Incidental Mutation 'R5822:B4galnt2'
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ID449989
Institutional Source Beutler Lab
Gene Symbol B4galnt2
Ensembl Gene ENSMUSG00000013418
Gene Namebeta-1,4-N-acetyl-galactosaminyl transferase 2
SynonymsGalgt2, Dlb-1, Dlb1
MMRRC Submission 044052-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R5822 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location95865943-95914891 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95866159 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 482 (Y482C)
Ref Sequence ENSEMBL: ENSMUSP00000037239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038343]
Predicted Effect probably damaging
Transcript: ENSMUST00000038343
AA Change: Y482C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: Y482C

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
low complexity region 125 138 N/A INTRINSIC
Pfam:Glycos_transf_2 268 433 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125956
Meta Mutation Damage Score 0.348 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele show increased startle reflex, increased systemic arterial diastolic blood pressure, abnormal B cell number, increased neutrophil cell number, and increased circulating alkaline phosphatase level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik G A 1: 105,718,856 V660M probably damaging Het
4930553M12Rik T C 4: 88,868,359 I7M unknown Het
Abca8a C T 11: 110,030,879 E1450K probably damaging Het
Bud23 A G 5: 135,063,921 F9L probably damaging Het
Cacna1s A T 1: 136,112,078 E1214V probably damaging Het
Cdh20 T C 1: 104,934,098 M1T probably null Het
Chkb T C 15: 89,429,512 E30G probably benign Het
Crp A C 1: 172,698,068 probably benign Het
Cyp11b1 T C 15: 74,836,821 R375G probably null Het
Ddx11 C T 17: 66,129,981 S90L probably benign Het
Flnc A C 6: 29,459,430 I2510L probably damaging Het
Fyb T A 15: 6,663,226 probably benign Het
Gbp3 C T 3: 142,566,478 P247L probably benign Het
Ggn C T 7: 29,172,556 P454S probably damaging Het
Gm12800 A G 4: 101,910,243 M230V probably damaging Het
Gm813 C A 16: 58,615,712 probably null Het
Herc1 T A 9: 66,445,612 S2127T probably benign Het
Ipo11 A G 13: 106,848,418 probably benign Het
Kcnh7 G A 2: 62,716,238 R1000W probably benign Het
Kdm5b A T 1: 134,588,773 probably benign Het
Klc3 C T 7: 19,395,799 probably null Het
Lst1 A T 17: 35,188,383 M3K unknown Het
Madd C T 2: 91,152,533 R1355Q probably damaging Het
Map3k10 A G 7: 27,656,734 L920P probably damaging Het
Mdga2 A G 12: 66,655,335 V423A probably damaging Het
Mogat2 T C 7: 99,219,905 D302G possibly damaging Het
Nkapl A C 13: 21,468,423 S7A unknown Het
Npas2 A G 1: 39,347,566 S639G probably benign Het
Nr1h5 T G 3: 102,949,328 H260P probably damaging Het
Olfr117 T C 17: 37,660,231 Y34C probably damaging Het
Olfr1260 T C 2: 89,978,443 S222P probably damaging Het
Olfr1352 C T 10: 78,984,189 T133I possibly damaging Het
Olfr160 T C 9: 37,711,791 M163V probably benign Het
Olfr331 A T 11: 58,501,638 L306Q possibly damaging Het
Pan2 T C 10: 128,320,380 L1142P probably damaging Het
Pdik1l C T 4: 134,287,163 E11K possibly damaging Het
Ppp1r15a A G 7: 45,523,303 V555A probably damaging Het
Ppp6c G A 2: 39,200,052 Q81* probably null Het
Ptprz1 A T 6: 23,001,445 Y1178F probably benign Het
Rictor G A 15: 6,794,006 E1555K probably benign Het
Rims2 T A 15: 39,476,490 L860Q probably damaging Het
Sdr39u1 A G 14: 55,897,739 V249A probably benign Het
Serhl T C 15: 83,116,327 V305A probably benign Het
Slc5a11 T C 7: 123,252,431 I201T probably damaging Het
Stk32a A T 18: 43,313,487 E334V probably benign Het
Tmem217 A G 17: 29,526,555 L67P probably damaging Het
Tnnt1 A T 7: 4,516,346 L12* probably null Het
Trim80 C T 11: 115,447,921 R526C probably damaging Het
Unc5b A T 10: 60,772,527 F635I possibly damaging Het
Utp20 T G 10: 88,817,285 N311T probably benign Het
Zfp276 A G 8: 123,255,718 T74A probably benign Het
Other mutations in B4galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03252:B4galnt2 APN 11 95873931 missense probably damaging 0.99
R0594:B4galnt2 UTSW 11 95891909 missense probably benign 0.00
R1216:B4galnt2 UTSW 11 95891941 missense probably benign 0.02
R1344:B4galnt2 UTSW 11 95869355 missense probably benign 0.43
R1735:B4galnt2 UTSW 11 95890983 missense probably damaging 0.99
R4706:B4galnt2 UTSW 11 95876097 critical splice donor site probably null
R4707:B4galnt2 UTSW 11 95876097 critical splice donor site probably null
R4867:B4galnt2 UTSW 11 95868426 missense probably damaging 1.00
R4937:B4galnt2 UTSW 11 95868429 missense probably damaging 1.00
R4967:B4galnt2 UTSW 11 95869274 missense probably benign 0.19
R5077:B4galnt2 UTSW 11 95876314 intron probably benign
R6225:B4galnt2 UTSW 11 95868442 missense probably damaging 1.00
R6239:B4galnt2 UTSW 11 95876239 missense probably damaging 0.99
R6653:B4galnt2 UTSW 11 95891921 missense probably benign
R6747:B4galnt2 UTSW 11 95868634 intron probably null
R6969:B4galnt2 UTSW 11 95891930 missense probably benign 0.02
X0009:B4galnt2 UTSW 11 95891061 missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GGTACCCTCCAATGTCCAATC -3'
(R):5'- TTTAGTGGAACCCAGCGGAC -3'

Sequencing Primer
(F):5'- CGATTCCTGGTCTTGGTAC -3'
(R):5'- TCTCCAATCTGAGAAACTGAGG -3'
Posted On2016-12-20