Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Galnt2'

664351

Institutional Source

Beutler Lab

Gene Symbol

Galnt2

Ensembl Gene

ENSMUSG00000089704

Gene Name

polypeptide N-acetylgalactosaminyltransferase 2

Synonyms

ppGaNTase-T2

MMRRC Submission

068625-MU

Accession Numbers

Essential gene?

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

Stock #

R8770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124958133-125072461 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 125061025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 306 (R306*)

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

AlphaFold

Q6PB93

Predicted Effect

probably null
Transcript: ENSMUST00000034458
AA Change: R340*

SMART Domains

Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: R340*

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 null
Transcript: ENSMUST00000127664
AA Change: R306*

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: R306*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,104,199 (GRCm39)		probably null	Het
Aox1	A	T	1: 58,378,763 (GRCm39)	K1004M	probably benign	Het
Atn1	C	T	6: 124,722,601 (GRCm39)		probably null	Het
Atp8b4	T	C	2: 126,184,915 (GRCm39)	Y916C	probably damaging	Het
Bicd1	T	C	6: 149,420,448 (GRCm39)	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,884,684 (GRCm39)	D223E	probably benign	Het
Bpifc	T	G	10: 85,801,129 (GRCm39)	R406S	probably damaging	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,006,926 (GRCm39)	I607N	possibly damaging	Het
Cdyl2	T	C	8: 117,321,822 (GRCm39)	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,363,117 (GRCm39)	Q163R	probably benign	Het
Cntn3	T	A	6: 102,254,277 (GRCm39)	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,952,208 (GRCm39)	V358A	probably damaging	Het
Dchs1	G	A	7: 105,420,945 (GRCm39)	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,311,298 (GRCm39)	T1808A	probably benign	Het
Dnah10	A	G	5: 124,852,410 (GRCm39)	I1880V	possibly damaging	Het
Dnai3	T	C	3: 145,752,298 (GRCm39)	T793A	probably benign	Het
Dscam	T	C	16: 96,456,106 (GRCm39)	E1274G	possibly damaging	Het
Dtwd1	A	G	2: 125,996,727 (GRCm39)	T71A	probably damaging	Het
Dusp4	T	A	8: 35,274,938 (GRCm39)	M19K	probably benign	Het
Fbxo39	T	C	11: 72,209,285 (GRCm39)	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,046,596 (GRCm39)	C455S	probably benign	Het
Fcmr	T	A	1: 130,803,799 (GRCm39)	V201E	probably benign	Het
Gpr156	A	G	16: 37,824,974 (GRCm39)	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,443,951 (GRCm39)	V73D	probably damaging	Het
Hrob	A	G	11: 102,145,976 (GRCm39)	N84S	probably benign	Het
Laptm4b	T	C	15: 34,258,843 (GRCm39)	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Myo6	A	G	9: 80,171,481 (GRCm39)	E494G	unknown	Het
Myo7b	C	T	18: 32,114,124 (GRCm39)	D1076N	probably benign	Het
Neurl1b	A	G	17: 26,650,887 (GRCm39)	D53G	probably damaging	Het
Noc4l	A	G	5: 110,796,758 (GRCm39)	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,025,850 (GRCm39)	F157L	probably damaging	Het
Ogdh	T	C	11: 6,305,336 (GRCm39)	Y959H	probably damaging	Het
Or13c7d	T	G	4: 43,770,813 (GRCm39)	N66T	probably damaging	Het
Or4a73	A	G	2: 89,421,171 (GRCm39)	M96T	probably benign	Het
Pik3ap1	A	G	19: 41,316,599 (GRCm39)	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,404,853 (GRCm39)	Y4H	unknown	Het
Rad21	A	G	15: 51,831,749 (GRCm39)	I444T	probably benign	Het
Recql5	T	C	11: 115,787,943 (GRCm39)	I459V	probably benign	Het
Scaf1	T	C	7: 44,656,129 (GRCm39)	T917A	unknown	Het
Sdc4	C	T	2: 164,270,822 (GRCm39)	V146I	probably damaging	Het
Serpina6	T	C	12: 103,620,198 (GRCm39)	S184G	probably benign	Het
Shkbp1	C	A	7: 27,051,311 (GRCm39)	R218S	possibly damaging	Het
Slc17a3	A	G	13: 24,039,607 (GRCm39)	D255G		Het
Slc7a2	T	G	8: 41,352,267 (GRCm39)	V110G	probably damaging	Het
Slf1	A	C	13: 77,194,766 (GRCm39)	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,029,718 (GRCm39)	V102A	probably benign	Het
Sobp	T	C	10: 43,036,788 (GRCm39)	K50R	probably damaging	Het
Spink10	A	T	18: 62,786,532 (GRCm39)	R47S	probably benign	Het
Sspo	T	A	6: 48,451,206 (GRCm39)	F2720Y	probably null	Het
Tdrkh	T	A	3: 94,336,440 (GRCm39)	V459D	probably damaging	Het
Tent5a	A	G	9: 85,208,803 (GRCm39)	Y7H	probably benign	Het
Tlcd2	T	A	11: 75,360,630 (GRCm39)	D224E	probably damaging	Het
Tln2	T	A	9: 67,230,304 (GRCm39)	Q87L	probably benign	Het
Tmem131	A	T	1: 36,838,186 (GRCm39)		probably benign	Het
Tmem63a	G	A	1: 180,789,961 (GRCm39)	G378R	probably benign	Het
Trank1	C	A	9: 111,219,892 (GRCm39)	Q2210K	probably benign	Het
Trim24	T	A	6: 37,934,435 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,050,675 (GRCm39)	I238N	probably damaging	Het
Vps39	A	T	2: 120,153,548 (GRCm39)	D675E	probably benign	Het
Zfp229	T	A	17: 21,964,795 (GRCm39)	C342S	probably damaging	Het
Zfp759	A	G	13: 67,288,417 (GRCm39)	H656R	probably damaging	Het
Zfp994	T	C	17: 22,419,980 (GRCm39)	Y323C	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
R4927:Galnt2	UTSW	8	125,032,362 (GRCm39)	missense	probably damaging	1.00
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
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'- GAGCTTTCCATGCGTGTTCC -3'
(R):5'- AGGGTCTTCTGAGCAGACAG -3'

Sequencing Primer
(F):5'- TGTCCATGATGCCCCAGTG -3'
(R):5'- ACAGCAGACATCTGGGCTG -3'

Posted On

2021-03-08