Mutagenetix > Incidental Mutation

Incidental Mutation 'R8782:Gcnt2'

670347

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

068630-MU

Accession Numbers

Essential gene?

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

Stock #

R8782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41013417-41114368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41072229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 291 (T291A)

Ref Sequence

ENSEMBL: ENSMUSP00000066467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067778] [ENSMUST00000069958] [ENSMUST00000110191] [ENSMUST00000225759]

AlphaFold

P97402

Predicted Effect

probably damaging
Transcript: ENSMUST00000067778
AA Change: T291A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066467
Gene: ENSMUSG00000021360
AA Change: T291A

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Branch	95	357	4.2e-58	PFAM
low complexity region	377	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069958

SMART Domains

Protein: ENSMUSP00000070942
Gene: ENSMUSG00000021360

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225759
AA Change: T291A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	G	9: 55,910,242 (GRCm39)		probably null	Het
Abhd16b	G	T	2: 181,136,208 (GRCm39)	R370L	probably benign	Het
Acox2	T	A	14: 8,250,035 (GRCm38)	T342S	probably damaging	Het
Adamts12	A	T	15: 11,237,678 (GRCm39)	Q329L	probably damaging	Het
Aimp1	T	C	3: 132,373,242 (GRCm39)	M233V	possibly damaging	Het
Atg16l1	A	G	1: 87,714,010 (GRCm39)	T474A	possibly damaging	Het
Atp1a1	T	C	3: 101,501,533 (GRCm39)	T57A	possibly damaging	Het
Bcat2	A	G	7: 45,234,917 (GRCm39)	D205G	probably benign	Het
Brd1	G	T	15: 88,614,834 (GRCm39)	C20*	probably null	Het
Camsap2	T	C	1: 136,204,957 (GRCm39)	M519V		Het
Caprin1	T	A	2: 103,603,133 (GRCm39)	T477S	probably benign	Het
Cdk5rap2	G	T	4: 70,161,712 (GRCm39)	Q1516K	possibly damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chat	A	T	14: 32,146,155 (GRCm39)	D339E	probably benign	Het
Col28a1	G	A	6: 8,175,227 (GRCm39)	S207F	unknown	Het
Commd10	T	A	18: 47,096,809 (GRCm39)	L72Q	probably damaging	Het
Crim1	T	C	17: 78,508,306 (GRCm39)	C37R	probably damaging	Het
Csgalnact1	T	A	8: 68,811,307 (GRCm39)	K454N	probably damaging	Het
Ctif	G	T	18: 75,654,868 (GRCm39)	H219Q	probably benign	Het
Ddx10	A	T	9: 53,146,588 (GRCm39)	F211L	probably damaging	Het
Dhrs2	A	T	14: 55,473,538 (GRCm39)	I66F	possibly damaging	Het
Dmtf1	A	T	5: 9,179,168 (GRCm39)	D343E	probably damaging	Het
Dync2i1	C	T	12: 116,205,332 (GRCm39)	R419H	probably damaging	Het
Fam120b	A	T	17: 15,622,472 (GRCm39)	Q150L	probably damaging	Het
Fam217a	G	A	13: 35,095,033 (GRCm39)	P242L	probably benign	Het
Gm14305	T	G	2: 176,413,213 (GRCm39)	C368W	possibly damaging	Het
Gpr158	A	G	2: 21,404,149 (GRCm39)	D307G	probably damaging	Het
Hcls1	A	G	16: 36,777,663 (GRCm39)	M261V	probably benign	Het
Hmcn1	A	G	1: 150,540,636 (GRCm39)	M2891T	probably benign	Het
Ighv1-31	A	T	12: 114,793,305 (GRCm39)	W5R	possibly damaging	Het
Impg2	A	G	16: 56,079,818 (GRCm39)	T541A	probably damaging	Het
Ints1	A	T	5: 139,744,952 (GRCm39)	L1452Q	probably benign	Het
Kcnc2	T	A	10: 112,292,437 (GRCm39)	S542T	probably benign	Het
Kif18a	C	T	2: 109,127,118 (GRCm39)	R351C	probably damaging	Het
Lactbl1	T	G	4: 136,358,329 (GRCm39)	L100R	possibly damaging	Het
Loxl3	T	C	6: 83,025,051 (GRCm39)	S260P	probably benign	Het
Lrba	A	T	3: 86,549,976 (GRCm39)	Y2315F	probably benign	Het
Lrrc32	A	T	7: 98,148,270 (GRCm39)	N350I	probably damaging	Het
Lyn	C	A	4: 3,783,055 (GRCm39)	F429L	probably damaging	Het
Matk	A	G	10: 81,098,294 (GRCm39)	K402E	probably damaging	Het
Mau2	T	C	8: 70,485,845 (GRCm39)	E121G	possibly damaging	Het
Mrgprx2	A	G	7: 48,132,299 (GRCm39)	L173P	probably damaging	Het
Mroh1	A	G	15: 76,298,496 (GRCm39)	T369A	possibly damaging	Het
Myh6	A	G	14: 55,187,357 (GRCm39)	L1308P	possibly damaging	Het
Nbeal2	T	C	9: 110,459,873 (GRCm39)	D1895G	probably benign	Het
Ncr1	A	G	7: 4,340,763 (GRCm39)	T6A	probably benign	Het
Neb	T	A	2: 52,078,785 (GRCm39)	E5819D	probably benign	Het
Neurod4	T	C	10: 130,106,948 (GRCm39)	N109D	probably damaging	Het
Nsd2	A	T	5: 34,000,485 (GRCm39)	M1L	probably benign	Het
Nwd2	A	G	5: 63,882,540 (GRCm39)	Y64C	probably damaging	Het
Olfm2	T	A	9: 20,579,501 (GRCm39)	N417Y	probably damaging	Het
Oog3	T	A	4: 143,885,962 (GRCm39)	D212V	probably benign	Het
Or13c25	T	A	4: 52,911,693 (GRCm39)	M34L	probably benign	Het
Or5p1	A	T	7: 107,916,296 (GRCm39)	H65L	probably damaging	Het
Parp1	A	G	1: 180,417,127 (GRCm39)	K637R	probably benign	Het
Pcdhga3	T	C	18: 37,807,865 (GRCm39)	L106P	probably damaging	Het
Pdk4	T	C	6: 5,494,962 (GRCm39)	N67S	possibly damaging	Het
Plcxd3	A	G	15: 4,546,250 (GRCm39)	T85A	probably benign	Het
Plxna1	T	C	6: 89,300,220 (GRCm39)	Y1621C	probably damaging	Het
Pnliprp1	T	A	19: 58,719,025 (GRCm39)	M108K	probably damaging	Het
Pou3f1	GCACCACCACCACCACCAC	GCACCACCACCACCAC	4: 124,552,807 (GRCm39)		probably benign	Het
Prl8a1	A	T	13: 27,758,011 (GRCm39)	C233S	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Sgo2a	T	A	1: 58,056,616 (GRCm39)		probably benign	Het
Sh3tc1	A	T	5: 35,871,548 (GRCm39)	M328K	possibly damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc35e3	A	G	10: 117,580,798 (GRCm39)	Y169H	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Speer4a1	T	A	5: 26,241,754 (GRCm39)	H124L	probably benign	Het
Stab2	T	A	10: 86,735,685 (GRCm39)	T1299S	probably benign	Het
Tesmin	T	C	19: 3,445,965 (GRCm39)	V237A	probably benign	Het
Trappc11	A	T	8: 47,951,701 (GRCm39)	I984N	probably benign	Het
Ube2q2	G	A	9: 55,070,354 (GRCm39)		probably null	Het
Vmn1r169	A	G	7: 23,277,403 (GRCm39)	D265G	possibly damaging	Het
Vps13b	G	T	15: 35,422,483 (GRCm39)	V148L	possibly damaging	Het
Vwce	T	C	19: 10,615,491 (GRCm39)	V124A	probably benign	Het
Zc3h15	G	A	2: 83,491,787 (GRCm39)	R292H	probably benign	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
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
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
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'- TGTACACCAGGAACGCAAAG -3'
(R):5'- CACTCGTCATTTTCAGGGACC -3'

Sequencing Primer
(F):5'- AGGCAAAGACGGATATTTTATGC -3'
(R):5'- CGGACAGATGCTTTTGAGCC -3'

Posted On

2021-04-30