Incidental Mutation 'IGL03104:Gfra2'
ID 418880
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 # IGL03104
Quality Score
Status
Chromosome 14
Chromosomal Location 71127560-71217278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71205725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 106 (M106L)
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: M363L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: M363L

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
AA Change: M106L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000227697
AA Change: M230L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 C A 1: 58,321,918 (GRCm39) T70K probably benign Het
Armt1 T A 10: 4,389,615 (GRCm39) Y91N possibly damaging Het
Atp1a2 A G 1: 172,120,934 (GRCm39) L46S probably damaging Het
Baz1a A G 12: 54,941,743 (GRCm39) S1488P probably damaging Het
Coro7 T A 16: 4,446,990 (GRCm39) E793V probably damaging Het
Ctnnbl1 G T 2: 157,732,885 (GRCm39) R555L probably damaging Het
Dclk2 A G 3: 86,743,666 (GRCm39) C268R probably damaging Het
Dock7 A T 4: 98,847,260 (GRCm39) M1684K possibly damaging Het
Dock8 T A 19: 25,178,384 (GRCm39) C2092* probably null Het
Dtx1 T A 5: 120,833,030 (GRCm39) Q136L possibly damaging Het
Egln3 C T 12: 54,249,981 (GRCm39) probably benign Het
Eml5 A T 12: 98,827,504 (GRCm39) Y575* probably null Het
Entpd5 A T 12: 84,431,022 (GRCm39) V310E probably damaging Het
Fkbp5 A G 17: 28,634,946 (GRCm39) F188L probably damaging Het
Frrs1 T C 3: 116,675,431 (GRCm39) S120P probably benign Het
Gadl1 T C 9: 115,903,108 (GRCm39) I479T possibly damaging Het
Gm17455 T A 10: 60,239,060 (GRCm39) C108* probably null Het
Grhpr A G 4: 44,983,867 (GRCm39) probably benign Het
Hsp90ab1 G A 17: 45,882,449 (GRCm39) R82C probably damaging Het
Igsf10 T C 3: 59,226,905 (GRCm39) Y2256C probably damaging Het
Ivd A T 2: 118,703,384 (GRCm39) I160F probably benign Het
Krtap5-5 A G 7: 141,783,450 (GRCm39) C67R unknown Het
Lhx4 A T 1: 155,580,967 (GRCm39) V186E probably damaging Het
Lrrk2 T C 15: 91,631,958 (GRCm39) I1294T possibly damaging Het
Map3k5 C T 10: 20,007,801 (GRCm39) S1202L probably benign Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Mov10 G A 3: 104,704,623 (GRCm39) R763W probably damaging Het
Mto1 T C 9: 78,356,802 (GRCm39) S106P probably damaging Het
Naca C T 10: 127,876,233 (GRCm39) probably benign Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or8s10 A G 15: 98,336,127 (GRCm39) Y259C possibly damaging Het
Pan2 T C 10: 128,151,532 (GRCm39) probably benign Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Sipa1l1 T A 12: 82,388,904 (GRCm39) S377T probably benign Het
Sirpd G T 3: 15,397,283 (GRCm39) probably benign Het
Slc36a3 A G 11: 55,015,946 (GRCm39) S403P probably damaging Het
Slc4a4 A G 5: 89,297,231 (GRCm39) T480A probably damaging Het
Slu7 G A 11: 43,332,883 (GRCm39) V315I probably benign Het
St6galnac3 T C 3: 152,911,115 (GRCm39) E282G probably damaging Het
Tlr12 A G 4: 128,509,685 (GRCm39) V855A probably benign Het
Tut7 T C 13: 59,962,717 (GRCm39) D350G probably benign Het
Vmn1r53 T A 6: 90,200,944 (GRCm39) K127* probably null Het
Vmn1r72 T G 7: 11,403,812 (GRCm39) H212P probably damaging Het
Vmn2r86 T A 10: 130,282,501 (GRCm39) Q705L probably damaging Het
Vps33b C T 7: 79,925,831 (GRCm39) R93C probably damaging Het
Wdr91 T A 6: 34,882,491 (GRCm39) E219D probably benign Het
Zan G A 5: 137,461,762 (GRCm39) T1139I unknown Het
Zc3hav1 T A 6: 38,317,278 (GRCm39) K107N probably damaging Het
Zmym2 A G 14: 57,187,784 (GRCm39) E1150G 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
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 2016-08-02