Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Galnt2'

380910

Institutional Source

Beutler Lab

Gene Symbol

Galnt2

Ensembl Gene

ENSMUSG00000089704

Gene Name

polypeptide N-acetylgalactosaminyltransferase 2

Synonyms

ppGaNTase-T2

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124958133-125072461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125032362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 75 (D75G)

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034458] [ENSMUST00000127664]

AlphaFold

Q6PB93

Predicted Effect

probably damaging
Transcript: ENSMUST00000034458
AA Change: D109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: D109G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	25	39	N/A	INTRINSIC
Pfam:Glycos_transf_2	138	321	8.3e-31	PFAM
Pfam:Glyco_transf_7C	295	365	5.4e-8	PFAM
RICIN	440	565	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127664
AA Change: D75G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: D75G

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162325

Meta Mutation Damage Score

0.6365

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Allele List at MGI

None

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	probably damaging	Het

Other mutations in Galnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02187:Galnt2	APN	8	125,032,245 (GRCm39)	splice site	probably benign
IGL02638:Galnt2	APN	8	124,958,318 (GRCm39)	missense	probably damaging	0.98
chivalry	UTSW	8	125,061,025 (GRCm39)	nonsense	probably null
feudal	UTSW	8	125,058,837 (GRCm39)	critical splice donor site	probably null
gallantry	UTSW	8	125,067,561 (GRCm39)	missense	probably damaging	1.00
valor	UTSW	8	125,056,527 (GRCm39)	missense	probably damaging	1.00
P0018:Galnt2	UTSW	8	125,063,350 (GRCm39)	missense	probably damaging	1.00
R0133:Galnt2	UTSW	8	125,065,277 (GRCm39)	missense	probably benign	0.19
R0453:Galnt2	UTSW	8	125,065,323 (GRCm39)	splice site	probably benign
R0709:Galnt2	UTSW	8	125,070,085 (GRCm39)	missense	probably benign	0.01
R1015:Galnt2	UTSW	8	125,063,356 (GRCm39)	missense	probably benign
R4388:Galnt2	UTSW	8	125,022,192 (GRCm39)	critical splice donor site	probably null
R4400:Galnt2	UTSW	8	125,051,042 (GRCm39)	missense	probably damaging	1.00
R4447:Galnt2	UTSW	8	125,022,116 (GRCm39)	missense	probably benign	0.04
R4448:Galnt2	UTSW	8	125,022,116 (GRCm39)	missense	probably benign	0.04
R4449:Galnt2	UTSW	8	125,022,116 (GRCm39)	missense	probably benign	0.04
R4450:Galnt2	UTSW	8	125,022,116 (GRCm39)	missense	probably benign	0.04
R5536:Galnt2	UTSW	8	125,050,412 (GRCm39)	missense	probably damaging	1.00
R6218:Galnt2	UTSW	8	125,070,054 (GRCm39)	missense	probably benign	0.01
R6732:Galnt2	UTSW	8	125,067,561 (GRCm39)	missense	probably damaging	1.00
R6795:Galnt2	UTSW	8	125,070,175 (GRCm39)	missense	probably damaging	1.00
R6823:Galnt2	UTSW	8	125,050,750 (GRCm39)	missense	probably benign
R7173:Galnt2	UTSW	8	125,032,292 (GRCm39)	missense	probably benign	0.00
R7479:Galnt2	UTSW	8	125,061,077 (GRCm39)	missense	probably damaging	1.00
R7818:Galnt2	UTSW	8	125,056,527 (GRCm39)	missense	probably damaging	1.00
R7821:Galnt2	UTSW	8	125,070,134 (GRCm39)	missense	possibly damaging	0.51
R7831:Galnt2	UTSW	8	125,058,817 (GRCm39)	missense	probably benign	0.04
R8348:Galnt2	UTSW	8	125,061,025 (GRCm39)	nonsense	probably null
R8770:Galnt2	UTSW	8	125,061,025 (GRCm39)	nonsense	probably null
R8826:Galnt2	UTSW	8	125,032,347 (GRCm39)	missense	probably damaging	1.00
R9054:Galnt2	UTSW	8	125,058,837 (GRCm39)	critical splice donor site	probably null
R9269:Galnt2	UTSW	8	125,065,202 (GRCm39)	missense	probably benign	0.02
X0024:Galnt2	UTSW	8	125,070,084 (GRCm39)	missense	probably benign	0.28
Z1177:Galnt2	UTSW	8	125,070,057 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- ACCTAACACTTGCTGCCGTC -3'
(R):5'- AGCTTTCTCTGCTGGCCAAC -3'

Sequencing Primer
(F):5'- TCTCTGGCGACACTCTGG -3'
(R):5'- CCCTGCAGAAGGCCAAGAG -3'

Posted On

2016-04-15