Incidental Mutation 'IGL03252:B4galnt2'
ID 414570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galnt2
Ensembl Gene ENSMUSG00000013418
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 2
Synonyms Galgt2, Dlb-1, Dlb1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL03252
Quality Score
Status
Chromosome 11
Chromosomal Location 95865943-95914891 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95873931 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 237 (S237P)
Ref Sequence ENSEMBL: ENSMUSP00000037239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038343]
AlphaFold Q09199
Predicted Effect probably damaging
Transcript: ENSMUST00000038343
AA Change: S237P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037239
Gene: ENSMUSG00000013418
AA Change: S237P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129261
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btla A G 16: 45,239,146 H71R possibly damaging Het
Calml3 T A 13: 3,803,759 K149* probably null Het
Cyp2c29 T C 19: 39,287,175 W20R probably damaging Het
Dnah8 G A 17: 30,673,920 probably null Het
Elf3 T C 1: 135,254,953 T345A probably damaging Het
Erc2 T C 14: 28,475,649 probably benign Het
Gm10375 C T 14: 43,604,832 C147Y probably damaging Het
Gsdma2 A G 11: 98,649,090 R13G probably damaging Het
Hist1h3a G A 13: 23,761,960 probably null Het
Ighg3 G T 12: 113,360,564 P101H unknown Het
L3mbtl3 A G 10: 26,331,812 probably benign Het
Micall2 T C 5: 139,716,726 N254S probably benign Het
Myh4 A T 11: 67,252,216 D990V probably damaging Het
Ncapd3 T A 9: 27,051,449 F394I probably damaging Het
Nek1 C T 8: 61,072,330 Q601* probably null Het
Olfr1281 T A 2: 111,328,780 Y120* probably null Het
Olfr668 C T 7: 104,925,387 V126I probably benign Het
Plcb1 C T 2: 135,370,428 P980S probably benign Het
Puf60 T C 15: 76,071,850 D224G probably damaging Het
Pus7l T A 15: 94,525,810 H586L probably benign Het
Rims2 T C 15: 39,452,352 S585P probably benign Het
Rxfp1 T A 3: 79,667,683 D207V probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sptlc2 A G 12: 87,355,657 I165T probably benign Het
Sult2a3 A G 7: 14,067,634 V260A probably damaging Het
Tas2r125 A G 6: 132,910,590 probably null Het
Tbx18 T A 9: 87,705,580 I495F probably damaging Het
Top2b A T 14: 16,393,163 N274I possibly damaging Het
Vmn2r53 T G 7: 12,606,391 T52P probably damaging Het
Other mutations in B4galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5822:B4galnt2 UTSW 11 95866159 missense probably damaging 1.00
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 splice site probably null
R6969:B4galnt2 UTSW 11 95891930 missense probably benign 0.02
R7448:B4galnt2 UTSW 11 95869367 missense probably damaging 1.00
R7879:B4galnt2 UTSW 11 95869397 missense possibly damaging 0.87
R8372:B4galnt2 UTSW 11 95869280 missense possibly damaging 0.61
R8397:B4galnt2 UTSW 11 95866163 missense probably benign 0.00
R8966:B4galnt2 UTSW 11 95890985 missense probably damaging 1.00
X0009:B4galnt2 UTSW 11 95891061 missense probably benign 0.13
Posted On 2016-08-02