Incidental Mutation 'R9357:Gcnt2'
ID 708471
Institutional Source Beutler Lab
Gene Symbol Gcnt2
Ensembl Gene ENSMUSG00000021360
Gene Name glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
Synonyms IGnTB, IGnT, IGnTA, IGnTC, 5330430K10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R9357 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 40859754-40960892 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40888256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 297 (H297L)
Ref Sequence ENSEMBL: ENSMUSP00000070942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069958] [ENSMUST00000110191]
AlphaFold P97402
Predicted Effect possibly damaging
Transcript: ENSMUST00000069958
AA Change: H297L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070942
Gene: ENSMUSG00000021360
AA Change: H297L

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:Branch 95 357 8.4e-60 PFAM
low complexity region 377 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110191
SMART Domains Protein: ENSMUSP00000105820
Gene: ENSMUSG00000021360

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Branch 95 357 5.2e-61 PFAM
low complexity region 377 386 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show hypoactivity, a reduced B cell number, epidermoid cyst formation in male abdominal skin, and impaired renal function with increased blood urea nitrogen and creatinine levels and vacuolization of renal tubular epithelial cells in aging mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,010,870 V900A probably benign Het
Adam28 C T 14: 68,642,030 A190T probably benign Het
Ager T C 17: 34,598,567 V116A probably damaging Het
Agt G T 8: 124,564,326 H81N probably benign Het
Apc2 T C 10: 80,311,038 V642A probably damaging Het
Atg4b C T 1: 93,785,926 T325M probably damaging Het
Atp10b A G 11: 43,259,884 S1470G probably benign Het
Cacul1 A G 19: 60,545,504 I220T probably benign Het
Ccdc7a T C 8: 128,944,655 probably null Het
Cnnm1 A C 19: 43,441,388 D315A probably damaging Het
Fam46a A T 9: 85,326,619 N50K probably benign Het
Fbxo24 A G 5: 137,612,834 F565L probably damaging Het
Fpr-rs4 T A 17: 18,021,949 S73T probably damaging Het
Gbp7 T C 3: 142,543,128 V384A probably benign Het
Glo1 T C 17: 30,612,544 E3G probably benign Het
Gsdmc4 T C 15: 63,900,347 D161G probably benign Het
Ifi213 T A 1: 173,568,826 M561L probably benign Het
Ighv1-63 A G 12: 115,495,858 S40P probably damaging Het
Itpr2 A G 6: 146,359,316 L971P probably damaging Het
Lrp2 A T 2: 69,506,573 I1285N probably damaging Het
Map1b A T 13: 99,430,200 Y2004* probably null Het
Mindy1 C T 3: 95,295,279 L394F probably benign Het
Mug1 A G 6: 121,875,491 D846G probably benign Het
Myh7b A G 2: 155,621,348 E500G probably damaging Het
Myo18a C T 11: 77,842,188 T1348M probably damaging Het
Myo7b A T 18: 31,960,076 I2027N probably damaging Het
Neb T C 2: 52,179,568 probably null Het
Obscn G A 11: 59,038,766 R5208C probably damaging Het
Parg G A 14: 32,274,917 D827N probably damaging Het
Pcdha6 A T 18: 36,969,173 H473L probably benign Het
Pde4dip A G 3: 97,718,329 S1318P probably benign Het
Ppan T C 9: 20,889,924 S166P possibly damaging Het
Ppargc1b C A 18: 61,315,868 A128S probably damaging Het
Rdh16f2 T A 10: 127,877,046 D304E possibly damaging Het
Sh3pxd2a A T 19: 47,272,009 L435Q probably damaging Het
Slc35d1 A T 4: 103,208,136 Y183N Het
Sspo T C 6: 48,467,055 S2166P possibly damaging Het
Twf2 T C 9: 106,214,901 F319S probably benign Het
Ush2a C T 1: 188,874,950 T4014M probably benign Het
Vmn1r3 T G 4: 3,185,149 T53P probably damaging Het
Vmn2r76 T C 7: 86,231,220 E86G probably benign Het
Wdtc1 A G 4: 133,296,471 Y530H probably damaging Het
Xdh A G 17: 73,907,716 F745L probably damaging Het
Xdh A C 17: 73,926,546 probably null Het
Zfp358 T C 8: 3,495,568 L50P probably damaging Het
Other mutations in Gcnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Gcnt2 APN 13 40887863 missense probably benign 0.06
IGL01693:Gcnt2 APN 13 40888073 missense probably benign
IGL02506:Gcnt2 APN 13 40887380 missense probably benign 0.02
IGL03184:Gcnt2 APN 13 40888184 missense probably benign 0.01
BB001:Gcnt2 UTSW 13 40918564 nonsense probably null
BB011:Gcnt2 UTSW 13 40918564 nonsense probably null
PIT4472001:Gcnt2 UTSW 13 40917937 missense probably benign 0.39
R0358:Gcnt2 UTSW 13 40860853 missense probably damaging 0.99
R0734:Gcnt2 UTSW 13 40860521 missense probably benign 0.00
R1863:Gcnt2 UTSW 13 40861101 missense possibly damaging 0.95
R3103:Gcnt2 UTSW 13 40918606 missense probably benign 0.00
R3156:Gcnt2 UTSW 13 40861178 missense probably benign 0.36
R3893:Gcnt2 UTSW 13 40860446 missense probably benign 0.14
R4134:Gcnt2 UTSW 13 40887807 missense probably damaging 1.00
R4135:Gcnt2 UTSW 13 40887807 missense probably damaging 1.00
R4279:Gcnt2 UTSW 13 40888190 missense probably benign 0.17
R4422:Gcnt2 UTSW 13 40860525 nonsense probably null
R4599:Gcnt2 UTSW 13 40887490 missense probably benign
R4618:Gcnt2 UTSW 13 40958194 nonsense probably null
R4908:Gcnt2 UTSW 13 40860734 missense probably damaging 1.00
R5123:Gcnt2 UTSW 13 40918355 missense probably damaging 0.99
R5291:Gcnt2 UTSW 13 40918792 missense probably damaging 1.00
R5437:Gcnt2 UTSW 13 40861176 missense probably damaging 1.00
R5463:Gcnt2 UTSW 13 40918174 missense possibly damaging 0.80
R5471:Gcnt2 UTSW 13 40860719 missense probably damaging 1.00
R5472:Gcnt2 UTSW 13 40953579 missense probably benign 0.30
R5493:Gcnt2 UTSW 13 40953600 missense possibly damaging 0.70
R5586:Gcnt2 UTSW 13 40860953 missense probably damaging 1.00
R5695:Gcnt2 UTSW 13 40918199 missense probably benign 0.03
R6244:Gcnt2 UTSW 13 40861241 missense probably damaging 1.00
R6293:Gcnt2 UTSW 13 40918697 missense probably damaging 1.00
R7036:Gcnt2 UTSW 13 40887556 frame shift probably null
R7077:Gcnt2 UTSW 13 40860420 missense probably benign
R7432:Gcnt2 UTSW 13 40887212 intron probably benign
R7474:Gcnt2 UTSW 13 40958257 missense probably damaging 1.00
R7508:Gcnt2 UTSW 13 40887681 missense probably benign 0.02
R7599:Gcnt2 UTSW 13 40860867 nonsense probably null
R7678:Gcnt2 UTSW 13 40953719 missense probably benign 0.01
R7806:Gcnt2 UTSW 13 40918241 missense probably damaging 1.00
R7808:Gcnt2 UTSW 13 40860862 missense possibly damaging 0.81
R7909:Gcnt2 UTSW 13 40860450 missense probably benign 0.00
R7924:Gcnt2 UTSW 13 40918564 nonsense probably null
R8110:Gcnt2 UTSW 13 40917722 start gained probably benign
R8287:Gcnt2 UTSW 13 40860632 missense probably damaging 1.00
R8782:Gcnt2 UTSW 13 40918753 missense probably damaging 0.98
R8956:Gcnt2 UTSW 13 40887728 missense probably benign 0.30
R9225:Gcnt2 UTSW 13 40860860 missense probably damaging 1.00
Z1088:Gcnt2 UTSW 13 40918639 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGTACCTGAAAGGGCTTAAGG -3'
(R):5'- GGAAGTTTACACACATTCAATACAGAC -3'

Sequencing Primer
(F):5'- GCAAAGAGCTTTCCTACGTG -3'
(R):5'- CACATTCAATACAGACACATTGTTTG -3'
Posted On 2022-04-18