Incidental Mutation 'R5437:Gcnt2'
ID 428441
Institutional Source Beutler Lab
Gene Symbol Gcnt2
Ensembl Gene ENSMUSG00000021360
Gene Name glucosaminyl (N-acetyl) transferase 2 (I blood group)
Synonyms 5330430K10Rik, IGnTB, IGnT, IGnTA, IGnTC
MMRRC Submission 043002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5437 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41013417-41114368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41014652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 274 (F274L)
Ref Sequence ENSEMBL: ENSMUSP00000105820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110191]
AlphaFold P97402
Predicted Effect probably damaging
Transcript: ENSMUST00000110191
AA Change: F274L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105820
Gene: ENSMUSG00000021360
AA Change: F274L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175528
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (63/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Acaca G A 11: 84,237,646 (GRCm39) probably null Het
Acsm3 C A 7: 119,377,720 (GRCm39) probably benign Het
Aoc1 C A 6: 48,884,684 (GRCm39) Q576K probably benign Het
Atp6v0a4 T A 6: 38,053,668 (GRCm39) N378I probably damaging Het
Cacna1i A T 15: 80,255,730 (GRCm39) H871L probably damaging Het
Clic4 C G 4: 134,944,557 (GRCm39) R206P probably damaging Het
Commd9 G A 2: 101,731,373 (GRCm39) G186D probably damaging Het
Cpne9 C T 6: 113,281,591 (GRCm39) probably benign Het
Crhr2 C T 6: 55,077,718 (GRCm39) V196I probably damaging Het
Dctn5 T A 7: 121,732,552 (GRCm39) probably benign Het
Dhtkd1 C T 2: 5,928,930 (GRCm39) R247Q probably benign Het
Dmrta1 G A 4: 89,579,993 (GRCm39) G318R possibly damaging Het
Dpp6 T A 5: 27,868,499 (GRCm39) Y487* probably null Het
Eef1akmt3 A T 10: 126,869,116 (GRCm39) N119K probably damaging Het
Eloa A T 4: 135,740,196 (GRCm39) L75Q probably damaging Het
Fat3 G A 9: 15,996,604 (GRCm39) T1202M probably damaging Het
Fcho2 A G 13: 98,913,982 (GRCm39) I205T possibly damaging Het
Fkbp10 A C 11: 100,311,849 (GRCm39) D174A probably damaging Het
Gtf3c1 A T 7: 125,266,540 (GRCm39) C969S probably damaging Het
Hook3 T C 8: 26,551,450 (GRCm39) E130G probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Itsn1 T A 16: 91,615,479 (GRCm39) probably benign Het
Kif13b C T 14: 65,043,563 (GRCm39) R1788C probably damaging Het
Kif3a C T 11: 53,489,553 (GRCm39) S135F probably damaging Het
Klf5 C T 14: 99,538,895 (GRCm39) R23* probably null Het
Lcn5 A G 2: 25,548,023 (GRCm39) I11V probably benign Het
Mpp7 A T 18: 7,458,930 (GRCm39) probably null Het
Mroh5 T C 15: 73,659,818 (GRCm39) I338V probably benign Het
Mthfd2l A G 5: 91,096,757 (GRCm39) N126S possibly damaging Het
Myo18b G T 5: 112,905,439 (GRCm39) A2053E possibly damaging Het
Naip6 A T 13: 100,439,812 (GRCm39) C318* probably null Het
Ndufs7 C T 10: 80,090,758 (GRCm39) R116C possibly damaging Het
Odr4 T G 1: 150,239,269 (GRCm39) I385L probably benign Het
Or1ad6 T C 11: 50,859,935 (GRCm39) M30T probably benign Het
Pnkd T C 1: 74,388,896 (GRCm39) V214A possibly damaging Het
Popdc2 T G 16: 38,183,263 (GRCm39) V82G probably benign Het
Prkdc A T 16: 15,587,739 (GRCm39) L2541F possibly damaging Het
Ptpn9 A T 9: 56,927,321 (GRCm39) H66L possibly damaging Het
Pygm T A 19: 6,440,412 (GRCm39) N397K probably damaging Het
Rabgap1l T A 1: 160,549,717 (GRCm39) E324D probably damaging Het
Rnf6 G A 5: 146,147,090 (GRCm39) R643C probably damaging Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scn7a A G 2: 66,506,690 (GRCm39) Y1400H probably damaging Het
Septin10 T A 10: 59,012,781 (GRCm39) N279I probably damaging Het
Sh3rf2 A T 18: 42,274,079 (GRCm39) Y415F probably benign Het
Sorcs1 T C 19: 50,241,040 (GRCm39) T449A probably benign Het
Tcam1 C T 11: 106,176,249 (GRCm39) T325M probably damaging Het
Tctn1 A G 5: 122,396,942 (GRCm39) I147T probably benign Het
Tet1 G T 10: 62,650,230 (GRCm39) H30Q probably benign Het
Tmem109 A G 19: 10,849,378 (GRCm39) I159T probably damaging Het
Tmem40 C T 6: 115,735,992 (GRCm39) probably benign Het
Tnfrsf21 C T 17: 43,348,753 (GRCm39) P122S possibly damaging Het
Uaca A G 9: 60,778,733 (GRCm39) D1038G probably benign Het
Ubr2 C G 17: 47,274,623 (GRCm39) E852D probably benign Het
Ubr3 A T 2: 69,774,734 (GRCm39) N518I probably damaging Het
Unc80 T G 1: 66,693,737 (GRCm39) L2596R possibly damaging Het
Zcchc3 G A 2: 152,256,652 (GRCm39) P16S probably benign Het
Other mutations in Gcnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Gcnt2 APN 13 41,041,339 (GRCm39) missense probably benign 0.06
IGL01693:Gcnt2 APN 13 41,041,549 (GRCm39) missense probably benign
IGL02506:Gcnt2 APN 13 41,040,856 (GRCm39) missense probably benign 0.02
IGL03184:Gcnt2 APN 13 41,041,660 (GRCm39) missense probably benign 0.01
BB001:Gcnt2 UTSW 13 41,072,040 (GRCm39) nonsense probably null
BB011:Gcnt2 UTSW 13 41,072,040 (GRCm39) nonsense probably null
PIT4472001:Gcnt2 UTSW 13 41,071,413 (GRCm39) missense probably benign 0.39
R0358:Gcnt2 UTSW 13 41,014,329 (GRCm39) missense probably damaging 0.99
R0734:Gcnt2 UTSW 13 41,013,997 (GRCm39) missense probably benign 0.00
R1863:Gcnt2 UTSW 13 41,014,577 (GRCm39) missense possibly damaging 0.95
R3103:Gcnt2 UTSW 13 41,072,082 (GRCm39) missense probably benign 0.00
R3156:Gcnt2 UTSW 13 41,014,654 (GRCm39) missense probably benign 0.36
R3893:Gcnt2 UTSW 13 41,013,922 (GRCm39) missense probably benign 0.14
R4134:Gcnt2 UTSW 13 41,041,283 (GRCm39) missense probably damaging 1.00
R4135:Gcnt2 UTSW 13 41,041,283 (GRCm39) missense probably damaging 1.00
R4279:Gcnt2 UTSW 13 41,041,666 (GRCm39) missense probably benign 0.17
R4422:Gcnt2 UTSW 13 41,014,001 (GRCm39) nonsense probably null
R4599:Gcnt2 UTSW 13 41,040,966 (GRCm39) missense probably benign
R4618:Gcnt2 UTSW 13 41,111,670 (GRCm39) nonsense probably null
R4908:Gcnt2 UTSW 13 41,014,210 (GRCm39) missense probably damaging 1.00
R5123:Gcnt2 UTSW 13 41,071,831 (GRCm39) missense probably damaging 0.99
R5291:Gcnt2 UTSW 13 41,072,268 (GRCm39) missense probably damaging 1.00
R5463:Gcnt2 UTSW 13 41,071,650 (GRCm39) missense possibly damaging 0.80
R5471:Gcnt2 UTSW 13 41,014,195 (GRCm39) missense probably damaging 1.00
R5472:Gcnt2 UTSW 13 41,107,055 (GRCm39) missense probably benign 0.30
R5493:Gcnt2 UTSW 13 41,107,076 (GRCm39) missense possibly damaging 0.70
R5586:Gcnt2 UTSW 13 41,014,429 (GRCm39) missense probably damaging 1.00
R5695:Gcnt2 UTSW 13 41,071,675 (GRCm39) missense probably benign 0.03
R6244:Gcnt2 UTSW 13 41,014,717 (GRCm39) missense probably damaging 1.00
R6293:Gcnt2 UTSW 13 41,072,173 (GRCm39) missense probably damaging 1.00
R7036:Gcnt2 UTSW 13 41,041,032 (GRCm39) frame shift probably null
R7077:Gcnt2 UTSW 13 41,013,896 (GRCm39) missense probably benign
R7432:Gcnt2 UTSW 13 41,040,688 (GRCm39) intron probably benign
R7474:Gcnt2 UTSW 13 41,111,733 (GRCm39) missense probably damaging 1.00
R7508:Gcnt2 UTSW 13 41,041,157 (GRCm39) missense probably benign 0.02
R7599:Gcnt2 UTSW 13 41,014,343 (GRCm39) nonsense probably null
R7678:Gcnt2 UTSW 13 41,107,195 (GRCm39) missense probably benign 0.01
R7806:Gcnt2 UTSW 13 41,071,717 (GRCm39) missense probably damaging 1.00
R7808:Gcnt2 UTSW 13 41,014,338 (GRCm39) missense possibly damaging 0.81
R7909:Gcnt2 UTSW 13 41,013,926 (GRCm39) missense probably benign 0.00
R7924:Gcnt2 UTSW 13 41,072,040 (GRCm39) nonsense probably null
R8110:Gcnt2 UTSW 13 41,071,198 (GRCm39) start gained probably benign
R8287:Gcnt2 UTSW 13 41,014,108 (GRCm39) missense probably damaging 1.00
R8782:Gcnt2 UTSW 13 41,072,229 (GRCm39) missense probably damaging 0.98
R8956:Gcnt2 UTSW 13 41,041,204 (GRCm39) missense probably benign 0.30
R9225:Gcnt2 UTSW 13 41,014,336 (GRCm39) missense probably damaging 1.00
R9357:Gcnt2 UTSW 13 41,041,732 (GRCm39) missense possibly damaging 0.92
Z1088:Gcnt2 UTSW 13 41,072,115 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATTGGGAAGAACCTCACCCCAG -3'
(R):5'- ACAGACACAGAGGCTCATCTG -3'

Sequencing Primer
(F):5'- CAGGGGTGCTGCCTCCTG -3'
(R):5'- CAGAGGCTCATCTGAAATCTCTG -3'
Posted On 2016-09-01