Incidental Mutation 'R5744:Csgalnact2'
ID 445712
Institutional Source Beutler Lab
Gene Symbol Csgalnact2
Ensembl Gene ENSMUSG00000042042
Gene Name chondroitin sulfate N-acetylgalactosaminyltransferase 2
Synonyms 4632415D10Rik, Galnact2
MMRRC Submission 043197-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5744 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 118084413-118116101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118103197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 255 (G255E)
Ref Sequence ENSEMBL: ENSMUSP00000039819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049344] [ENSMUST00000136265]
AlphaFold Q8C1F4
Predicted Effect probably damaging
Transcript: ENSMUST00000049344
AA Change: G255E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: G255E

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:CHGN 53 516 3e-83 PFAM
Pfam:Glyco_tranf_2_2 273 477 4.1e-8 PFAM
Pfam:Glyco_transf_7C 413 489 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125531
Predicted Effect possibly damaging
Transcript: ENSMUST00000136265
AA Change: G13E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042
AA Change: G13E

DomainStartEndE-ValueType
Pfam:CHGN 2 223 5.8e-45 PFAM
Pfam:Glyco_tranf_2_2 31 223 6.5e-9 PFAM
Pfam:Glyco_transf_7C 170 223 1.2e-9 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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 chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart2 A G 12: 55,612,131 (GRCm39) I19V possibly damaging Het
Ascc3 T C 10: 50,586,977 (GRCm39) I943T probably benign Het
Btaf1 T C 19: 36,981,890 (GRCm39) V1640A probably benign Het
Cep250 T C 2: 155,823,394 (GRCm39) F1015S possibly damaging Het
Cgnl1 G T 9: 71,537,957 (GRCm39) probably null Het
Ctla2a C T 13: 61,083,767 (GRCm39) probably null Het
Dip2c A T 13: 9,618,441 (GRCm39) I497F probably damaging Het
Eif3f C A 7: 108,537,624 (GRCm39) T179K probably damaging Het
Frem2 A G 3: 53,563,380 (GRCm39) F376L probably damaging Het
Gemin4 A T 11: 76,102,991 (GRCm39) F590Y probably damaging Het
Gemin5 C A 11: 58,046,009 (GRCm39) C433F possibly damaging Het
Gm7694 C T 1: 170,130,075 (GRCm39) probably null Het
Gpr158 G A 2: 21,373,331 (GRCm39) G89R probably damaging Het
Herc1 C T 9: 66,415,475 (GRCm39) P4817S probably damaging Het
Hs6st3 T C 14: 119,375,852 (GRCm39) L9P possibly damaging Het
Igdcc3 TGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGC 9: 65,048,770 (GRCm39) probably benign Het
Il1rap A C 16: 26,498,974 (GRCm39) I158L probably benign Het
Itpr2 A G 6: 146,277,649 (GRCm39) S640P probably damaging Het
Metrn A G 17: 26,014,211 (GRCm39) V205A probably damaging Het
Mfhas1 C A 8: 36,056,636 (GRCm39) D370E probably damaging Het
Mn1 T C 5: 111,568,402 (GRCm39) S791P possibly damaging Het
Mtmr3 A G 11: 4,437,679 (GRCm39) V925A possibly damaging Het
Neil1 T C 9: 57,051,485 (GRCm39) T278A probably damaging Het
Nol8 A G 13: 49,815,802 (GRCm39) N619D possibly damaging Het
Nup214 T C 2: 31,900,308 (GRCm39) L879P probably damaging Het
Or2l5 A G 16: 19,334,086 (GRCm39) I100T probably benign Het
Or7a37 T C 10: 78,806,017 (GRCm39) F178S probably damaging Het
Or9k2 T C 10: 129,998,661 (GRCm39) D178G possibly damaging Het
Plxna1 C T 6: 89,311,664 (GRCm39) R947Q possibly damaging Het
Prdm16 A G 4: 154,613,161 (GRCm39) S89P probably damaging Het
Reln A C 5: 22,311,081 (GRCm39) S277R probably null Het
Sel1l A T 12: 91,776,754 (GRCm39) I746N possibly damaging Het
Slc2a8 C T 2: 32,866,040 (GRCm39) D291N probably benign Het
Slc7a5 T C 8: 122,615,121 (GRCm39) N242S probably benign Het
Smco3 T C 6: 136,808,763 (GRCm39) N37S probably damaging Het
Sult1c2 T A 17: 54,280,990 (GRCm39) K38* probably null Het
Tfap2b T C 1: 19,289,445 (GRCm39) M190T probably benign Het
Tnpo2 T A 8: 85,778,523 (GRCm39) Y623* probably null Het
Tomm70a G T 16: 56,942,202 (GRCm39) probably benign Het
Ttyh2 T C 11: 114,593,136 (GRCm39) probably null Het
Zbtb10 A G 3: 9,329,623 (GRCm39) Y327C probably damaging Het
Other mutations in Csgalnact2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Csgalnact2 APN 6 118,103,233 (GRCm39) start codon destroyed probably null 0.88
IGL00955:Csgalnact2 APN 6 118,106,225 (GRCm39) missense probably damaging 1.00
IGL01396:Csgalnact2 APN 6 118,103,288 (GRCm39) missense probably damaging 1.00
IGL01757:Csgalnact2 APN 6 118,106,307 (GRCm39) missense probably damaging 1.00
IGL02687:Csgalnact2 APN 6 118,101,376 (GRCm39) critical splice acceptor site probably null
IGL02833:Csgalnact2 APN 6 118,106,229 (GRCm39) missense probably damaging 1.00
IGL02837:Csgalnact2 UTSW 6 118,101,364 (GRCm39) missense probably benign 0.10
R0206:Csgalnact2 UTSW 6 118,091,347 (GRCm39) missense probably benign 0.13
R0761:Csgalnact2 UTSW 6 118,103,073 (GRCm39) splice site probably benign
R1201:Csgalnact2 UTSW 6 118,091,393 (GRCm39) missense probably damaging 0.98
R2106:Csgalnact2 UTSW 6 118,086,090 (GRCm39) nonsense probably null
R3773:Csgalnact2 UTSW 6 118,103,180 (GRCm39) missense probably benign 0.17
R3900:Csgalnact2 UTSW 6 118,097,975 (GRCm39) missense probably damaging 1.00
R5618:Csgalnact2 UTSW 6 118,103,277 (GRCm39) missense probably damaging 0.99
R5682:Csgalnact2 UTSW 6 118,097,953 (GRCm39) missense probably damaging 1.00
R5895:Csgalnact2 UTSW 6 118,106,215 (GRCm39) nonsense probably null
R7819:Csgalnact2 UTSW 6 118,098,050 (GRCm39) missense possibly damaging 0.74
R9089:Csgalnact2 UTSW 6 118,097,983 (GRCm39) missense probably damaging 1.00
R9230:Csgalnact2 UTSW 6 118,103,212 (GRCm39) missense probably damaging 1.00
R9380:Csgalnact2 UTSW 6 118,105,840 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGCTGAGTAATTATACTTGGTGAAG -3'
(R):5'- TACTTTGGATCCTTGCCTGAG -3'

Sequencing Primer
(F):5'- GGTGAAGATAAATTAAGTGAGTCTGC -3'
(R):5'- GGATCCTTGCCTGAGTGAAATC -3'
Posted On 2016-11-21