Incidental Mutation 'R0366:Fuca2'
ID 36424
Institutional Source Beutler Lab
Gene Symbol Fuca2
Ensembl Gene ENSMUSG00000019810
Gene Name fucosidase, alpha-L- 2, plasma
Synonyms 5530401P20Rik, 0610025O11Rik
MMRRC Submission 038572-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0366 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 13376314-13394779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13381507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 140 (R140H)
Ref Sequence ENSEMBL: ENSMUSP00000113499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000120549] [ENSMUST00000121465] [ENSMUST00000130865]
AlphaFold Q99KR8
Predicted Effect probably benign
Transcript: ENSMUST00000060212
AA Change: R140H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: R140H

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
AA Change: R57H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114021
Gene: ENSMUSG00000019810
AA Change: R57H

DomainStartEndE-ValueType
Alpha_L_fucos 1 95 1.15e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121465
AA Change: R140H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: R140H

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166466
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,724 (GRCm39) S93* probably null Het
Ackr2 T C 9: 121,738,426 (GRCm39) L267P probably damaging Het
Adgre4 T A 17: 56,099,001 (GRCm39) L169* probably null Het
Ankrd12 T A 17: 66,291,501 (GRCm39) S1311C possibly damaging Het
Arid2 T A 15: 96,259,601 (GRCm39) probably benign Het
Atp9b A T 18: 80,805,317 (GRCm39) V747E probably damaging Het
Best1 T C 19: 9,969,417 (GRCm39) probably null Het
Brwd1 C A 16: 95,839,164 (GRCm39) E836* probably null Het
Cachd1 A G 4: 100,851,934 (GRCm39) S1177G possibly damaging Het
Cacna1e C T 1: 154,291,884 (GRCm39) E1766K probably benign Het
Cckar A G 5: 53,857,507 (GRCm39) I301T probably benign Het
Cdc27 T G 11: 104,396,474 (GRCm39) T816P probably damaging Het
Cep162 T G 9: 87,102,537 (GRCm39) Q708H probably damaging Het
Cep250 C A 2: 155,830,321 (GRCm39) D1301E probably benign Het
D430041D05Rik G A 2: 104,085,685 (GRCm39) H955Y probably damaging Het
Dcdc2a T A 13: 25,240,417 (GRCm39) V55E probably damaging Het
Efcab12 A G 6: 115,800,209 (GRCm39) probably benign Het
Ep400 A G 5: 110,849,537 (GRCm39) V1428A unknown Het
Erbb3 T C 10: 128,408,439 (GRCm39) E825G possibly damaging Het
Evl A T 12: 108,652,307 (GRCm39) probably null Het
Gm5581 T C 6: 131,143,410 (GRCm39) noncoding transcript Het
Gm7052 T C 17: 22,259,498 (GRCm39) probably benign Het
Gpd1 T G 15: 99,617,151 (GRCm39) I119S probably damaging Het
Gzmc A T 14: 56,470,193 (GRCm39) Y101* probably null Het
Hmcn2 G T 2: 31,314,218 (GRCm39) A3588S possibly damaging Het
Ikbkb A G 8: 23,185,276 (GRCm39) probably benign Het
Itgax G T 7: 127,748,261 (GRCm39) probably benign Het
Kif24 C A 4: 41,428,717 (GRCm39) S81I possibly damaging Het
Lct G A 1: 128,214,199 (GRCm39) P1858S probably benign Het
Map2k1 C A 9: 64,100,984 (GRCm39) probably null Het
Mdga1 A G 17: 30,076,682 (GRCm39) V30A possibly damaging Het
Meiosin T A 7: 18,840,964 (GRCm39) I57F probably damaging Het
Mtcl1 G A 17: 66,645,124 (GRCm39) P1441L probably damaging Het
N4bp2 T A 5: 65,963,739 (GRCm39) F596Y possibly damaging Het
Notch4 A T 17: 34,800,473 (GRCm39) probably benign Het
Or2l5 A G 16: 19,333,598 (GRCm39) S263P probably benign Het
Or4c12 A C 2: 89,774,162 (GRCm39) V99G possibly damaging Het
Or6c1 A G 10: 129,517,840 (GRCm39) M256T possibly damaging Het
Or8b44 T A 9: 38,410,450 (GRCm39) C162S possibly damaging Het
Or8k25 A G 2: 86,244,369 (GRCm39) V9A possibly damaging Het
Pbld2 A G 10: 62,889,736 (GRCm39) probably benign Het
Phip T C 9: 82,808,460 (GRCm39) Y505C probably damaging Het
Plcb2 A G 2: 118,554,928 (GRCm39) F58L probably benign Het
Plcd1 T A 9: 118,910,204 (GRCm39) I72F probably damaging Het
Ppp5c A T 7: 16,756,508 (GRCm39) Y63* probably null Het
Prdm4 T C 10: 85,743,868 (GRCm39) D129G probably damaging Het
Prkcq C A 2: 11,251,649 (GRCm39) probably benign Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rab7b T A 1: 131,626,242 (GRCm39) V90D probably damaging Het
Ripk3 T C 14: 56,024,292 (GRCm39) T193A probably damaging Het
Rnf167 C T 11: 70,540,143 (GRCm39) R88* probably null Het
Robo1 A G 16: 72,539,133 (GRCm39) T59A possibly damaging Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Scg3 T A 9: 75,582,620 (GRCm39) probably benign Het
Sec31a A T 5: 100,530,625 (GRCm39) L677H probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Setd7 T C 3: 51,457,741 (GRCm39) T29A probably benign Het
Shoc1 A C 4: 59,099,410 (GRCm39) M94R probably benign Het
Slc4a5 A G 6: 83,272,854 (GRCm39) Y942C probably benign Het
Slit1 T A 19: 41,599,470 (GRCm39) Y1027F probably damaging Het
Sptan1 G A 2: 29,882,764 (GRCm39) probably null Het
Tdrd12 T C 7: 35,208,227 (GRCm39) Q249R probably benign Het
Tmem171 T A 13: 98,828,736 (GRCm39) D138V possibly damaging Het
Ttll10 G A 4: 156,119,612 (GRCm39) R596W probably damaging Het
Usp53 G T 3: 122,742,850 (GRCm39) N695K probably damaging Het
Vmn2r25 A T 6: 123,800,581 (GRCm39) L587* probably null Het
Zglp1 C T 9: 20,974,675 (GRCm39) C171Y probably benign 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
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
R5640:Fuca2 UTSW 10 13,383,174 (GRCm39) splice site 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'- TGTGGCAGACACCATGACATTAGAC -3'
(R):5'- TGAGCTGGACTGATCCTCCAGAAAG -3'

Sequencing Primer
(F):5'- GGAGTGTACAGCTCTTACAGTCATC -3'
(R):5'- CTGATCCTCCAGAAAGAGCGG -3'
Posted On 2013-05-09