Incidental Mutation 'R9211:Galc'
ID 698893
Institutional Source Beutler Lab
Gene Symbol Galc
Ensembl Gene ENSMUSG00000021003
Gene Name galactosylceramidase
Synonyms 2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9211 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 98168553-98225718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98173699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 621 (A621V)
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 benign
Transcript: ENSMUST00000021390
AA Change: A621V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: A621V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_59 17 684 N/A PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (86/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,099,161 (GRCm39) D85Y possibly damaging Het
Accs T C 2: 93,668,614 (GRCm39) R315G probably damaging Het
Adam3 A C 8: 25,177,910 (GRCm39) W668G probably benign Het
Adgrb2 T A 4: 129,886,199 (GRCm39) V113E probably benign Het
Anapc4 C T 5: 53,007,994 (GRCm39) T391I possibly damaging Het
Angpt2 C T 8: 18,748,078 (GRCm39) G394D probably benign Het
Ankrd31 C G 13: 97,029,551 (GRCm39) L1662V possibly damaging Het
Ankrd36 A G 11: 5,612,370 (GRCm39) D1234G possibly damaging Het
Ankrd6 C T 4: 32,806,580 (GRCm39) V558M probably damaging Het
Ankrd61 T A 5: 143,828,358 (GRCm39) M206L probably benign Het
Arhgap33 C T 7: 30,223,023 (GRCm39) G970R possibly damaging Het
Atf7 A G 15: 102,437,117 (GRCm39) V115A unknown Het
Atp2c2 A T 8: 120,446,032 (GRCm39) R65S probably benign Het
Atp8b5 T A 4: 43,367,960 (GRCm39) M861K probably damaging Het
Bmi1 T C 2: 18,689,152 (GRCm39) S279P probably benign Het
Bptf T G 11: 106,946,124 (GRCm39) S2372R probably damaging Het
Cacnb2 A T 2: 14,879,308 (GRCm39) I15L unknown Het
Card11 A G 5: 140,869,375 (GRCm39) M807T probably benign Het
Ccdc175 A T 12: 72,153,458 (GRCm39) D704E probably damaging Het
Cd300ld T A 11: 114,878,386 (GRCm39) Y42F probably damaging Het
Cdh1 A T 8: 107,390,962 (GRCm39) T693S probably benign Het
Clca4b T C 3: 144,638,214 (GRCm39) Y16C possibly damaging Het
Col4a4 A G 1: 82,506,501 (GRCm39) I273T unknown Het
Coro2b C A 9: 62,427,662 (GRCm39) V9L probably benign Het
Crnkl1 T C 2: 145,774,773 (GRCm39) D55G probably damaging Het
Dcps T A 9: 35,035,872 (GRCm39) N338I probably damaging Het
Dusp2 A T 2: 127,179,311 (GRCm39) H222L probably benign Het
Dync1li1 C A 9: 114,518,012 (GRCm39) Y21* probably null Het
Efhb T G 17: 53,756,507 (GRCm39) Q381H probably damaging Het
Elac2 A T 11: 64,869,864 (GRCm39) probably benign Het
Etaa1 A G 11: 17,896,053 (GRCm39) V688A possibly damaging Het
Fam120c C T X: 150,127,495 (GRCm39) H84Y probably benign Het
Fbxl7 T A 15: 26,789,616 (GRCm39) N37I probably damaging Het
Fndc3b A T 3: 27,523,086 (GRCm39) W498R probably damaging Het
Gch1 A T 14: 47,426,519 (GRCm39) I69N probably damaging Het
Gdpd4 T C 7: 97,615,466 (GRCm39) V97A possibly damaging Het
Hirip3 C T 7: 126,463,567 (GRCm39) R485* probably null Het
Hmgcs2 C T 3: 98,204,748 (GRCm39) T302I possibly damaging Het
Ing5 A T 1: 93,740,409 (GRCm39) K137I possibly damaging Het
Kcnh8 T A 17: 53,146,236 (GRCm39) Y375N probably damaging Het
Kdm3a C A 6: 71,573,674 (GRCm39) W963L probably benign Het
Klra17 T G 6: 129,842,651 (GRCm39) I216L possibly damaging Het
Kmt2e A G 5: 23,669,770 (GRCm39) K86E possibly damaging Het
Krt42 T C 11: 100,155,867 (GRCm39) N293S possibly damaging Het
Lrrc8d T A 5: 105,960,216 (GRCm39) W209R probably damaging Het
Mettl23 C T 11: 116,734,469 (GRCm39) P13S unknown Het
Ncln T C 10: 81,323,527 (GRCm39) Y540C probably damaging Het
Neb C G 2: 52,135,360 (GRCm39) G3250A probably damaging Het
Nebl A G 2: 17,393,501 (GRCm39) probably null Het
Nqo2 A T 13: 34,156,399 (GRCm39) T38S probably benign Het
Obscn A T 11: 59,026,693 (GRCm39) I170N probably benign Het
Or2bd2 G T 7: 6,443,417 (GRCm39) G173W probably damaging Het
Or4c100 A G 2: 88,356,170 (GRCm39) D81G probably benign Het
Or5af2 A T 11: 58,708,709 (GRCm39) N292Y probably damaging Het
Or5p6 C T 7: 107,630,798 (GRCm39) V251I probably damaging Het
Or7g28 T A 9: 19,271,824 (GRCm39) I276F possibly damaging Het
Or8k38 A T 2: 86,488,024 (GRCm39) Y259* probably null Het
Pacs1 A T 19: 5,189,057 (GRCm39) V775E probably damaging Het
Pheta2 A T 15: 82,225,227 (GRCm39) probably benign Het
Pmfbp1 T C 8: 110,262,445 (GRCm39) I713T probably benign Het
Pnma8b A G 7: 16,679,589 (GRCm39) D191G unknown Het
Polr1a T C 6: 71,943,521 (GRCm39) I1252T probably damaging Het
Prss16 A T 13: 22,192,754 (GRCm39) M110K probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Rab5b C A 10: 128,519,063 (GRCm39) probably null Het
Reln G T 5: 22,549,200 (GRCm39) Y69* probably null Het
Rgs12 T A 5: 35,123,165 (GRCm39) M316K probably damaging Het
Rmi2 T C 16: 10,657,743 (GRCm39) C118R possibly damaging Het
Rnf223 T A 4: 156,216,834 (GRCm39) C70S probably damaging Het
Rxrb T A 17: 34,255,626 (GRCm39) F371Y probably damaging Het
Smurf2 T A 11: 106,759,463 (GRCm39) S78C probably damaging Het
Sorbs1 A T 19: 40,332,798 (GRCm39) probably null Het
Spag17 C T 3: 100,032,614 (GRCm39) probably benign Het
Spidr T C 16: 15,871,319 (GRCm39) H217R probably benign Het
Tiam2 T G 17: 3,498,729 (GRCm39) V835G possibly damaging Het
Tm2d2 C T 8: 25,510,548 (GRCm39) R136* probably null Het
Tnks C T 8: 35,316,489 (GRCm39) D877N probably damaging Het
Tns1 A G 1: 73,956,948 (GRCm39) L491P possibly damaging Het
Trps1 A G 15: 50,694,840 (GRCm39) I485T probably damaging Het
Tubgcp5 A G 7: 55,456,331 (GRCm39) S308G probably benign Het
Ugt8a T C 3: 125,661,130 (GRCm39) H454R probably damaging Het
Usp32 G T 11: 84,913,559 (GRCm39) T924K probably damaging Het
Vmn2r91 A T 17: 18,356,819 (GRCm39) K829* probably null Het
Zfc3h1 T C 10: 115,248,328 (GRCm39) F1146L possibly damaging Het
Zfp729a G T 13: 67,767,820 (GRCm39) A803E probably benign Het
Zfp990 A G 4: 145,264,171 (GRCm39) T390A 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
R2496:Galc UTSW 12 98,193,540 (GRCm39) missense probably damaging 1.00
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
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'- GCCATACACCTCCATGCTATG -3'
(R):5'- GTAGCTGAACGAGGGATTTTCC -3'

Sequencing Primer
(F):5'- GTGGATGTCTGGCGACTCC -3'
(R):5'- ACGAGGGATTTTCCTTTTAAGTCAG -3'
Posted On 2022-02-07