Incidental Mutation 'R4870:Galk2'
ID 376479
Institutional Source Beutler Lab
Gene Symbol Galk2
Ensembl Gene ENSMUSG00000027207
Gene Name galactokinase 2
Synonyms 2810017M24Rik, Gk2
MMRRC Submission 042480-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4870 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 125701029-125826218 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to G at 125771557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 194 (S194*)
Ref Sequence ENSEMBL: ENSMUSP00000092186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028636] [ENSMUST00000094604] [ENSMUST00000131643] [ENSMUST00000134337]
AlphaFold Q68FH4
Predicted Effect probably null
Transcript: ENSMUST00000028636
AA Change: S183*
SMART Domains Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: S183*

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 13 62 3.8e-26 PFAM
Pfam:GHMP_kinases_N 120 187 1e-15 PFAM
Pfam:GHMP_kinases_C 333 419 6.9e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000094604
AA Change: S194*
SMART Domains Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: S194*

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 24 73 3.2e-25 PFAM
Pfam:GHMP_kinases_N 131 198 4.8e-15 PFAM
Pfam:GHMP_kinases_C 344 430 3.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110454
Predicted Effect probably benign
Transcript: ENSMUST00000131643
Predicted Effect probably benign
Transcript: ENSMUST00000134337
SMART Domains Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 34 85 4.9e-26 PFAM
Pfam:GHMP_kinases_N 142 182 1.5e-10 PFAM
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,069,540 (GRCm39) I1285N probably damaging Het
Abcc8 G A 7: 45,756,683 (GRCm39) R721* probably null Het
Alox8 T C 11: 69,077,394 (GRCm39) Y423C probably damaging Het
Ankle2 T A 5: 110,399,344 (GRCm39) probably null Het
Cdc14a A G 3: 116,217,109 (GRCm39) I9T probably benign Het
Ceacam18 T C 7: 43,291,328 (GRCm39) C257R probably damaging Het
Cilp T C 9: 65,186,980 (GRCm39) V1025A probably damaging Het
Clcn7 G T 17: 25,372,539 (GRCm39) probably benign Het
Csnk1d A T 11: 120,874,014 (GRCm39) probably benign Het
Cyp11b2 A G 15: 74,724,995 (GRCm39) S285P probably benign Het
Dip2b T A 15: 100,093,665 (GRCm39) probably null Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dnajc14 T C 10: 128,653,219 (GRCm39) V684A probably benign Het
Dnmt3b A G 2: 153,512,284 (GRCm39) Q335R probably benign Het
Exoc3l2 T A 7: 19,229,117 (GRCm39) C772S unknown Het
F2rl1 A T 13: 95,650,492 (GRCm39) F130Y probably damaging Het
Garre1 C A 7: 33,984,312 (GRCm39) V104L possibly damaging Het
Gpbp1l1 A G 4: 116,430,714 (GRCm39) T62A probably benign Het
H2-Q10 A T 17: 35,781,357 (GRCm39) D53V probably damaging Het
H2-T22 T C 17: 36,349,924 (GRCm39) K356R probably benign Het
Insrr G A 3: 87,718,911 (GRCm39) V956M probably damaging Het
Ints7 A G 1: 191,328,443 (GRCm39) T239A probably damaging Het
Isl1 A G 13: 116,444,806 (GRCm39) probably benign Het
Kcng2 A G 18: 80,366,083 (GRCm39) C90R probably benign Het
Kif3c C T 12: 3,451,735 (GRCm39) P171S probably damaging Het
Knl1 A G 2: 118,911,994 (GRCm39) T1704A probably benign Het
Lats1 A G 10: 7,581,549 (GRCm39) Y778C probably damaging Het
Limd2 T C 11: 106,050,215 (GRCm39) M1V probably null Het
Mcm10 A T 2: 5,008,970 (GRCm39) I333N probably damaging Het
Mipep T A 14: 61,040,329 (GRCm39) L283* probably null Het
Mixl1 A G 1: 180,522,237 (GRCm39) S215P probably benign Het
Mmp21 A G 7: 133,280,406 (GRCm39) L188P probably damaging Het
Mob1a T C 6: 83,317,221 (GRCm39) S213P probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ndufaf6 T C 4: 11,060,917 (GRCm39) T220A probably benign Het
Nr4a3 A T 4: 48,051,651 (GRCm39) Y135F possibly damaging Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Obscn A T 11: 59,027,032 (GRCm39) L57Q probably damaging Het
Or52e19b T A 7: 103,032,840 (GRCm39) D123V probably damaging Het
Or5d35 T C 2: 87,855,804 (GRCm39) L246P probably damaging Het
Pirb T A 7: 3,715,661 (GRCm39) M839L probably benign Het
Plcl2 A G 17: 50,914,254 (GRCm39) E421G possibly damaging Het
Ppp1r12b T C 1: 134,876,771 (GRCm39) N99S probably benign Het
Ptpro A G 6: 137,354,130 (GRCm39) K169E probably damaging Het
Rita1 T A 5: 120,749,448 (GRCm39) K88N probably damaging Het
Rptn A T 3: 93,303,776 (GRCm39) K370* probably null Het
Simc1 A G 13: 54,687,576 (GRCm39) D115G probably null Het
Stab1 T A 14: 30,864,000 (GRCm39) N136I probably benign Het
Syt4 T A 18: 31,580,409 (GRCm39) probably benign Het
Sytl2 A T 7: 90,038,106 (GRCm39) N522I probably damaging Het
Tax1bp1 A G 6: 52,706,478 (GRCm39) probably benign Het
Tenm2 A T 11: 35,969,396 (GRCm39) D847E probably damaging Het
Th G T 7: 142,447,834 (GRCm39) D321E probably benign Het
Tmem44 A T 16: 30,359,591 (GRCm39) L46Q probably damaging Het
Trp53bp1 A G 2: 121,087,122 (GRCm39) L178P probably damaging Het
Trp63 A G 16: 25,684,968 (GRCm39) *285W probably null Het
Tsen34 T C 7: 3,697,380 (GRCm39) probably benign Het
Tssk4 C T 14: 55,889,272 (GRCm39) T256I probably benign Het
Ttc17 A T 2: 94,196,954 (GRCm39) N464K probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ubn1 A G 16: 4,895,177 (GRCm39) E741G probably damaging Het
Urad T A 5: 147,252,264 (GRCm39) I63F probably damaging Het
Vcan T C 13: 89,852,858 (GRCm39) T701A probably benign Het
Vmn2r58 A G 7: 41,486,639 (GRCm39) V752A possibly damaging Het
Vmn2r69 C A 7: 85,060,793 (GRCm39) V264L possibly damaging Het
Zfp292 A G 4: 34,808,917 (GRCm39) S1376P probably damaging Het
Zfp955a G A 17: 33,460,699 (GRCm39) R478* probably null Het
Znfx1 A C 2: 166,897,189 (GRCm39) F578L probably benign Het
Other mutations in Galk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Galk2 APN 2 125,738,685 (GRCm39) missense probably benign 0.29
IGL01663:Galk2 APN 2 125,825,099 (GRCm39) missense probably benign
IGL01669:Galk2 APN 2 125,729,807 (GRCm39) missense probably damaging 1.00
IGL01831:Galk2 APN 2 125,817,277 (GRCm39) missense probably benign 0.01
IGL02055:Galk2 APN 2 125,773,324 (GRCm39) missense probably benign 0.01
IGL02298:Galk2 APN 2 125,701,290 (GRCm39) missense probably benign 0.00
IGL03093:Galk2 APN 2 125,771,563 (GRCm39) missense probably damaging 1.00
R0305:Galk2 UTSW 2 125,729,808 (GRCm39) missense probably damaging 1.00
R1713:Galk2 UTSW 2 125,773,210 (GRCm39) missense probably benign 0.00
R1870:Galk2 UTSW 2 125,817,183 (GRCm39) missense probably benign
R2327:Galk2 UTSW 2 125,817,315 (GRCm39) missense probably damaging 1.00
R2354:Galk2 UTSW 2 125,773,193 (GRCm39) missense probably benign 0.06
R3962:Galk2 UTSW 2 125,735,293 (GRCm39) missense probably benign 0.13
R5034:Galk2 UTSW 2 125,771,495 (GRCm39) missense probably benign 0.00
R5427:Galk2 UTSW 2 125,788,741 (GRCm39) missense probably benign 0.01
R5619:Galk2 UTSW 2 125,817,317 (GRCm39) nonsense probably null
R6145:Galk2 UTSW 2 125,788,762 (GRCm39) missense possibly damaging 0.90
R6173:Galk2 UTSW 2 125,701,137 (GRCm39) start gained probably benign
R6287:Galk2 UTSW 2 125,712,268 (GRCm39) intron probably benign
R7174:Galk2 UTSW 2 125,738,621 (GRCm39) missense probably damaging 1.00
R7453:Galk2 UTSW 2 125,729,781 (GRCm39) missense possibly damaging 0.51
R7480:Galk2 UTSW 2 125,788,845 (GRCm39) missense probably benign
R7519:Galk2 UTSW 2 125,825,172 (GRCm39) missense possibly damaging 0.60
R7815:Galk2 UTSW 2 125,817,321 (GRCm39) missense probably damaging 1.00
R8094:Galk2 UTSW 2 125,773,189 (GRCm39) missense probably damaging 1.00
R8323:Galk2 UTSW 2 125,708,298 (GRCm39) missense probably benign
R8478:Galk2 UTSW 2 125,771,505 (GRCm39) nonsense probably null
R9292:Galk2 UTSW 2 125,817,218 (GRCm39) missense probably damaging 1.00
R9574:Galk2 UTSW 2 125,824,979 (GRCm39) missense probably benign
R9610:Galk2 UTSW 2 125,817,218 (GRCm39) missense probably damaging 1.00
R9611:Galk2 UTSW 2 125,817,218 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTCCAATGGGAGTCTAGAAC -3'
(R):5'- ACCTGAGTTACAAGATAGCTGGG -3'

Sequencing Primer
(F):5'- CCAATGGGAGTCTAGAACTTCTG -3'
(R):5'- ATAGCTGGGCAGTGGGCTAC -3'
Posted On 2016-03-17