Incidental Mutation 'IGL02677:Gfra1'
ID 303171
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfra1
Ensembl Gene ENSMUSG00000025089
Gene Name glial cell line derived neurotrophic factor family receptor alpha 1
Synonyms GFR alpha-1, GDNFR-alpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02677
Quality Score
Status
Chromosome 19
Chromosomal Location 58224036-58444341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58441787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 48 (T48I)
Ref Sequence ENSEMBL: ENSMUSP00000122810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026076] [ENSMUST00000123957] [ENSMUST00000129100] [ENSMUST00000131877] [ENSMUST00000135730] [ENSMUST00000138530] [ENSMUST00000169850] [ENSMUST00000140141] [ENSMUST00000152507]
AlphaFold P97785
Predicted Effect probably damaging
Transcript: ENSMUST00000026076
AA Change: T48I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026076
Gene: ENSMUSG00000025089
AA Change: T48I

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 probably benign
Transcript: ENSMUST00000123957
Predicted Effect probably damaging
Transcript: ENSMUST00000129100
AA Change: T48I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117196
Gene: ENSMUSG00000025089
AA Change: T48I

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 probably damaging
Transcript: ENSMUST00000131877
AA Change: T48I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000135730
Predicted Effect probably damaging
Transcript: ENSMUST00000138530
AA Change: T48I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115239
Gene: ENSMUSG00000025089
AA Change: T48I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:GDNF 29 54 2e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000169850
AA Change: T48I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130128
Gene: ENSMUSG00000025089
AA Change: T48I

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 probably damaging
Transcript: ENSMUST00000140141
AA Change: T48I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123022
Gene: ENSMUSG00000025089
AA Change: T48I

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 probably damaging
Transcript: ENSMUST00000152507
AA Change: T48I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120333
Gene: ENSMUSG00000025089
AA Change: T48I

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
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign 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
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
R7718:Gfra1 UTSW 19 58,441,889 (GRCm39) missense possibly damaging 0.69
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
Posted On 2015-04-16