Incidental Mutation 'IGL03270:Gfra2'
ID 415233
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 # IGL03270
Quality Score
Status
Chromosome 14
Chromosomal Location 71127560-71217278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71163344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 209 (D209G)
Ref Sequence ENSEMBL: ENSMUSP00000022699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227697]
AlphaFold O08842
Predicted Effect possibly damaging
Transcript: ENSMUST00000022699
AA Change: D209G

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: D209G

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: ENSMUST00000227697
AA Change: D76G

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,440,071 (GRCm39) probably null Het
Fcmr A T 1: 130,803,779 (GRCm39) R194S possibly damaging Het
Fmo2 A G 1: 162,709,595 (GRCm39) F264S probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c A G 18: 60,378,548 (GRCm39) K28E probably benign Het
Kifap3 T A 1: 163,676,302 (GRCm39) M419K probably benign Het
Lgr6 A C 1: 134,925,442 (GRCm39) I133S probably damaging Het
Med13l A C 5: 118,869,495 (GRCm39) N811T probably damaging Het
Or4c118 A G 2: 88,975,089 (GRCm39) F93L probably damaging Het
Or6k2 T A 1: 173,987,119 (GRCm39) M260K probably benign Het
Pappa2 T A 1: 158,592,637 (GRCm39) D1580V possibly damaging Het
Ppp4r2 T G 6: 100,840,086 (GRCm39) N72K probably damaging Het
Prr27 T C 5: 87,983,537 (GRCm39) probably benign Het
Rad51d A G 11: 82,772,420 (GRCm39) probably benign Het
Rel T C 11: 23,692,584 (GRCm39) N483S probably benign Het
Scn9a A G 2: 66,314,358 (GRCm39) F1776L probably damaging Het
Slco5a1 G A 1: 12,942,252 (GRCm39) T798I probably benign Het
Ttn T C 2: 76,606,811 (GRCm39) D18033G probably damaging Het
Vmn1r46 T A 6: 89,953,756 (GRCm39) S202T probably damaging Het
Vmn2r110 T G 17: 20,803,778 (GRCm39) M266L probably benign Het
Vmn2r26 A T 6: 124,027,778 (GRCm39) D506V probably benign Het
Zbtb1 T C 12: 76,432,289 (GRCm39) S92P possibly damaging 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
IGL02203:Gfra2 APN 14 71,204,524 (GRCm39) missense possibly damaging 0.69
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
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 2016-08-02