Incidental Mutation 'R3773:Csgalnact2'
ID 273427
Institutional Source Beutler Lab
Gene Symbol Csgalnact2
Ensembl Gene ENSMUSG00000042042
Gene Name chondroitin sulfate N-acetylgalactosaminyltransferase 2
Synonyms 4632415D10Rik, Galnact2
MMRRC Submission 040749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R3773 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 118084413-118116101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118103180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 19 (K19E)
Ref Sequence ENSEMBL: ENSMUSP00000116371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049344] [ENSMUST00000136265]
AlphaFold Q8C1F4
Predicted Effect probably benign
Transcript: ENSMUST00000049344
AA Change: K261E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: K261E

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 probably benign
Transcript: ENSMUST00000136265
AA Change: K19E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042
AA Change: K19E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,532,046 (GRCm39) K899N probably benign Het
Acsbg3 T C 17: 57,183,262 (GRCm39) M1T probably null Het
Adgrv1 G A 13: 81,647,162 (GRCm39) S3126L probably damaging Het
Apba3 C A 10: 81,108,443 (GRCm39) probably null Het
Apobec4 G T 1: 152,632,556 (GRCm39) A195S probably benign Het
Asap3 C T 4: 135,954,886 (GRCm39) T72I probably benign Het
Cand2 T A 6: 115,762,178 (GRCm39) H201Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chd1 A G 17: 17,594,913 (GRCm39) D16G probably damaging Het
Cspg4b A G 13: 113,454,743 (GRCm39) E263G probably benign Het
Cyp17a1 T G 19: 46,658,162 (GRCm39) K250T probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dgcr8 T C 16: 18,074,639 (GRCm39) D712G probably damaging Het
Dsg2 T C 18: 20,724,919 (GRCm39) W442R probably damaging Het
Elavl2 C T 4: 91,152,325 (GRCm39) G131R probably damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
Ercc6l2 A G 13: 63,989,264 (GRCm39) D270G probably damaging Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Fry A T 5: 150,321,663 (GRCm39) R999S probably damaging Het
Gak G A 5: 108,730,538 (GRCm39) T956I probably benign Het
Gps2 T C 11: 69,806,927 (GRCm39) F21L probably damaging Het
Grhl3 C T 4: 135,283,158 (GRCm39) W303* probably null Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Matk T A 10: 81,094,131 (GRCm39) L21Q probably benign Het
Mthfr T C 4: 148,128,907 (GRCm39) V160A probably benign Het
Nhlrc4 T A 17: 26,162,367 (GRCm39) K127* probably null Het
Nsd1 G A 13: 55,394,486 (GRCm39) V696I probably benign Het
Nup210l T G 3: 90,027,201 (GRCm39) Y194* probably null Het
Or1j16 A T 2: 36,530,333 (GRCm39) Y94F probably benign Het
Or2h2 G T 17: 37,396,957 (GRCm39) Y33* probably null Het
Or7a41 G A 10: 78,871,014 (GRCm39) C128Y possibly damaging Het
Or9q2 T A 19: 13,772,568 (GRCm39) M136L probably benign Het
Pcdhb15 T A 18: 37,608,943 (GRCm39) V725D probably benign Het
Pes1 A G 11: 3,925,548 (GRCm39) Y221C probably damaging Het
Prkd3 T C 17: 79,266,535 (GRCm39) I603V possibly damaging Het
Ptpn13 A G 5: 103,624,987 (GRCm39) E97G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rims1 T C 1: 22,492,034 (GRCm39) D842G probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf26rt C T 6: 76,473,942 (GRCm39) V225I probably benign Het
Rngtt T C 4: 33,330,889 (GRCm39) I164T probably damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Slco1a8 T C 6: 141,918,061 (GRCm39) K605R probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
Stxbp5 G A 10: 9,644,671 (GRCm39) T960I probably damaging Het
Suco A T 1: 161,671,565 (GRCm39) probably null Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tmem131l A G 3: 83,805,893 (GRCm39) S1517P probably damaging Het
Trio A G 15: 27,748,177 (GRCm39) S2492P probably damaging Het
Tsg101 T C 7: 46,539,363 (GRCm39) *254W probably null Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ugt2b38 A G 5: 87,571,954 (GRCm39) V26A probably damaging Het
Upb1 T A 10: 75,275,672 (GRCm39) probably null Het
Vmn1r32 T A 6: 66,530,351 (GRCm39) I142F probably benign Het
Vmn1r60 C A 7: 5,547,710 (GRCm39) C130F possibly damaging Het
Vmn2r101 A G 17: 19,809,919 (GRCm39) D235G probably benign Het
Wnk1 C T 6: 119,979,241 (GRCm39) R282Q possibly damaging Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 T C 15: 88,665,050 (GRCm39) S373P probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp423 A T 8: 88,507,140 (GRCm39) L1047Q probably benign Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zfp61 T C 7: 23,995,406 (GRCm39) M1V probably null 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
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
R5744:Csgalnact2 UTSW 6 118,103,197 (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 2015-03-25