Incidental Mutation 'R9077:Glyctk'
ID 689854
Institutional Source Beutler Lab
Gene Symbol Glyctk
Ensembl Gene ENSMUSG00000020258
Gene Name glycerate kinase
Synonyms 6230410P16Rik
MMRRC Submission 068898-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9077 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106030056-106035337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106032522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 497 (R497L)
Ref Sequence ENSEMBL: ENSMUSP00000047761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036382] [ENSMUST00000112543] [ENSMUST00000159809] [ENSMUST00000162562] [ENSMUST00000217417]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036382
AA Change: R497L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047761
Gene: ENSMUSG00000020258
AA Change: R497L

DomainStartEndE-ValueType
Pfam:DUF4147 36 291 1.9e-84 PFAM
low complexity region 363 383 N/A INTRINSIC
Pfam:MOFRL 401 514 3.7e-38 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000108162
Gene: ENSMUSG00000020258
AA Change: R497L

DomainStartEndE-ValueType
Pfam:DUF4147 37 290 1.6e-86 PFAM
low complexity region 363 383 N/A INTRINSIC
Pfam:MOFRL 402 514 7.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159809
SMART Domains Protein: ENSMUSP00000125369
Gene: ENSMUSG00000020258

DomainStartEndE-ValueType
Pfam:DUF4147 36 92 8.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162562
SMART Domains Protein: ENSMUSP00000125392
Gene: ENSMUSG00000020258

DomainStartEndE-ValueType
Pfam:DUF4147 36 124 6.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217417
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Alkbh3 A G 2: 93,811,925 (GRCm39) V235A probably damaging Het
Arfgef2 A G 2: 166,706,721 (GRCm39) I982V probably damaging Het
Arfgef3 T C 10: 18,500,899 (GRCm39) D1117G possibly damaging Het
Arhgap31 G T 16: 38,422,730 (GRCm39) A1112D probably damaging Het
Arhgef4 T C 1: 34,760,824 (GRCm39) C27R unknown Het
Bzw1 T A 1: 58,438,190 (GRCm39) M90K probably benign Het
Cdk17 T C 10: 93,068,277 (GRCm39) Y345H probably damaging Het
Cip2a A G 16: 48,827,511 (GRCm39) I459V probably benign Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Ctsw T C 19: 5,516,431 (GRCm39) D173G probably benign Het
Dnah6 A T 6: 73,121,029 (GRCm39) C1488* probably null Het
Dnah7a T C 1: 53,741,218 (GRCm39) K13E unknown Het
Eif3f A G 7: 108,539,425 (GRCm39) M232V probably benign Het
Gk5 C A 9: 96,001,634 (GRCm39) T44K probably benign Het
Glrb A G 3: 80,763,217 (GRCm39) F260S probably damaging Het
Gm10153 G T 7: 141,743,383 (GRCm39) C248* probably null Het
Hand2 A G 8: 57,776,836 (GRCm39) K199E probably damaging Het
Heatr1 T A 13: 12,428,247 (GRCm39) C795S probably benign Het
Il31ra T C 13: 112,670,361 (GRCm39) I342M probably benign Het
Itm2b G T 14: 73,605,865 (GRCm39) D40E probably benign Het
Ksr1 T C 11: 78,927,552 (GRCm39) T371A probably damaging Het
Lctl C A 9: 64,039,241 (GRCm39) probably benign Het
Lpin1 G A 12: 16,591,747 (GRCm39) P827S Het
Lyst T C 13: 13,857,693 (GRCm39) I2494T probably benign Het
Mia2 A G 12: 59,226,760 (GRCm39) N510S possibly damaging Het
Mycbp2 T C 14: 103,469,974 (GRCm39) D1308G probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Omt2b T C 9: 78,235,548 (GRCm39) probably null Het
Or2j6 G A 7: 139,980,809 (GRCm39) P50L probably benign Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Or56b1 A G 7: 104,285,618 (GRCm39) T246A probably damaging Het
Pan2 A G 10: 128,148,856 (GRCm39) Y490C probably damaging Het
Pard6g A G 18: 80,160,772 (GRCm39) E295G probably damaging Het
Pcdhb8 T C 18: 37,489,414 (GRCm39) V23A probably damaging Het
Phactr3 A T 2: 177,974,758 (GRCm39) probably benign Het
Pip G A 6: 41,828,388 (GRCm39) S74N probably damaging Het
Plau G A 14: 20,889,949 (GRCm39) E265K probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Rcor3 C T 1: 191,807,865 (GRCm39) D230N probably damaging Het
Siglec15 A G 18: 78,091,983 (GRCm39) Y73H possibly damaging Het
Spag16 T A 1: 70,532,930 (GRCm39) probably benign Het
Spta1 G T 1: 174,045,170 (GRCm39) D1506Y probably damaging Het
Tacr3 A T 3: 134,635,711 (GRCm39) Y305F probably benign Het
Tcstv7a T C 13: 120,289,885 (GRCm39) M104V probably benign Het
Vmn1r83 G A 7: 12,055,571 (GRCm39) T162M probably damaging Het
Vmn2r116 G T 17: 23,604,956 (GRCm39) D90Y probably benign Het
Wdr76 A G 2: 121,364,608 (GRCm39) N304S probably benign Het
Wee1 G A 7: 109,725,963 (GRCm39) V358I probably damaging Het
Zan G A 5: 137,401,468 (GRCm39) P4084S unknown Het
Other mutations in Glyctk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Glyctk APN 9 106,032,471 (GRCm39) missense probably damaging 1.00
IGL02307:Glyctk APN 9 106,032,963 (GRCm39) missense possibly damaging 0.64
IGL02581:Glyctk APN 9 106,034,980 (GRCm39) missense probably benign
R0106:Glyctk UTSW 9 106,033,168 (GRCm39) missense probably benign 0.00
R1465:Glyctk UTSW 9 106,034,806 (GRCm39) missense probably damaging 1.00
R1465:Glyctk UTSW 9 106,034,806 (GRCm39) missense probably damaging 1.00
R1652:Glyctk UTSW 9 106,034,356 (GRCm39) missense probably damaging 1.00
R1859:Glyctk UTSW 9 106,034,731 (GRCm39) missense probably benign 0.08
R1870:Glyctk UTSW 9 106,032,547 (GRCm39) missense probably damaging 1.00
R1962:Glyctk UTSW 9 106,035,064 (GRCm39) start codon destroyed probably null 0.99
R3875:Glyctk UTSW 9 106,034,820 (GRCm39) missense probably damaging 1.00
R4167:Glyctk UTSW 9 106,034,961 (GRCm39) missense probably benign 0.01
R4407:Glyctk UTSW 9 106,034,307 (GRCm39) intron probably benign
R5860:Glyctk UTSW 9 106,032,906 (GRCm39) missense possibly damaging 0.54
R6167:Glyctk UTSW 9 106,033,691 (GRCm39) missense possibly damaging 0.75
R6240:Glyctk UTSW 9 106,033,461 (GRCm39) splice site probably null
R7253:Glyctk UTSW 9 106,032,661 (GRCm39) missense probably damaging 1.00
R7889:Glyctk UTSW 9 106,033,638 (GRCm39) missense unknown
R8128:Glyctk UTSW 9 106,032,501 (GRCm39) missense probably benign 0.03
R8161:Glyctk UTSW 9 106,034,892 (GRCm39) missense probably benign 0.10
R8407:Glyctk UTSW 9 106,033,141 (GRCm39) missense probably benign 0.06
X0004:Glyctk UTSW 9 106,032,918 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCCATCTTCTAATCTAGTTGGGG -3'
(R):5'- ACTGGGACCTATTGATGTGC -3'

Sequencing Primer
(F):5'- CTTCTAATCTAGTTGGGGGAACAAGC -3'
(R):5'- GCTATTTTTGAGTGGAGGCAC -3'
Posted On 2021-11-19