Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Gcnt2'

68169

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

038915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41013417-41114368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41013997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 56 (F56Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110191]

AlphaFold

P97402

Predicted Effect

probably benign
Transcript: ENSMUST00000110191
AA Change: F56Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105820
Gene: ENSMUSG00000021360
AA Change: F56Y

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
Pfam:Branch	95	357	5.2e-61	PFAM
low complexity region	377	386	N/A	INTRINSIC

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	Het

Other mutations in Gcnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGAAGACACTTGGCTCATTTCCTGC -3'
(R):5'- ACAGCTTAGTAACTGCCGCACC -3'

Sequencing Primer
(F):5'- CATTTCCTGCTTTGGGAAGATGG -3'
(R):5'- TGCACACAGTAGACGTTCTG -3'

Posted On

2013-09-03