Incidental Mutation 'R0268:Gfral'
ID 35077
Institutional Source Beutler Lab
Gene Symbol Gfral
Ensembl Gene ENSMUSG00000059383
Gene Name GDNF family receptor alpha like
Synonyms GRAL
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R0268 (G1)
Quality Score 178
Status Validated
Chromosome 9
Chromosomal Location 76071389-76120939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76104383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 210 (C210S)
Ref Sequence ENSEMBL: ENSMUSP00000139120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074880] [ENSMUST00000184693]
AlphaFold Q6SJE0
Predicted Effect probably damaging
Transcript: ENSMUST00000074880
AA Change: C210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: C210S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
GDNF 24 99 4.05e0 SMART
GDNF 131 210 1.15e-19 SMART
GDNF 220 316 3.15e-17 SMART
transmembrane domain 351 370 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000184693
AA Change: C210S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139120
Gene: ENSMUSG00000059383
AA Change: C210S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
GDNF 24 99 4.05e0 SMART
GDNF 131 210 1.15e-19 SMART
Meta Mutation Damage Score 0.8800 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
MGI Phenotype PHENOTYPE: Homozygous knockout leads to increased susceptibility to diet-induced obesity caused by overeating and reduced glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K probably damaging Het
Other mutations in Gfral
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Gfral APN 9 76,072,107 (GRCm39) nonsense probably null
IGL02383:Gfral APN 9 76,104,374 (GRCm39) missense probably damaging 0.97
IGL02987:Gfral APN 9 76,104,583 (GRCm39) missense possibly damaging 0.82
IGL03002:Gfral APN 9 76,104,520 (GRCm39) missense possibly damaging 0.61
IGL03055:Gfral UTSW 9 76,115,831 (GRCm39) missense probably benign 0.00
PIT4585001:Gfral UTSW 9 76,104,576 (GRCm39) missense probably damaging 1.00
R0547:Gfral UTSW 9 76,115,924 (GRCm39) missense probably benign 0.16
R1146:Gfral UTSW 9 76,074,341 (GRCm39) missense probably benign 0.00
R1146:Gfral UTSW 9 76,074,341 (GRCm39) missense probably benign 0.00
R1275:Gfral UTSW 9 76,104,314 (GRCm39) missense probably damaging 1.00
R1830:Gfral UTSW 9 76,100,485 (GRCm39) missense probably benign 0.01
R2249:Gfral UTSW 9 76,100,631 (GRCm39) missense probably damaging 1.00
R3709:Gfral UTSW 9 76,100,725 (GRCm39) nonsense probably null
R4712:Gfral UTSW 9 76,100,727 (GRCm39) missense possibly damaging 0.71
R5567:Gfral UTSW 9 76,115,900 (GRCm39) missense probably benign 0.00
R5568:Gfral UTSW 9 76,072,087 (GRCm39) makesense probably null
R5719:Gfral UTSW 9 76,104,328 (GRCm39) missense probably benign 0.02
R5789:Gfral UTSW 9 76,104,328 (GRCm39) missense probably benign 0.02
R5791:Gfral UTSW 9 76,104,328 (GRCm39) missense probably benign 0.02
R7110:Gfral UTSW 9 76,072,112 (GRCm39) missense possibly damaging 0.84
R7549:Gfral UTSW 9 76,106,257 (GRCm39) missense probably benign 0.14
R7782:Gfral UTSW 9 76,100,572 (GRCm39) missense probably benign 0.43
R7851:Gfral UTSW 9 76,112,737 (GRCm39) missense probably benign 0.03
R9160:Gfral UTSW 9 76,104,372 (GRCm39) missense possibly damaging 0.83
R9568:Gfral UTSW 9 76,104,383 (GRCm39) missense probably damaging 1.00
Z1177:Gfral UTSW 9 76,112,671 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GATGACGGTGGGAACTCTAGCAATG -3'
(R):5'- GGGATGTTTTCTCCCCTAAAGCTCC -3'

Sequencing Primer
(F):5'- CTCTAGCAATGGAAGGAGATCAG -3'
(R):5'- AGTCATAGCAGCCTGGTTAC -3'
Posted On 2013-05-09