Incidental Mutation 'IGL01380:Gfra2'
ID 78843
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 # IGL01380
Quality Score
Status
Chromosome 14
Chromosomal Location 71127560-71217278 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 71204586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227633] [ENSMUST00000227697]
AlphaFold O08842
Predicted Effect probably benign
Transcript: ENSMUST00000022699
SMART Domains Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103

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 probably benign
Transcript: ENSMUST00000227633
Predicted Effect probably benign
Transcript: ENSMUST00000227697
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,840,053 (GRCm39) T42A probably benign Het
Abcc10 C A 17: 46,634,948 (GRCm39) V352L possibly damaging Het
Ankrd44 A T 1: 54,766,724 (GRCm39) M488K probably benign Het
Ano8 A G 8: 71,933,453 (GRCm39) probably benign Het
Atp2a1 T A 7: 126,047,942 (GRCm39) M623L possibly damaging Het
Atxn10 G T 15: 85,260,896 (GRCm39) E214* probably null Het
Btla A C 16: 45,070,716 (GRCm39) D225A probably benign Het
C030048H21Rik G A 2: 26,146,659 (GRCm39) Q1218* probably null Het
Cacna1a A G 8: 85,285,746 (GRCm39) Y750C probably damaging Het
Ccdc15 A T 9: 37,187,853 (GRCm39) probably benign Het
Ccdc18 T A 5: 108,328,753 (GRCm39) I724N probably damaging Het
Cluh T A 11: 74,556,772 (GRCm39) F937L probably benign Het
Clybl G T 14: 122,616,761 (GRCm39) A259S probably benign Het
Cyp4f39 T G 17: 32,700,832 (GRCm39) I167S probably damaging Het
Dchs1 T A 7: 105,411,418 (GRCm39) D1566V probably damaging Het
Dnah3 C T 7: 119,525,787 (GRCm39) A3867T probably damaging Het
Dtwd1 T A 2: 126,001,847 (GRCm39) L189Q probably benign Het
Dusp10 T C 1: 183,801,211 (GRCm39) I326T possibly damaging Het
Eaf1 T A 14: 31,219,767 (GRCm39) probably benign Het
Eif3c C T 7: 126,163,585 (GRCm39) probably benign Het
Fam169a C T 13: 97,228,459 (GRCm39) T44M probably damaging Het
Fam184a T C 10: 53,570,782 (GRCm39) probably benign Het
Fam25a C T 14: 34,075,655 (GRCm39) A46T probably null Het
Gckr A G 5: 31,456,977 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,703 (GRCm38) probably null Het
H2-Eb2 G T 17: 34,554,783 (GRCm39) L228F probably benign Het
Igf2r T C 17: 12,914,261 (GRCm39) N1736S probably benign Het
Izumo1 T G 7: 45,276,519 (GRCm39) S361A probably benign Het
Klri1 T C 6: 129,675,761 (GRCm39) I170V probably benign Het
L3mbtl2 C T 15: 81,555,326 (GRCm39) A193V possibly damaging Het
Lats1 T A 10: 7,567,544 (GRCm39) M105K possibly damaging Het
Lrpprc T C 17: 85,030,158 (GRCm39) D1080G probably benign Het
Lrrc74a A T 12: 86,808,496 (GRCm39) M425L possibly damaging Het
Mfsd13a G T 19: 46,356,347 (GRCm39) D151Y probably damaging Het
Mst1 G A 9: 107,961,787 (GRCm39) E640K probably damaging Het
Napsa T C 7: 44,236,098 (GRCm39) V379A probably damaging Het
Or1e16 A T 11: 73,286,017 (GRCm39) M277K probably damaging Het
Or55b4 C T 7: 102,133,592 (GRCm39) C245Y probably damaging Het
Or7c19 C A 8: 85,957,775 (GRCm39) S217Y probably damaging Het
Or7c19 A T 8: 85,957,958 (GRCm39) Y278F possibly damaging Het
Otop3 T C 11: 115,237,237 (GRCm39) V567A probably damaging Het
Oxsr1 A T 9: 119,089,167 (GRCm39) probably benign Het
Pak2 A T 16: 31,860,362 (GRCm39) V167E probably benign Het
Pcdhb16 A G 18: 37,612,498 (GRCm39) H486R probably benign Het
Plekha5 C T 6: 140,516,042 (GRCm39) probably benign Het
Rbm6 T C 9: 107,665,548 (GRCm39) D616G probably damaging Het
Sf3b1 T C 1: 55,027,108 (GRCm39) Y1249C probably damaging Het
Sipa1l3 T C 7: 29,030,797 (GRCm39) H534R possibly damaging Het
Slco1c1 T C 6: 141,485,777 (GRCm39) Y136H probably damaging Het
Smarca4 A G 9: 21,590,369 (GRCm39) M1333V probably benign Het
Smc4 A G 3: 68,933,161 (GRCm39) D54G probably damaging Het
Spag5 T A 11: 78,195,443 (GRCm39) V250E possibly damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Suv39h2 T A 2: 3,465,296 (GRCm39) probably benign Het
Taar8b T A 10: 23,968,005 (GRCm39) H63L probably damaging Het
Tex2 G A 11: 106,435,141 (GRCm39) Q264* probably null Het
Thnsl2 A C 6: 71,115,740 (GRCm39) S156A probably benign Het
Tmtc4 G T 14: 123,163,366 (GRCm39) probably benign Het
Usp25 T C 16: 76,890,566 (GRCm39) L758P probably benign Het
Zfyve1 G A 12: 83,599,281 (GRCm39) R144C probably damaging Het
Zpld1 A G 16: 55,072,133 (GRCm39) V42A probably 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
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
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 2013-11-05