Incidental Mutation 'R2496:Galc'
ID 251219
Institutional Source Beutler Lab
Gene Symbol Galc
Ensembl Gene ENSMUSG00000021003
Gene Name galactosylceramidase
Synonyms 2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase
MMRRC Submission 040410-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2496 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 98168553-98225718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98193540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 350 (F350V)
Ref Sequence ENSEMBL: ENSMUSP00000021390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021390]
AlphaFold P54818
PDB Structure STRUCTURE OF GALACTOCEREBROSIDASE FROM MOUSE [X-RAY DIFFRACTION]
STRUCTURE OF GALACTOCEREBROSIDASE FROM MOUSE IN COMPLEX WITH GALACTOSE [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH 4NBDG: ENZYME-SUBSTRATE COMPLEX [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH D-GALACTAL: ENZYME- INTERMEDIATE COMPLEX [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH GALACTOSE: ENZYME- PRODUCT COMPLEX [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021390
AA Change: F350V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: F350V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_59 17 684 N/A PFAM
Predicted Effect unknown
Transcript: ENSMUST00000221063
AA Change: F156V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222042
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably damaging Het
Other mutations in Galc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Galc APN 12 98,197,681 (GRCm39) missense probably benign
IGL01287:Galc APN 12 98,212,503 (GRCm39) unclassified probably benign
IGL01618:Galc APN 12 98,218,340 (GRCm39) missense possibly damaging 0.92
IGL02125:Galc APN 12 98,197,768 (GRCm39) missense probably damaging 1.00
IGL02274:Galc APN 12 98,220,473 (GRCm39) nonsense probably null
IGL02392:Galc APN 12 98,173,672 (GRCm39) missense probably damaging 0.99
IGL02478:Galc APN 12 98,179,391 (GRCm39) missense possibly damaging 0.96
IGL02544:Galc APN 12 98,197,701 (GRCm39) missense probably benign 0.27
IGL03268:Galc APN 12 98,188,852 (GRCm39) splice site probably benign
IGL03327:Galc APN 12 98,173,735 (GRCm39) splice site probably benign
Crabby2 UTSW 12 98,200,525 (GRCm39) missense probably damaging 1.00
Krabbe UTSW 12 98,188,906 (GRCm39) missense probably damaging 1.00
lobster UTSW 12 98,212,514 (GRCm39) missense probably null 0.84
quake UTSW 12 98,208,973 (GRCm39) missense probably damaging 1.00
teeter UTSW 12 98,225,421 (GRCm39) missense probably damaging 1.00
R0218:Galc UTSW 12 98,188,906 (GRCm39) missense probably damaging 1.00
R0240:Galc UTSW 12 98,218,293 (GRCm39) missense probably damaging 1.00
R0240:Galc UTSW 12 98,218,293 (GRCm39) missense probably damaging 1.00
R0467:Galc UTSW 12 98,208,904 (GRCm39) missense probably damaging 1.00
R1619:Galc UTSW 12 98,200,563 (GRCm39) missense probably benign 0.00
R1763:Galc UTSW 12 98,200,525 (GRCm39) missense probably damaging 1.00
R1832:Galc UTSW 12 98,200,499 (GRCm39) critical splice donor site probably null
R1844:Galc UTSW 12 98,212,556 (GRCm39) splice site probably null
R1996:Galc UTSW 12 98,218,285 (GRCm39) missense probably damaging 1.00
R2010:Galc UTSW 12 98,220,489 (GRCm39) missense possibly damaging 0.51
R2097:Galc UTSW 12 98,218,291 (GRCm39) missense probably benign
R2881:Galc UTSW 12 98,179,355 (GRCm39) missense probably benign
R3009:Galc UTSW 12 98,170,228 (GRCm39) missense probably damaging 1.00
R4571:Galc UTSW 12 98,188,876 (GRCm39) missense probably benign 0.00
R4764:Galc UTSW 12 98,209,003 (GRCm39) missense possibly damaging 0.78
R4851:Galc UTSW 12 98,193,533 (GRCm39) missense probably benign 0.00
R4854:Galc UTSW 12 98,223,136 (GRCm39) missense probably damaging 1.00
R4900:Galc UTSW 12 98,197,731 (GRCm39) missense probably damaging 1.00
R4983:Galc UTSW 12 98,209,027 (GRCm39) nonsense probably null
R5220:Galc UTSW 12 98,197,672 (GRCm39) splice site probably null
R5273:Galc UTSW 12 98,218,330 (GRCm39) missense probably damaging 1.00
R5495:Galc UTSW 12 98,197,673 (GRCm39) critical splice donor site probably null
R5689:Galc UTSW 12 98,179,245 (GRCm39) missense possibly damaging 0.94
R5819:Galc UTSW 12 98,182,520 (GRCm39) missense probably benign 0.06
R6191:Galc UTSW 12 98,218,293 (GRCm39) missense probably damaging 1.00
R6196:Galc UTSW 12 98,225,421 (GRCm39) missense probably damaging 1.00
R6305:Galc UTSW 12 98,225,549 (GRCm39) missense possibly damaging 0.57
R6335:Galc UTSW 12 98,208,973 (GRCm39) missense probably damaging 1.00
R7255:Galc UTSW 12 98,212,514 (GRCm39) missense probably null 0.84
R7496:Galc UTSW 12 98,225,497 (GRCm39) nonsense probably null
R7704:Galc UTSW 12 98,175,102 (GRCm39) missense probably benign
R8871:Galc UTSW 12 98,212,543 (GRCm39) missense probably damaging 1.00
R9124:Galc UTSW 12 98,220,423 (GRCm39) critical splice donor site probably null
R9140:Galc UTSW 12 98,173,673 (GRCm39) missense probably null 0.55
R9211:Galc UTSW 12 98,173,699 (GRCm39) missense probably benign 0.00
R9220:Galc UTSW 12 98,220,523 (GRCm39) missense probably damaging 1.00
R9718:Galc UTSW 12 98,225,573 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGCCTTCCTATGCCCAGAAG -3'
(R):5'- CAGTCATTCAGAAAGTCTTCCTG -3'

Sequencing Primer
(F):5'- CCTTCTGTTAAAGACAAAGTTCCTGG -3'
(R):5'- GTCTTCCTGCAGATATACTTTACAG -3'
Posted On 2014-12-04