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-branching enzyme

Synonyms

IGnTB, IGnT, IGnTA, IGnTC, 5330430K10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40859754-40960892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40918753 bp (GRCm38)

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: 56,002,958		probably null	Het
Abhd16b	G	T	2: 181,494,415	R370L	probably benign	Het
Acox2	T	A	14: 8,250,035	T342S	probably damaging	Het
Adamts12	A	T	15: 11,237,592	Q329L	probably damaging	Het
Aimp1	T	C	3: 132,667,481	M233V	possibly damaging	Het
Atg16l1	A	G	1: 87,786,288	T474A	possibly damaging	Het
Atp1a1	T	C	3: 101,594,217	T57A	possibly damaging	Het
Bcat2	A	G	7: 45,585,493	D205G	probably benign	Het
Brd1	G	T	15: 88,730,631	C20*	probably null	Het
Camsap2	T	C	1: 136,277,219	M519V		Het
Caprin1	T	A	2: 103,772,788	T477S	probably benign	Het
Cdk5rap2	G	T	4: 70,243,475	Q1516K	possibly damaging	Het
Cep97	T	C	16: 55,905,721	D673G	probably benign	Het
Chat	A	T	14: 32,424,198	D339E	probably benign	Het
Col28a1	G	A	6: 8,175,227	S207F	unknown	Het
Commd10	T	A	18: 46,963,742	L72Q	probably damaging	Het
Crim1	T	C	17: 78,200,877	C37R	probably damaging	Het
Csgalnact1	T	A	8: 68,358,655	K454N	probably damaging	Het
Ctif	G	T	18: 75,521,797	H219Q	probably benign	Het
Ddx10	A	T	9: 53,235,288	F211L	probably damaging	Het
Dhrs2	A	T	14: 55,236,081	I66F	possibly damaging	Het
Dmtf1	A	T	5: 9,129,168	D343E	probably damaging	Het
Fam120b	A	T	17: 15,402,210	Q150L	probably damaging	Het
Fam217a	G	A	13: 34,911,050	P242L	probably benign	Het
Gm14305	T	G	2: 176,721,420	C368W	possibly damaging	Het
Gpr158	A	G	2: 21,399,338	D307G	probably damaging	Het
Hcls1	A	G	16: 36,957,301	M261V	probably benign	Het
Hmcn1	A	G	1: 150,664,885	M2891T	probably benign	Het
Ighv1-31	A	T	12: 114,829,685	W5R	possibly damaging	Het
Impg2	A	G	16: 56,259,455	T541A	probably damaging	Het
Ints1	A	T	5: 139,759,197	L1452Q	probably benign	Het
Kcnc2	T	A	10: 112,456,532	S542T	probably benign	Het
Kif18a	C	T	2: 109,296,773	R351C	probably damaging	Het
Lactbl1	T	G	4: 136,631,018	L100R	possibly damaging	Het
Loxl3	T	C	6: 83,048,070	S260P	probably benign	Het
Lrba	A	T	3: 86,642,669	Y2315F	probably benign	Het
Lrrc32	A	T	7: 98,499,063	N350I	probably damaging	Het
Lyn	C	A	4: 3,783,055	F429L	probably damaging	Het
Matk	A	G	10: 81,262,460	K402E	probably damaging	Het
Mau2	T	C	8: 70,033,195	E121G	possibly damaging	Het
Mrgprx2	A	G	7: 48,482,551	L173P	probably damaging	Het
Mroh1	A	G	15: 76,414,296	T369A	possibly damaging	Het
Myh6	A	G	14: 54,949,900	L1308P	possibly damaging	Het
Nbeal2	T	C	9: 110,630,805	D1895G	probably benign	Het
Ncr1	A	G	7: 4,337,764	T6A	probably benign	Het
Neb	T	A	2: 52,188,773	E5819D	probably benign	Het
Neurod4	T	C	10: 130,271,079	N109D	probably damaging	Het
Nsd2	A	T	5: 33,843,141	M1L	probably benign	Het
Nwd2	A	G	5: 63,725,197	Y64C	probably damaging	Het
Olfm2	T	A	9: 20,668,205	N417Y	probably damaging	Het
Olfr272	T	A	4: 52,911,693	M34L	probably benign	Het
Olfr491	A	T	7: 108,317,089	H65L	probably damaging	Het
Oog3	T	A	4: 144,159,392	D212V	probably benign	Het
Parp1	A	G	1: 180,589,562	K637R	probably benign	Het
Pcdhga3	T	C	18: 37,674,812	L106P	probably damaging	Het
Pdk4	T	C	6: 5,494,962	N67S	possibly damaging	Het
Plcxd3	A	G	15: 4,516,768	T85A	probably benign	Het
Plxna1	T	C	6: 89,323,238	Y1621C	probably damaging	Het
Pnliprp1	T	A	19: 58,730,593	M108K	probably damaging	Het
Pou3f1	GCACCACCACCACCACCAC	GCACCACCACCACCAC	4: 124,659,014		probably benign	Het
Prl8a1	A	T	13: 27,574,028	C233S	probably damaging	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Sgo2a	T	A	1: 58,017,457		probably benign	Het
Sh3tc1	A	T	5: 35,714,204	M328K	possibly damaging	Het
Sim1	A	G	10: 50,896,069	E58G	probably benign	Het
Slc35e3	A	G	10: 117,744,893	Y169H	probably damaging	Het
Slc8a1	T	C	17: 81,648,013	D532G	probably damaging	Het
Speer4a	T	A	5: 26,036,756	H124L	probably benign	Het
Stab2	T	A	10: 86,899,821	T1299S	probably benign	Het
Tesmin	T	C	19: 3,395,965	V237A	probably benign	Het
Trappc11	A	T	8: 47,498,666	I984N	probably benign	Het
Ube2q2	G	A	9: 55,163,070		probably null	Het
Vmn1r169	A	G	7: 23,577,978	D265G	possibly damaging	Het
Vps13b	G	T	15: 35,422,337	V148L	possibly damaging	Het
Vwce	T	C	19: 10,638,127	V124A	probably benign	Het
Wdr60	C	T	12: 116,241,712	R419H	probably damaging	Het
Zc3h15	G	A	2: 83,661,443	R292H	probably benign	Het

Other mutations in Gcnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8956:Gcnt2	UTSW	13	40887728	missense	probably benign	0.30
R9225:Gcnt2	UTSW	13	40860860	missense	probably damaging	1.00
R9357:Gcnt2	UTSW	13	40888256	missense	possibly damaging	0.92
Z1088:Gcnt2	UTSW	13	40918639	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