Incidental Mutation 'R5640:Fuca2'
ID 440613
Institutional Source Beutler Lab
Gene Symbol Fuca2
Ensembl Gene ENSMUSG00000019810
Gene Name fucosidase, alpha-L- 2, plasma
Synonyms 5530401P20Rik, 0610025O11Rik
MMRRC Submission 043289-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5640 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 13376314-13394779 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 13383174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000120549] [ENSMUST00000121465]
AlphaFold Q99KR8
Predicted Effect probably null
Transcript: ENSMUST00000060212
SMART Domains Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120549
SMART Domains Protein: ENSMUSP00000114021
Gene: ENSMUSG00000019810

DomainStartEndE-ValueType
Alpha_L_fucos 1 95 1.15e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121465
SMART Domains Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166466
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,861,511 (GRCm39) Y220C probably damaging Het
Actl6a A G 3: 32,772,199 (GRCm39) T170A probably damaging Het
Adamts8 T C 9: 30,867,796 (GRCm39) V540A probably benign Het
Aga T C 8: 53,964,919 (GRCm39) L27P probably damaging Het
Agmat T A 4: 141,483,134 (GRCm39) H189Q probably damaging Het
Alx3 C A 3: 107,507,977 (GRCm39) T162K probably damaging Het
Armc2 T A 10: 41,887,894 (GRCm39) I30L possibly damaging Het
Atp10d T G 5: 72,404,552 (GRCm39) Y487D probably damaging Het
Atp13a4 C T 16: 29,234,649 (GRCm39) M908I probably damaging Het
B4galt2 T G 4: 117,731,195 (GRCm39) N322T probably benign Het
Bmal1 C T 7: 112,907,888 (GRCm39) P530L probably damaging Het
Brdt A T 5: 107,507,174 (GRCm39) K525* probably null Het
Ccdc168 T C 1: 44,101,087 (GRCm39) I4V probably benign Het
Ces3a T A 8: 105,778,377 (GRCm39) M246K probably benign Het
Chd9 T A 8: 91,763,190 (GRCm39) H2338Q probably damaging Het
Cyp3a16 T A 5: 145,389,633 (GRCm39) D244V possibly damaging Het
Dhrs9 C A 2: 69,224,822 (GRCm39) A170E probably damaging Het
Dlg5 T C 14: 24,220,529 (GRCm39) N550D probably damaging Het
Dnah8 C T 17: 31,022,082 (GRCm39) T3894I probably damaging Het
Dpys T C 15: 39,705,462 (GRCm39) H217R probably damaging Het
Dpysl2 C T 14: 67,071,817 (GRCm39) V108I probably benign Het
Eprs1 A G 1: 185,106,381 (GRCm39) T199A probably benign Het
Fads1 A G 19: 10,163,767 (GRCm39) D183G probably damaging Het
Fam110b T G 4: 5,798,689 (GRCm39) Y36D probably damaging Het
Fbxl21 G A 13: 56,685,194 (GRCm39) D407N probably benign Het
Gnas C A 2: 174,126,764 (GRCm39) R100S probably benign Het
Gse1 A G 8: 121,289,416 (GRCm39) H90R possibly damaging Het
Hoxc10 G T 15: 102,875,702 (GRCm39) C137F probably benign Het
Ipp T G 4: 116,377,886 (GRCm39) L252R possibly damaging Het
Jmjd1c T A 10: 67,061,857 (GRCm39) S1403R probably benign Het
Kif19a A G 11: 114,670,041 (GRCm39) M79V probably benign Het
Lipo4 T C 19: 33,478,986 (GRCm39) T285A possibly damaging Het
Lrrc66 A T 5: 73,765,977 (GRCm39) D355E probably benign Het
Lrsam1 T A 2: 32,835,864 (GRCm39) Q301L probably benign Het
Med6 C T 12: 81,628,628 (GRCm39) R138Q probably damaging Het
Nlrc5 A G 8: 95,202,421 (GRCm39) T174A probably benign Het
Nrbp1 C T 5: 31,406,929 (GRCm39) R322W possibly damaging Het
Or10ak14 T A 4: 118,610,986 (GRCm39) T250S probably benign Het
Or11g24 C A 14: 50,662,111 (GRCm39) A45D probably benign Het
Or4a47 T A 2: 89,666,282 (GRCm39) E2D probably benign Het
Pde3a A G 6: 141,429,641 (GRCm39) E734G probably damaging Het
Pgap6 C T 17: 26,337,846 (GRCm39) T410I possibly damaging Het
Pnpla7 C T 2: 24,893,013 (GRCm39) T167I possibly damaging Het
Pop7 T C 5: 137,500,321 (GRCm39) N4S possibly damaging Het
Ppm1h C A 10: 122,618,183 (GRCm39) P114Q probably benign Het
Prdm16 T C 4: 154,426,367 (GRCm39) T473A probably benign Het
Prdm6 T C 18: 53,669,813 (GRCm39) probably null Het
Prkdc T G 16: 15,647,633 (GRCm39) W3686G possibly damaging Het
Ptchd4 C A 17: 42,814,026 (GRCm39) H642Q possibly damaging Het
Rad1 A G 15: 10,496,009 (GRCm39) Y228C possibly damaging Het
Rgs22 G A 15: 36,107,101 (GRCm39) T56I probably benign Het
Rnf135 C A 11: 80,084,733 (GRCm39) H169N probably benign Het
Rnft1 C T 11: 86,377,319 (GRCm39) Q128* probably null Het
Sez6 T C 11: 77,864,585 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,649,769 (GRCm39) S125G probably benign Het
Sik2 T C 9: 50,826,806 (GRCm39) E295G possibly damaging Het
Themis A G 10: 28,739,372 (GRCm39) Q614R probably damaging Het
Thsd7b T A 1: 130,044,408 (GRCm39) C1129* probably null Het
Tmem68 A T 4: 3,569,512 (GRCm39) F59L probably benign Het
Vmn2r107 A G 17: 20,595,426 (GRCm39) T660A probably damaging Het
Vwa5b2 G T 16: 20,416,292 (GRCm39) C484F probably damaging Het
Zfp418 T A 7: 7,184,980 (GRCm39) C314* probably null Het
Other mutations in Fuca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Fuca2 APN 10 13,381,651 (GRCm39) missense probably damaging 0.99
IGL00563:Fuca2 APN 10 13,381,651 (GRCm39) missense probably damaging 0.99
IGL02935:Fuca2 APN 10 13,383,063 (GRCm39) missense probably null 0.00
IGL02953:Fuca2 APN 10 13,383,173 (GRCm39) splice site probably benign
R0366:Fuca2 UTSW 10 13,381,507 (GRCm39) missense probably benign
R0543:Fuca2 UTSW 10 13,378,870 (GRCm39) missense probably damaging 1.00
R0731:Fuca2 UTSW 10 13,381,771 (GRCm39) missense probably benign 0.08
R1573:Fuca2 UTSW 10 13,381,587 (GRCm39) missense possibly damaging 0.90
R1879:Fuca2 UTSW 10 13,383,000 (GRCm39) missense possibly damaging 0.64
R2026:Fuca2 UTSW 10 13,388,391 (GRCm39) missense probably damaging 0.97
R2030:Fuca2 UTSW 10 13,382,518 (GRCm39) missense probably damaging 0.99
R2142:Fuca2 UTSW 10 13,381,609 (GRCm39) missense probably damaging 1.00
R2883:Fuca2 UTSW 10 13,381,695 (GRCm39) missense probably benign 0.01
R4462:Fuca2 UTSW 10 13,378,979 (GRCm39) missense probably damaging 1.00
R4863:Fuca2 UTSW 10 13,381,651 (GRCm39) missense probably damaging 0.99
R5466:Fuca2 UTSW 10 13,388,441 (GRCm39) nonsense probably null
R6199:Fuca2 UTSW 10 13,381,783 (GRCm39) missense probably damaging 0.96
R7136:Fuca2 UTSW 10 13,381,665 (GRCm39) missense probably benign 0.27
R7555:Fuca2 UTSW 10 13,383,174 (GRCm39) splice site probably null
R8111:Fuca2 UTSW 10 13,390,545 (GRCm39) missense probably benign 0.02
R8266:Fuca2 UTSW 10 13,388,633 (GRCm39) intron probably benign
R9177:Fuca2 UTSW 10 13,390,563 (GRCm39) nonsense probably null
R9268:Fuca2 UTSW 10 13,390,563 (GRCm39) nonsense probably null
R9340:Fuca2 UTSW 10 13,382,518 (GRCm39) missense probably damaging 0.99
R9630:Fuca2 UTSW 10 13,378,820 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTGGAAACAGTCGCATGTGG -3'
(R):5'- CTACGACTAGGGGATATCTAGGC -3'

Sequencing Primer
(F):5'- CAGTCGCATGTGGTGGAAATC -3'
(R):5'- GGGGATATCTAGGCACTATTTAAGC -3'
Posted On 2016-11-08