Incidental Mutation 'R7718:Gfra1'
ID 595081
Institutional Source Beutler Lab
Gene Symbol Gfra1
Ensembl Gene ENSMUSG00000025089
Gene Name glial cell line derived neurotrophic factor family receptor alpha 1
Synonyms GFR alpha-1, GDNFR-alpha
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 58224036-58444341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58441889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 14 (D14G)
Ref Sequence ENSEMBL: ENSMUSP00000026076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026076] [ENSMUST00000123957] [ENSMUST00000129100] [ENSMUST00000131877] [ENSMUST00000135730] [ENSMUST00000138530] [ENSMUST00000140141] [ENSMUST00000152507] [ENSMUST00000169850]
AlphaFold P97785
Predicted Effect possibly damaging
Transcript: ENSMUST00000026076
AA Change: D14G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026076
Gene: ENSMUSG00000025089
AA Change: D14G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GDNF 29 111 1.96e-13 SMART
GDNF 154 233 6.55e-24 SMART
GDNF 243 337 1.62e-28 SMART
low complexity region 362 370 N/A INTRINSIC
low complexity region 455 465 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123957
AA Change: D14G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000129100
AA Change: D14G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117196
Gene: ENSMUSG00000025089
AA Change: D14G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GDNF 29 111 1.96e-13 SMART
GDNF 149 228 6.55e-24 SMART
GDNF 238 332 1.62e-28 SMART
low complexity region 357 365 N/A INTRINSIC
low complexity region 450 460 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131877
AA Change: D14G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000135730
Predicted Effect possibly damaging
Transcript: ENSMUST00000138530
AA Change: D14G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115239
Gene: ENSMUSG00000025089
AA Change: D14G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:GDNF 29 54 2e-10 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000140141
AA Change: D14G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123022
Gene: ENSMUSG00000025089
AA Change: D14G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GDNF 29 111 1.96e-13 SMART
GDNF 154 233 6.55e-24 SMART
GDNF 243 337 1.62e-28 SMART
low complexity region 362 370 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000152507
AA Change: D14G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120333
Gene: ENSMUSG00000025089
AA Change: D14G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GDNF 29 111 1.96e-13 SMART
GDNF 154 233 6.55e-24 SMART
GDNF 243 337 1.62e-28 SMART
low complexity region 362 370 N/A INTRINSIC
low complexity region 455 465 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169850
AA Change: D14G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130128
Gene: ENSMUSG00000025089
AA Change: D14G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GDNF 29 111 1.96e-13 SMART
GDNF 154 233 6.55e-24 SMART
GDNF 243 337 1.62e-28 SMART
low complexity region 362 370 N/A INTRINSIC
low complexity region 455 465 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Gfra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Gfra1 APN 19 58,252,337 (GRCm39) splice site probably benign
IGL01633:Gfra1 APN 19 58,255,479 (GRCm39) missense probably benign 0.41
IGL02675:Gfra1 APN 19 58,441,787 (GRCm39) missense probably damaging 1.00
IGL02676:Gfra1 APN 19 58,441,787 (GRCm39) missense probably damaging 1.00
IGL02677:Gfra1 APN 19 58,441,787 (GRCm39) missense probably damaging 1.00
IGL02723:Gfra1 APN 19 58,441,683 (GRCm39) missense probably benign 0.00
3-1:Gfra1 UTSW 19 58,286,999 (GRCm39) intron probably benign
R0245:Gfra1 UTSW 19 58,288,986 (GRCm39) missense possibly damaging 0.72
R0652:Gfra1 UTSW 19 58,288,986 (GRCm39) missense possibly damaging 0.72
R0697:Gfra1 UTSW 19 58,258,555 (GRCm39) missense probably benign
R0699:Gfra1 UTSW 19 58,258,555 (GRCm39) missense probably benign
R1344:Gfra1 UTSW 19 58,226,849 (GRCm39) missense possibly damaging 0.88
R1418:Gfra1 UTSW 19 58,226,849 (GRCm39) missense possibly damaging 0.88
R1468:Gfra1 UTSW 19 58,440,407 (GRCm39) missense probably benign 0.00
R1468:Gfra1 UTSW 19 58,440,407 (GRCm39) missense probably benign 0.00
R2001:Gfra1 UTSW 19 58,288,707 (GRCm39) missense probably damaging 1.00
R2866:Gfra1 UTSW 19 58,227,739 (GRCm39) missense possibly damaging 0.93
R3416:Gfra1 UTSW 19 58,255,544 (GRCm39) missense probably damaging 1.00
R4352:Gfra1 UTSW 19 58,255,456 (GRCm39) missense probably benign 0.08
R4564:Gfra1 UTSW 19 58,227,682 (GRCm39) splice site probably null
R4727:Gfra1 UTSW 19 58,252,386 (GRCm39) missense probably damaging 0.96
R4755:Gfra1 UTSW 19 58,441,676 (GRCm39) missense probably damaging 1.00
R4914:Gfra1 UTSW 19 58,255,522 (GRCm39) missense probably damaging 1.00
R4915:Gfra1 UTSW 19 58,255,522 (GRCm39) missense probably damaging 1.00
R4917:Gfra1 UTSW 19 58,255,522 (GRCm39) missense probably damaging 1.00
R5813:Gfra1 UTSW 19 58,227,687 (GRCm39) missense probably benign
R6225:Gfra1 UTSW 19 58,226,830 (GRCm39) missense probably damaging 1.00
R7023:Gfra1 UTSW 19 58,442,764 (GRCm39) missense probably damaging 1.00
R7485:Gfra1 UTSW 19 58,288,744 (GRCm39) missense probably damaging 1.00
R7624:Gfra1 UTSW 19 58,226,878 (GRCm39) missense probably benign
R9659:Gfra1 UTSW 19 58,441,652 (GRCm39) missense probably damaging 1.00
R9788:Gfra1 UTSW 19 58,441,652 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTCAAGGCCTCCATAGC -3'
(R):5'- GAACCTTCCTTGTTGAGCCG -3'

Sequencing Primer
(F):5'- GCTGCGGCACTCATCCTTG -3'
(R):5'- CCTTGTTGAGCCGGGGAG -3'
Posted On 2019-11-12