Incidental Mutation 'R6732:Galnt2'
| ID |
530114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galnt2
|
| Ensembl Gene |
ENSMUSG00000089704 |
| Gene Name |
polypeptide N-acetylgalactosaminyltransferase 2 |
| Synonyms |
ppGaNTase-T2 |
| MMRRC Submission |
044850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6732 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124958133-125072461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125067561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 447
(W447R)
|
| 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: W481R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034458
Gene: ENSMUSG00000089704
AA Change: W481R
| 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: W447R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
AA Change: W447R
| 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 |
0.9547 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,117,190 (GRCm39) |
I486T |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,223,434 (GRCm39) |
N158S |
probably benign |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
G |
A |
3: 127,609,334 (GRCm39) |
Q96* |
probably null |
Het |
| Cd101 |
C |
T |
3: 100,915,515 (GRCm39) |
S684N |
probably benign |
Het |
| Cdh16 |
T |
G |
8: 105,345,165 (GRCm39) |
I375L |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,551,436 (GRCm39) |
V75A |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,551,374 (GRCm39) |
N110K |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,943 (GRCm39) |
V93A |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,652,740 (GRCm39) |
|
probably null |
Het |
| Egln3 |
C |
T |
12: 54,227,427 (GRCm39) |
A235T |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,212,124 (GRCm39) |
T2335A |
probably damaging |
Het |
| Fzd3 |
T |
C |
14: 65,473,252 (GRCm39) |
D172G |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,660,990 (GRCm39) |
L450P |
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,421,653 (GRCm39) |
T533A |
possibly damaging |
Het |
| Map3k19 |
A |
C |
1: 127,751,969 (GRCm39) |
F257V |
probably benign |
Het |
| Mroh7 |
GTT |
GTTT |
4: 106,537,910 (GRCm39) |
|
probably null |
Het |
| Or5ac20 |
A |
T |
16: 59,104,314 (GRCm39) |
V182E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,197 (GRCm39) |
I176F |
probably benign |
Het |
| Pigp |
A |
C |
16: 94,166,300 (GRCm39) |
L96R |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,788,387 (GRCm39) |
D715G |
probably damaging |
Het |
| Plxnd1 |
A |
C |
6: 115,946,890 (GRCm39) |
L828R |
possibly damaging |
Het |
| Pramel15 |
C |
T |
4: 144,099,743 (GRCm39) |
V341I |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,481,386 (GRCm39) |
S814T |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,573 (GRCm39) |
S87P |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,521,180 (GRCm39) |
D34E |
probably benign |
Het |
| Rhof |
A |
G |
5: 123,269,999 (GRCm39) |
F53L |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,123,851 (GRCm39) |
P1217T |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,235,389 (GRCm39) |
Y263H |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,576,599 (GRCm39) |
|
probably null |
Het |
| Smyd3 |
T |
G |
1: 179,223,395 (GRCm39) |
H178P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,761,842 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,541,337 (GRCm39) |
|
probably null |
Het |
| Trim17 |
A |
T |
11: 58,861,851 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,770,395 (GRCm39) |
F2599I |
possibly damaging |
Het |
| Tuba3a |
A |
T |
6: 125,258,608 (GRCm39) |
D127E |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,106 (GRCm39) |
T68A |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,351 (GRCm39) |
V411A |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,758 (GRCm39) |
V196E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,227,684 (GRCm39) |
Y131C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,282 (GRCm39) |
S667Y |
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 |
|
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'- AGAACAGACCTACCAGCTGG -3'
(R):5'- GATGAACTGGACCATGGGTGTG -3'
Sequencing Primer
(F):5'- TACCAGCTGGGGCCCAC -3'
(R):5'- TGTGAGGTGGCTAAGCACG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation