Incidental Mutation 'R6711:Gfra2'
ID 529148
Institutional Source Beutler Lab
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
MMRRC Submission 044829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R6711 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 71127560-71217278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71203715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 31 (D31G)
Ref Sequence ENSEMBL: ENSMUSP00000153937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022699] [ENSMUST00000227633] [ENSMUST00000227697]
AlphaFold O08842
Predicted Effect probably damaging
Transcript: ENSMUST00000022699
AA Change: D288G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: D288G

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 damaging
Transcript: ENSMUST00000227633
AA Change: D31G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227697
AA Change: D155G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.3278 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,627,374 (GRCm39) D156G probably damaging Het
Ankrd35 C T 3: 96,590,784 (GRCm39) Q357* probably null Het
Ano2 G A 6: 125,752,795 (GRCm39) A191T probably damaging Het
Cacna2d1 C T 5: 16,505,039 (GRCm39) T331I probably damaging Het
Ccdc81 T G 7: 89,537,006 (GRCm39) E214A probably damaging Het
Cdh4 A G 2: 179,532,724 (GRCm39) T729A probably damaging Het
Ceacam2 A G 7: 25,238,295 (GRCm39) L43P probably benign Het
Ces2h A T 8: 105,744,715 (GRCm39) R364S probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Entrep1 T C 19: 23,955,463 (GRCm39) N385S probably benign Het
Epb42 T A 2: 120,854,589 (GRCm39) probably benign Het
Fcgbp G A 7: 27,789,098 (GRCm39) V555M probably damaging Het
Ganc A T 2: 120,281,320 (GRCm39) H723L possibly damaging Het
Glrb A G 3: 80,752,281 (GRCm39) I443T probably benign Het
Hcfc1 A T X: 72,993,671 (GRCm39) C1165S probably damaging Homo
Hoxd10 A G 2: 74,524,507 (GRCm39) Y273C probably damaging Het
Iba57 T C 11: 59,049,369 (GRCm39) T267A probably damaging Het
Impg2 C A 16: 56,085,449 (GRCm39) P943H probably damaging Het
Kidins220 A G 12: 25,048,750 (GRCm39) T145A probably damaging Het
Lmntd1 T C 6: 145,489,228 (GRCm39) Y11C probably benign Het
Lyst A T 13: 13,809,820 (GRCm39) T497S possibly damaging Het
Man1a G A 10: 53,809,588 (GRCm39) H406Y probably benign Het
Mme A T 3: 63,249,339 (GRCm39) K289N possibly damaging Het
Mrps21 G A 3: 95,777,895 (GRCm39) probably benign Het
Mtor A G 4: 148,536,824 (GRCm39) N33D possibly damaging Het
Ncoa1 C A 12: 4,372,904 (GRCm39) A166S probably benign Het
Ndrg2 A T 14: 52,147,782 (GRCm39) F112I possibly damaging Het
Neb A C 2: 52,113,076 (GRCm39) F36C probably benign Het
Neb A G 2: 52,146,299 (GRCm39) Y2893H probably damaging Het
Or8g22 A G 9: 38,958,162 (GRCm39) *229Q probably null Het
Pcdh15 A T 10: 74,478,219 (GRCm39) E231D possibly damaging Het
Pih1d2 T A 9: 50,529,310 (GRCm39) M1K probably null Het
Pla2g4e T C 2: 120,001,751 (GRCm39) N633D probably benign Het
Rph3al C A 11: 75,799,810 (GRCm39) G50* probably null Het
Rtcb A T 10: 85,774,963 (GRCm39) N477K possibly damaging Het
Scn10a A G 9: 119,438,979 (GRCm39) F1630S probably damaging Het
Srfbp1 T C 18: 52,621,373 (GRCm39) S145P probably damaging Het
St7 A G 6: 17,848,069 (GRCm39) E211G possibly damaging Het
Thbs2 T C 17: 14,910,527 (GRCm39) D24G probably benign Het
Tlr6 C A 5: 65,111,835 (GRCm39) M357I probably damaging Het
Tmem168 T C 6: 13,603,120 (GRCm39) Y82C probably damaging Het
Tnrc18 A T 5: 142,773,545 (GRCm39) L245Q unknown Het
Vmn1r8 T C 6: 57,013,444 (GRCm39) L165P probably damaging Het
Vps13b A G 15: 35,887,395 (GRCm39) Y3268C probably damaging Het
Zdhhc7 A G 8: 120,810,066 (GRCm39) I218T probably benign Het
Zfp213 A G 17: 23,778,485 (GRCm39) F209S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AATTGCACTATGCCCAGCTC -3'
(R):5'- GCAAGGTTATGCTGTCAATCTC -3'

Sequencing Primer
(F):5'- TATGCCCAGCTCCATAGGC -3'
(R):5'- AAGGTTATGCTGTCAATCTCCCAAC -3'
Posted On 2018-07-24