Incidental Mutation 'R6974:B4galt2'
ID 542335
Institutional Source Beutler Lab
Gene Symbol B4galt2
Ensembl Gene ENSMUSG00000028541
Gene Name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
Synonyms
MMRRC Submission 045084-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.282) question?
Stock # R6974 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 117730197-117740759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117731148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 338 (S338P)
Ref Sequence ENSEMBL: ENSMUSP00000102029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000030269] [ENSMUST00000063857] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000106422] [ENSMUST00000131938] [ENSMUST00000149168] [ENSMUST00000153358] [ENSMUST00000164853] [ENSMUST00000166325] [ENSMUST00000167287] [ENSMUST00000167443] [ENSMUST00000171052]
AlphaFold Q9Z2Y2
Predicted Effect probably damaging
Transcript: ENSMUST00000030266
AA Change: S338P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
AA Change: S338P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 228 4.2e-59 PFAM
Pfam:Glyco_transf_7C 232 310 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030269
SMART Domains Protein: ENSMUSP00000030269
Gene: ENSMUSG00000028542

DomainStartEndE-ValueType
Pfam:SNF 27 562 5.1e-234 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063857
SMART Domains Protein: ENSMUSP00000066102
Gene: ENSMUSG00000028542

DomainStartEndE-ValueType
Pfam:SNF 27 562 5.1e-234 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084325
AA Change: S338P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
AA Change: S338P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 230 1.9e-47 PFAM
Pfam:Glyco_transf_7C 232 310 2.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106421
AA Change: S338P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
AA Change: S338P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 230 1.9e-47 PFAM
Pfam:Glyco_transf_7C 232 310 2.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106422
SMART Domains Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
coiled coil region 133 158 N/A INTRINSIC
low complexity region 254 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131938
Predicted Effect probably benign
Transcript: ENSMUST00000149168
SMART Domains Protein: ENSMUSP00000129359
Gene: ENSMUSG00000028542

DomainStartEndE-ValueType
low complexity region 91 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153358
SMART Domains Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 197 9.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164853
SMART Domains Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
coiled coil region 133 158 N/A INTRINSIC
low complexity region 254 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166325
SMART Domains Protein: ENSMUSP00000131493
Gene: ENSMUSG00000078588

DomainStartEndE-ValueType
coiled coil region 33 57 N/A INTRINSIC
low complexity region 61 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167287
SMART Domains Protein: ENSMUSP00000126161
Gene: ENSMUSG00000078588

DomainStartEndE-ValueType
coiled coil region 13 38 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167443
SMART Domains Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 188 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171052
SMART Domains Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588

DomainStartEndE-ValueType
Pfam:CCDC24 21 201 3.9e-67 PFAM
low complexity region 282 294 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased brain weight, ectopic Purkinje cells in the cerebellum, and impaired spatial learning and coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,206,221 (GRCm39) N67K probably benign Het
Amotl1 C A 9: 14,556,216 (GRCm39) E37* probably null Het
Ap4b1 C A 3: 103,720,601 (GRCm39) Y90* probably null Het
Apc A G 18: 34,431,480 (GRCm39) E277G possibly damaging Het
Atl1 T A 12: 69,972,813 (GRCm39) H44Q probably damaging Het
Atp6v0b G A 4: 117,742,864 (GRCm39) T74M probably benign Het
Auts2 T C 5: 131,469,437 (GRCm39) T627A probably benign Het
B4galnt4 T A 7: 140,647,449 (GRCm39) I372N possibly damaging Het
Cfap43 A C 19: 47,773,717 (GRCm39) probably null Het
Col4a1 T C 8: 11,362,538 (GRCm39) probably benign Het
Col7a1 A C 9: 108,798,494 (GRCm39) I1741L possibly damaging Het
Coprs A T 8: 13,935,750 (GRCm39) S90T probably benign Het
Csrnp3 T C 2: 65,779,408 (GRCm39) V40A possibly damaging Het
Ephx1 C A 1: 180,827,287 (GRCm39) probably null Het
Erich6 C A 3: 58,526,220 (GRCm39) R594L probably benign Het
F2rl2 A T 13: 95,837,038 (GRCm39) N28Y probably damaging Het
Fbxo38 A T 18: 62,639,740 (GRCm39) N1041K possibly damaging Het
Fcgr2b C T 1: 170,790,977 (GRCm39) probably null Het
Fsip2 T A 2: 82,809,061 (GRCm39) N1793K probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcnt3 A G 9: 69,942,169 (GRCm39) I133T probably damaging Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Hoxa1 T A 6: 52,135,021 (GRCm39) I61F probably damaging Het
Impact C T 18: 13,115,169 (GRCm39) L102F probably damaging Het
Ist1 A T 8: 110,404,284 (GRCm39) I196N probably damaging Het
Kcnv2 T A 19: 27,311,282 (GRCm39) S550T probably benign Het
Krt1c A T 15: 101,726,314 (GRCm39) S75T unknown Het
Krtap21-1 A G 16: 89,200,466 (GRCm39) S59P unknown Het
Lef1 A T 3: 130,905,223 (GRCm39) I35F probably damaging Het
Lpcat2 A C 8: 93,599,707 (GRCm39) N225T probably damaging Het
Lztfl1 A T 9: 123,538,649 (GRCm39) N142K probably benign Het
Mdh1b G A 1: 63,760,975 (GRCm39) H88Y probably benign Het
Mettl26 A G 17: 26,095,658 (GRCm39) D171G probably damaging Het
Mrps24 A T 11: 5,654,663 (GRCm39) M97K probably benign Het
Ms4a14 A T 19: 11,279,499 (GRCm39) C1020S probably benign Het
Mterf1a A T 5: 3,940,854 (GRCm39) I338K probably benign Het
Odad2 A T 18: 7,294,479 (GRCm39) Y45N probably benign Het
Or1e22 A G 11: 73,377,299 (GRCm39) I117T probably benign Het
Or4p20 T C 2: 88,254,156 (GRCm39) Y71C possibly damaging Het
Or52s1b T A 7: 102,822,442 (GRCm39) H134L probably damaging Het
Or7g12 T A 9: 18,899,689 (GRCm39) I135N probably damaging Het
Paqr3 T A 5: 97,256,146 (GRCm39) H76L probably damaging Het
Parp1 T A 1: 180,417,071 (GRCm39) Y618* probably null Het
Pilrb2 C T 5: 137,870,049 (GRCm39) probably benign Het
Pkm A G 9: 59,575,853 (GRCm39) N90D probably damaging Het
Pla2g4c T G 7: 13,078,459 (GRCm39) probably null Het
Plppr4 C T 3: 117,116,667 (GRCm39) V339I probably damaging Het
Pnkp T A 7: 44,510,462 (GRCm39) D304E probably damaging Het
Pnlip T C 19: 58,668,067 (GRCm39) probably null Het
Polr2a A G 11: 69,638,026 (GRCm39) C148R probably damaging Het
Ppp1r10 G A 17: 36,240,443 (GRCm39) G578S probably benign Het
Ptges2 C T 2: 32,287,683 (GRCm39) T137I possibly damaging Het
Ptpre T C 7: 135,270,877 (GRCm39) V344A possibly damaging Het
Rag1 A G 2: 101,472,137 (GRCm39) F1002L probably damaging Het
Rcn2 T A 9: 55,960,298 (GRCm39) Y188* probably null Het
Rest A G 5: 77,416,046 (GRCm39) S87G probably damaging Het
Rgsl1 C T 1: 153,675,568 (GRCm39) D913N probably damaging Het
Scp2 A G 4: 107,928,475 (GRCm39) M1T probably null Het
Slamf8 T A 1: 172,415,590 (GRCm39) N83Y probably damaging Het
Slc26a11 T A 11: 119,248,844 (GRCm39) F75Y possibly damaging Het
Slc26a5 A G 5: 22,045,570 (GRCm39) S133P probably damaging Het
Sncb A T 13: 54,910,487 (GRCm39) V83E probably damaging Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Trim38 A G 13: 23,973,502 (GRCm39) N277D probably benign Het
Vmn1r189 C T 13: 22,286,628 (GRCm39) G70S probably damaging Het
Vmn2r-ps117 A G 17: 19,058,495 (GRCm39) R684G probably benign Het
Wdr59 T C 8: 112,187,420 (GRCm39) N792D possibly damaging Het
Wnt5a A G 14: 28,244,527 (GRCm39) D238G possibly damaging Het
Zbtb42 C A 12: 112,646,824 (GRCm39) T333K probably damaging Het
Zfp119b A G 17: 56,245,564 (GRCm39) S509P probably benign Het
Zfp365 T A 10: 67,745,594 (GRCm39) K61N probably damaging Het
Zfp553 T C 7: 126,835,825 (GRCm39) F460S probably damaging Het
Zfp788 C T 7: 41,299,301 (GRCm39) Q594* probably null Het
Zfp984 T A 4: 147,845,707 (GRCm39) M1L possibly damaging Het
Zmiz2 T A 11: 6,347,566 (GRCm39) Y291* probably null Het
Other mutations in B4galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:B4galt2 APN 4 117,734,378 (GRCm39) missense probably damaging 0.99
IGL02207:B4galt2 APN 4 117,738,718 (GRCm39) missense probably damaging 1.00
IGL02224:B4galt2 APN 4 117,734,110 (GRCm39) missense probably benign 0.00
IGL02724:B4galt2 APN 4 117,734,075 (GRCm39) critical splice donor site probably null
IGL02949:B4galt2 APN 4 117,738,602 (GRCm39) missense probably benign 0.05
R1164:B4galt2 UTSW 4 117,734,141 (GRCm39) missense possibly damaging 0.96
R1534:B4galt2 UTSW 4 117,734,669 (GRCm39) missense probably damaging 1.00
R4715:B4galt2 UTSW 4 117,734,376 (GRCm39) missense possibly damaging 0.92
R5640:B4galt2 UTSW 4 117,731,195 (GRCm39) missense probably benign
R6492:B4galt2 UTSW 4 117,734,164 (GRCm39) missense probably damaging 0.99
R7126:B4galt2 UTSW 4 117,734,735 (GRCm39) missense probably damaging 1.00
R9220:B4galt2 UTSW 4 117,734,399 (GRCm39) missense probably damaging 1.00
R9467:B4galt2 UTSW 4 117,738,123 (GRCm39) missense probably damaging 1.00
Z1177:B4galt2 UTSW 4 117,738,266 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACCCTTAGAGCAGCTGTCAG -3'
(R):5'- TTTCTGACTGAAGGGGCTGC -3'

Sequencing Primer
(F):5'- TTAGAGCAGCTGTCAGCCAGG -3'
(R):5'- CTGCGGTCTTTATTTTGAGAGC -3'
Posted On 2018-11-28