Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Galnt2'

216227

Institutional Source

Beutler Lab

Gene Symbol

Galnt2

Ensembl Gene

ENSMUSG00000089704

Gene Name

polypeptide N-acetylgalactosaminyltransferase 2

Synonyms

ppGaNTase-T2

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

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

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124958133-125072461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125070085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 534 (G534D)

Ref Sequence

ENSEMBL: ENSMUSP00000034458 (fasta)

Gene Model

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

AlphaFold

Q6PB93

Predicted Effect

probably benign
Transcript: ENSMUST00000034458
AA Change: G534D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: G534D

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 benign
Transcript: ENSMUST00000127664
AA Change: G500D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: G500D

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: ENSMUST00000147911

Meta Mutation Damage Score

0.1011

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	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
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
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'- AAACAGCAGGGTCAGAGTGCTTC -3'
(R):5'- ATCAACAAACTGGGCCGGTGTG -3'

Sequencing Primer
(F):5'- TGTGCTCCAAGAGTGACAC -3'
(R):5'- TGTGCGGGTGGACGTTG -3'

Posted On

2014-07-31