39) V608A probably benign Het
Vwf A G 6: 125,619,369 (GRCm39) Y1349C probably damaging Het
Ybx3 A G 6: 131,345,371 (GRCm39) V265A probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Gfra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Gfra2 APN 14 71,205,679 (GRCm39) splice site probably benign
IGL01303:Gfra2 APN 14 71,133,292 (GRCm39) missense probably benign 0.09
IGL01380:Gfra2 APN 14 71,204,586 (GRCm39) splice site probably benign
IGL01528:Gfra2 APN 14 71,203,738 (GRCm39) missense possibly damaging 0.95
IGL02270:Gfra2 APN 14 71,163,347 (GRCm39) missense possibly damaging 0.78
IGL03104:Gfra2 APN 14 71,205,725 (GRCm39) missense probably benign 0.00
IGL03270:Gfra2 APN 14 71,163,344 (GRCm39) missense possibly damaging 0.80
H8562:Gfra2 UTSW 14 71,215,818 (GRCm39) missense possibly damaging 0.94
H8786:Gfra2 UTSW 14 71,215,818 (GRCm39) missense possibly damaging 0.94
R0423:Gfra2 UTSW 14 71,133,521 (GRCm39) missense probably damaging 1.00
R4120:Gfra2 UTSW 14 71,203,715 (GRCm39) missense probably damaging 1.00
R4172:Gfra2 UTSW 14 71,133,521 (GRCm39) missense possibly damaging 0.80
R4712:Gfra2 UTSW 14 71,163,377 (GRCm39) missense probably damaging 1.00
R4804:Gfra2 UTSW 14 71,163,361 (GRCm39) missense possibly damaging 0.76
R4902:Gfra2 UTSW 14 71,204,455 (GRCm39) missense probably damaging 1.00
R5424:Gfra2 UTSW 14 71,133,287 (GRCm39) missense probably damaging 1.00
R6711:Gfra2 UTSW 14 71,203,715 (GRCm39) missense probably damaging 1.00
R7290:Gfra2 UTSW 14 71,163,380 (GRCm39) missense probably damaging 1.00
R7322:Gfra2 UTSW 14 71,205,831 (GRCm39) missense probably benign 0.00
R7814:Gfra2 UTSW 14 71,133,410 (GRCm39) missense probably damaging 1.00
R8159:Gfra2 UTSW 14 71,133,397 (GRCm39) missense probably damaging 0.98
R8557:Gfra2 UTSW 14 71,214,737 (GRCm39) missense probably benign 0.05
R8831:Gfra2 UTSW 14 71,204,503 (GRCm39) missense probably benign 0.02
R8833:Gfra2 UTSW 14 71,163,337 (GRCm39) missense probably damaging 1.00
R9072:Gfra2 UTSW 14 71,138,935 (GRCm39) missense possibly damaging 0.69
R9073:Gfra2 UTSW 14 71,138,935 (GRCm39) missense possibly damaging 0.69
R9444:Gfra2 UTSW 14 71,203,751 (GRCm39) missense possibly damaging 0.55
Z1177:Gfra2 UTSW 14 71,215,932 (GRCm39) missense not run
Posted On 2015-04-16