Incidental Mutation 'R7036:Gcnt2'
ID 546711
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 045012-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R7036 (G1)
Quality Score 217.468
Status Not validated
Chromosome 13
Chromosomal Location 41013417-41114368 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTAATG to C at 41041032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000070942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069958] [ENSMUST00000110191]
AlphaFold P97402
Predicted Effect probably null
Transcript: ENSMUST00000069958
SMART Domains Protein: ENSMUSP00000070942
Gene: ENSMUSG00000021360

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: 99.2%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,445,118 (GRCm39) probably null Het
Ahnak2 A G 12: 112,745,216 (GRCm39) probably benign Het
Akt2 T C 7: 27,336,437 (GRCm39) probably null Het
Aldh1a7 A T 19: 20,685,542 (GRCm39) L336Q possibly damaging Het
Ank2 T C 3: 126,740,041 (GRCm39) probably benign Het
Ank3 C T 10: 69,835,209 (GRCm39) T680M probably damaging Het
Apeh T C 9: 107,971,470 (GRCm39) E59G possibly damaging Het
Arl8a G C 1: 135,082,206 (GRCm39) E145Q probably benign Het
Armc8 C T 9: 99,366,018 (GRCm39) probably null Het
Armh3 A G 19: 45,953,688 (GRCm39) I195T probably damaging Het
Arsj T C 3: 126,158,649 (GRCm39) L76P probably damaging Het
Atp2b1 C T 10: 98,823,172 (GRCm39) T244I probably damaging Het
Bcl6 A T 16: 23,793,611 (GRCm39) L112Q probably damaging Het
Bfsp1 T A 2: 143,668,843 (GRCm39) T579S possibly damaging Het
Btaf1 C A 19: 36,981,869 (GRCm39) T1633K probably benign Het
Cacng8 A G 7: 3,463,819 (GRCm39) S324G probably benign Het
Cd2ap A T 17: 43,109,490 (GRCm39) L623Q probably damaging Het
Cerkl T C 2: 79,171,722 (GRCm39) I379V probably benign Het
Cndp2 T A 18: 84,688,070 (GRCm39) H307L possibly damaging Het
Derl1 A G 15: 57,742,443 (GRCm39) probably null Het
Dixdc1 T A 9: 50,593,864 (GRCm39) R254S probably benign Het
Dop1b T A 16: 93,574,378 (GRCm39) D30E probably benign Het
Duox2 T G 2: 122,110,934 (GRCm39) H1513P probably damaging Het
Dyrk1a G A 16: 94,487,427 (GRCm39) V546I probably benign Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Emc8 A T 8: 121,385,790 (GRCm39) V108E probably benign Het
Epb41l1 A G 2: 156,371,322 (GRCm39) T720A probably benign Het
Fcgr4 T A 1: 170,847,657 (GRCm39) M85K probably benign Het
Fem1b T A 9: 62,704,310 (GRCm39) I317F probably damaging Het
Focad A G 4: 88,042,874 (GRCm39) E36G probably benign Het
Fryl C T 5: 73,212,951 (GRCm39) E2275K probably benign Het
Galnt11 T C 5: 25,463,811 (GRCm39) I361T probably damaging Het
Garin3 G A 11: 46,298,235 (GRCm39) S513N Het
Gatad2a A T 8: 70,370,644 (GRCm39) N114K probably damaging Het
Gramd1a A G 7: 30,832,181 (GRCm39) probably null Het
Gsn T A 2: 35,182,611 (GRCm39) W187R probably damaging Het
Hoxc12 G A 15: 102,846,795 (GRCm39) G229D probably damaging Het
Hycc2 T A 1: 58,574,696 (GRCm39) M282L probably benign Het
Ints14 T C 9: 64,871,827 (GRCm39) V55A probably benign Het
Itga9 T C 9: 118,527,433 (GRCm39) L528P probably benign Het
Klf1 C T 8: 85,629,379 (GRCm39) S68F possibly damaging Het
Kmt2e A G 5: 23,683,741 (GRCm39) E333G probably null Het
Krt39 A C 11: 99,412,062 (GRCm39) V8G probably benign Het
Krt71 A G 15: 101,646,772 (GRCm39) I312T probably benign Het
Lrp1b T C 2: 41,002,354 (GRCm39) D2001G possibly damaging Het
Lrrc37 T A 11: 103,506,638 (GRCm39) probably benign Het
Lrrc71 T C 3: 87,655,693 (GRCm39) T27A probably benign Het
Lrrcc1 T C 3: 14,628,069 (GRCm39) V958A possibly damaging Het
Med15 A T 16: 17,516,019 (GRCm39) M1K probably null Het
Mrgpra3 G T 7: 47,239,838 (GRCm39) N29K possibly damaging Het
Myl1 T C 1: 66,969,395 (GRCm39) N79S probably damaging Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Nat10 T C 2: 103,584,453 (GRCm39) N108S probably benign Het
Ncald A T 15: 37,369,122 (GRCm39) S178T probably benign Het
Ndufs2 T C 1: 171,065,877 (GRCm39) D256G probably benign Het
Nek5 T C 8: 22,597,739 (GRCm39) N280S probably benign Het
Or5ak25 A G 2: 85,268,774 (GRCm39) S243P probably damaging Het
Or5d39 T A 2: 87,979,469 (GRCm39) D298V probably damaging Het
Parp1 G T 1: 180,425,817 (GRCm39) K849N possibly damaging Het
Pcdhb4 T A 18: 37,441,835 (GRCm39) C382S possibly damaging Het
Plce1 A G 19: 38,727,801 (GRCm39) N1520S probably damaging Het
Plcg2 G A 8: 118,323,045 (GRCm39) R700H probably benign Het
Popdc2 A T 16: 38,183,173 (GRCm39) Y52F probably damaging Het
Prrx1 T A 1: 163,075,907 (GRCm39) M220L probably benign Het
Pspc1 A C 14: 56,996,085 (GRCm39) probably null Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptpn20 A G 14: 33,336,392 (GRCm39) *44W probably null Het
Qars1 T A 9: 108,391,976 (GRCm39) V83E probably damaging Het
Rrh T C 3: 129,609,342 (GRCm39) E55G possibly damaging Het
Sash1 C A 10: 8,605,847 (GRCm39) E848* probably null Het
Sds A T 5: 120,618,912 (GRCm39) K125M possibly damaging Het
Serpinf2 A T 11: 75,329,244 (GRCm39) probably benign Het
Sh2b2 G A 5: 136,247,739 (GRCm39) T604I probably benign Het
Smug1 A G 15: 103,064,369 (GRCm39) L184P probably damaging Het
Spatc1 A G 15: 76,168,080 (GRCm39) T180A probably benign Het
Ssr1 A T 13: 38,178,001 (GRCm39) L20Q probably null Het
Supt4a A G 11: 87,634,084 (GRCm39) E100G probably damaging Het
Tbx1 G T 16: 18,405,551 (GRCm39) P38T unknown Het
Tcl1 T C 12: 105,183,860 (GRCm39) probably benign Het
Teddm2 T C 1: 153,726,320 (GRCm39) I132V probably benign Het
Tmem131 C T 1: 36,832,054 (GRCm39) G1861E possibly damaging Het
Tpr A T 1: 150,299,358 (GRCm39) H1186L probably benign Het
Trim34b A T 7: 103,978,743 (GRCm39) probably benign Het
Trpm2 T C 10: 77,748,426 (GRCm39) M1415V probably benign Het
Ttll12 A G 15: 83,471,086 (GRCm39) F264S probably benign Het
Vmn2r59 T C 7: 41,695,644 (GRCm39) E256G probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Vps35l T C 7: 118,372,315 (GRCm39) S290P probably damaging Het
Wdr70 T C 15: 7,913,855 (GRCm39) D598G possibly damaging Het
Ybey T C 10: 76,304,197 (GRCm39) S2G possibly damaging Het
Zfp346 A T 13: 55,280,200 (GRCm39) Q308L probably benign Het
Zfp872 C T 9: 22,111,856 (GRCm39) P445L 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
R5437:Gcnt2 UTSW 13 41,014,652 (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
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'- ATTGGCCAAGCTTGACGGAC -3'
(R):5'- TTTTGAGGCATGAAGATTGCC -3'

Sequencing Primer
(F):5'- TGACATCGGAGACCCTCTTTGAG -3'
(R):5'- AGATTGCCCTGAAGAGCCTTG -3'
Posted On 2019-05-13