Incidental Mutation 'IGL02966:Gfra4'
ID365563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfra4
Ensembl Gene ENSMUSG00000027316
Gene Nameglial cell line derived neurotrophic factor family receptor alpha 4
SynonymsGFR alpha-4, G630015H18Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02966
Quality Score
Status
Chromosome2
Chromosomal Location131039632-131043088 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 131042640 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 15 (A15S)
Ref Sequence ENSEMBL: ENSMUSP00000105863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028787] [ENSMUST00000066958] [ENSMUST00000110234] [ENSMUST00000110235] [ENSMUST00000110239] [ENSMUST00000110240]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028787
AA Change: A15S

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028787
Gene: ENSMUSG00000027316
AA Change: A15S

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
GDNF 132 226 1.2e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066958
SMART Domains Protein: ENSMUSP00000068357
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
GDNF 26 111 6.76e-17 SMART
GDNF 123 217 1.2e-31 SMART
low complexity region 248 260 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110234
AA Change: A15S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105863
Gene: ENSMUSG00000027316
AA Change: A15S

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
low complexity region 132 147 N/A INTRINSIC
low complexity region 169 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110235
SMART Domains Protein: ENSMUSP00000105864
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GDNF 26 111 6.76e-17 SMART
low complexity region 123 138 N/A INTRINSIC
low complexity region 160 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110239
AA Change: A15S

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105868
Gene: ENSMUSG00000027316
AA Change: A15S

DomainStartEndE-ValueType
GDNF 35 120 6.76e-17 SMART
GDNF 132 226 1.2e-31 SMART
low complexity region 257 269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110240
SMART Domains Protein: ENSMUSP00000105869
Gene: ENSMUSG00000027316

DomainStartEndE-ValueType
GDNF 26 111 6.76e-17 SMART
GDNF 123 217 1.2e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184185
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for persephin, a member of the glial cell line derived neurotrophic factors. The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the receptor tyrosine kinase Ret. A complete lack of the encoded protein impairs production of thyroid calcitonin and increases the rate of bone formation in young mice. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations are mice were viable, fertile, showed no overt anatomical defects. Thyroid tissue calcitonin content was reduced in null homozygotes and rate of bone formation was enhanced when in 129/B6 hybrid background strain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 81,419,711 Y797N possibly damaging Het
Actbl2 G A 13: 111,255,572 G147E probably damaging Het
Adam18 A T 8: 24,611,149 probably benign Het
Ahcyl2 G A 6: 29,880,557 V175I probably benign Het
Alox12 T A 11: 70,250,085 T375S probably damaging Het
Batf2 C A 19: 6,171,789 Q210K probably damaging Het
Bicd1 T C 6: 149,483,996 S76P probably damaging Het
Bphl A T 13: 34,063,997 H251L probably damaging Het
C130074G19Rik C A 1: 184,882,746 E82D probably damaging Het
Calu A T 6: 29,356,585 K39* probably null Het
Capns1 T C 7: 30,192,193 D142G probably damaging Het
Ccr8 T C 9: 120,094,140 V107A probably damaging Het
Cep170b G A 12: 112,736,444 G447D possibly damaging Het
Chat C T 14: 32,448,946 V199M probably damaging Het
Cntnap1 G T 11: 101,184,749 V918L probably damaging Het
Cyp27a1 A G 1: 74,732,090 T145A probably benign Het
Dgkq T A 5: 108,656,421 probably null Het
Dnhd1 A G 7: 105,720,741 I4458V probably benign Het
Enpp1 T A 10: 24,660,274 E409D probably damaging Het
Fam78b G T 1: 167,078,888 L205F probably damaging Het
Foxr2 C A X: 153,130,681 R183S probably damaging Het
Ganc T C 2: 120,433,648 S361P probably damaging Het
Gm8011 A T 14: 42,466,000 D145V unknown Het
Gnb4 A G 3: 32,585,223 V307A probably benign Het
Hdac4 A T 1: 92,054,945 V17E possibly damaging Het
Herc6 G A 6: 57,583,333 probably null Het
Hivep3 A G 4: 120,132,186 T1945A probably benign Het
Ica1l A T 1: 60,010,139 N218K probably damaging Het
Kmt2b A T 7: 30,575,462 L1939Q probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
March8 C T 6: 116,403,538 R117C probably damaging Het
Megf6 T C 4: 154,253,777 S327P probably damaging Het
Mocos T G 18: 24,676,611 C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 W14R probably benign Het
Mysm1 A T 4: 94,975,286 D23E probably benign Het
Naa35 T A 13: 59,586,271 D34E probably benign Het
Nid1 A G 13: 13,482,221 I646V probably benign Het
Nupr1 T C 7: 126,624,901 probably benign Het
Olfr1449 A T 19: 12,934,800 I21F probably benign Het
Olfr171 G T 16: 19,624,301 H266Q probably damaging Het
Olfr875 T G 9: 37,773,586 L309R probably benign Het
Pcbp2 A C 15: 102,484,249 probably benign Het
Pde8b T C 13: 95,095,648 Q158R probably damaging Het
Pdzd8 T C 19: 59,300,859 Y703C probably damaging Het
Plxnb3 T C X: 73,765,283 S885P probably benign Het
Poc1b T A 10: 99,144,314 C136S probably damaging Het
Pole2 T C 12: 69,209,875 D292G probably damaging Het
Prpf39 T C 12: 65,042,779 V97A probably benign Het
Rbbp8 T A 18: 11,705,812 H183Q possibly damaging Het
Scn2a C T 2: 65,701,844 T600M possibly damaging Het
Spata32 T C 11: 103,208,803 Q292R possibly damaging Het
Sugp1 T C 8: 70,071,108 probably benign Het
Sult3a1 A C 10: 33,877,273 probably benign Het
Tpm3-rs7 C T 14: 113,315,378 Q235* probably null Het
Trbv2 A T 6: 41,047,751 T34S possibly damaging Het
Tssk6 A G 8: 69,902,885 Y193C probably benign Het
Ttn T C 2: 76,708,458 K34676R possibly damaging Het
Ugt3a2 T C 15: 9,370,068 Y433H probably damaging Het
Wdhd1 T C 14: 47,241,644 K1072E possibly damaging Het
Other mutations in Gfra4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Gfra4 APN 2 131040283 missense possibly damaging 0.82
R0625:Gfra4 UTSW 2 131040256 missense probably null 0.05
R2285:Gfra4 UTSW 2 131041731 missense probably damaging 1.00
Posted On2015-12-18