Incidental Mutation 'R2680:Ndst2'
ID 250956
Institutional Source Beutler Lab
Gene Symbol Ndst2
Ensembl Gene ENSMUSG00000039308
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2
Synonyms [Heparan sulfate]-glucosamine N-sulfotransferase, Mndns, glucosaminyl N-deacetylase/N-sulphotransferase-2
MMRRC Submission 040433-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.464) question?
Stock # R2680 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 20773798-20784630 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20774822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 794 (F794L)
Ref Sequence ENSEMBL: ENSMUSP00000153141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000047490] [ENSMUST00000223679] [ENSMUST00000223840] [ENSMUST00000225000] [ENSMUST00000225419] [ENSMUST00000224751]
AlphaFold P52850
Predicted Effect probably benign
Transcript: ENSMUST00000022358
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819

DomainStartEndE-ValueType
low complexity region 50 66 N/A INTRINSIC
low complexity region 89 102 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
low complexity region 578 612 N/A INTRINSIC
low complexity region 736 751 N/A INTRINSIC
low complexity region 1000 1015 N/A INTRINSIC
low complexity region 1120 1135 N/A INTRINSIC
low complexity region 1176 1211 N/A INTRINSIC
low complexity region 1259 1270 N/A INTRINSIC
low complexity region 1343 1355 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1491 1511 N/A INTRINSIC
low complexity region 1527 1542 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000047490
AA Change: F794L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: F794L

DomainStartEndE-ValueType
Pfam:HSNSD 25 514 9.1e-245 PFAM
Pfam:Sulfotransfer_1 603 866 9.1e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223561
Predicted Effect probably damaging
Transcript: ENSMUST00000223679
AA Change: F794L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223782
Predicted Effect probably benign
Transcript: ENSMUST00000223840
Predicted Effect probably damaging
Transcript: ENSMUST00000225000
AA Change: F794L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000224829
AA Change: F142L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225320
Predicted Effect probably benign
Transcript: ENSMUST00000225419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225010
Predicted Effect probably benign
Transcript: ENSMUST00000224751
Predicted Effect probably benign
Transcript: ENSMUST00000225911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225187
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozugous for a null allele exhibit reduced mast cell numbers, histamine storage, protease storage and degranulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC024139 A G 15: 76,005,939 (GRCm39) W421R probably damaging Het
Car11 T C 7: 45,351,909 (GRCm39) S113P probably benign Het
Ccdc146 C T 5: 21,510,267 (GRCm39) A582T possibly damaging Het
Cct8l1 A G 5: 25,722,133 (GRCm39) T283A probably benign Het
Ckap5 A G 2: 91,419,043 (GRCm39) I1118V probably benign Het
Copa C T 1: 171,948,971 (GRCm39) Q1199* probably null Het
Cpd A T 11: 76,681,825 (GRCm39) N1140K probably benign Het
Cspp1 A G 1: 10,174,530 (GRCm39) D661G probably damaging Het
Dab2 A G 15: 6,466,474 (GRCm39) Q729R possibly damaging Het
Dnah9 T C 11: 65,924,751 (GRCm39) I2168V probably benign Het
Dync1h1 G A 12: 110,609,681 (GRCm39) R2821H probably damaging Het
Ercc5 T C 1: 44,196,133 (GRCm39) V42A probably benign Het
Evc A G 5: 37,467,581 (GRCm39) V566A probably benign Het
Fcrl2 T C 3: 87,164,656 (GRCm39) Y290C probably damaging Het
Frmd4a A G 2: 4,539,364 (GRCm39) R171G probably damaging Het
Galnt17 G A 5: 131,140,661 (GRCm39) P152L probably damaging Het
Gfi1 A G 5: 107,869,297 (GRCm39) L245P probably damaging Het
Heatr4 T C 12: 84,027,237 (GRCm39) K7E possibly damaging Het
Ifit3b A G 19: 34,589,705 (GRCm39) N294D probably benign Het
Ift74 A G 4: 94,541,265 (GRCm39) Y230C probably damaging Het
Igsf10 C T 3: 59,232,875 (GRCm39) V1953I probably benign Het
Ikzf5 T C 7: 130,998,490 (GRCm39) D14G probably damaging Het
Il12rb2 T A 6: 67,331,789 (GRCm39) T259S possibly damaging Het
Itgae T A 11: 73,005,752 (GRCm39) D305E probably damaging Het
Kif23 A C 9: 61,844,758 (GRCm39) D90E probably benign Het
Kprp A G 3: 92,731,770 (GRCm39) F427L unknown Het
Lmnb1 T A 18: 56,864,177 (GRCm39) Y261N probably damaging Het
Megf8 T C 7: 25,016,981 (GRCm39) V17A probably benign Het
Mfap4 T C 11: 61,378,057 (GRCm39) Y190H probably benign Het
Mlh1 T C 9: 111,065,085 (GRCm39) probably null Het
Mocos C A 18: 24,809,686 (GRCm39) Q430K probably damaging Het
Nedd4l A T 18: 65,296,201 (GRCm39) I197F possibly damaging Het
Nefm A G 14: 68,361,235 (GRCm39) L343P probably damaging Het
Nfatc4 A G 14: 56,070,291 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,148,655 (GRCm39) probably null Het
Nlrp4f A T 13: 65,342,157 (GRCm39) L496* probably null Het
Nom1 T C 5: 29,648,415 (GRCm39) F654S probably damaging Het
Or4k2 A T 14: 50,424,304 (GRCm39) Y123* probably null Het
Pcdhac2 A G 18: 37,278,639 (GRCm39) K540E possibly damaging Het
Pde4dip T C 3: 97,608,933 (GRCm39) N1974S possibly damaging Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Pik3ca C T 3: 32,490,697 (GRCm39) R115* probably null Het
Pik3ca T C 3: 32,498,034 (GRCm39) I492T probably benign Het
Ppp1ca G A 19: 4,244,594 (GRCm39) E218K possibly damaging Het
Prex1 G T 2: 166,443,692 (GRCm39) D492E possibly damaging Het
Scaf8 T C 17: 3,247,866 (GRCm39) V1063A possibly damaging Het
Scn3a G T 2: 65,366,880 (GRCm39) N47K probably benign Het
Sec61a2 G T 2: 5,878,556 (GRCm39) N348K probably benign Het
Sh3rf2 A G 18: 42,234,715 (GRCm39) E166G probably damaging Het
Slc19a2 C A 1: 164,076,982 (GRCm39) T54K probably damaging Het
Slc8a3 T A 12: 81,249,113 (GRCm39) I765F probably damaging Het
Snap91 A T 9: 86,761,603 (GRCm39) M1K probably null Het
Spef1l T C 7: 139,558,474 (GRCm39) D41G probably damaging Het
Strc T C 2: 121,195,592 (GRCm39) H1619R probably damaging Het
Tbl1xr1 C T 3: 22,245,615 (GRCm39) T207M possibly damaging Het
Tchp T C 5: 114,847,580 (GRCm39) probably null Het
Tln1 A T 4: 43,539,668 (GRCm39) F1581Y probably damaging Het
Tnxb T C 17: 34,922,594 (GRCm39) V2469A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r225 T A 17: 20,723,055 (GRCm39) F165L probably benign Het
Vmn2r13 T C 5: 109,322,178 (GRCm39) D173G possibly damaging Het
Vmn2r6 A C 3: 64,445,707 (GRCm39) S673A possibly damaging Het
Vta1 G A 10: 14,581,171 (GRCm39) probably benign Het
Wwc1 T C 11: 35,766,756 (GRCm39) T500A probably benign Het
Zfp784 T A 7: 5,039,116 (GRCm39) Q147H possibly damaging Het
Other mutations in Ndst2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ndst2 APN 14 20,774,552 (GRCm39) missense probably benign 0.11
IGL00650:Ndst2 APN 14 20,779,736 (GRCm39) missense possibly damaging 0.77
IGL01565:Ndst2 APN 14 20,778,274 (GRCm39) missense probably damaging 0.98
IGL01746:Ndst2 APN 14 20,779,482 (GRCm39) missense probably benign 0.02
IGL02457:Ndst2 APN 14 20,779,622 (GRCm39) missense possibly damaging 0.95
IGL03193:Ndst2 APN 14 20,779,917 (GRCm39) missense probably damaging 0.97
IGL03238:Ndst2 APN 14 20,778,572 (GRCm39) missense probably damaging 1.00
IGL03277:Ndst2 APN 14 20,780,234 (GRCm39) missense possibly damaging 0.92
R0090:Ndst2 UTSW 14 20,777,335 (GRCm39) missense probably damaging 0.98
R0481:Ndst2 UTSW 14 20,774,536 (GRCm39) missense possibly damaging 0.70
R0677:Ndst2 UTSW 14 20,779,647 (GRCm39) missense probably benign 0.06
R0834:Ndst2 UTSW 14 20,779,761 (GRCm39) missense probably damaging 1.00
R1015:Ndst2 UTSW 14 20,780,132 (GRCm39) missense probably damaging 1.00
R1354:Ndst2 UTSW 14 20,775,043 (GRCm39) missense possibly damaging 0.74
R1678:Ndst2 UTSW 14 20,774,582 (GRCm39) missense probably benign 0.00
R2853:Ndst2 UTSW 14 20,779,964 (GRCm39) missense probably damaging 1.00
R5000:Ndst2 UTSW 14 20,774,975 (GRCm39) critical splice donor site probably null
R5266:Ndst2 UTSW 14 20,774,555 (GRCm39) missense probably damaging 1.00
R6737:Ndst2 UTSW 14 20,777,562 (GRCm39) missense probably damaging 1.00
R7109:Ndst2 UTSW 14 20,779,911 (GRCm39) missense probably damaging 1.00
R7506:Ndst2 UTSW 14 20,780,153 (GRCm39) missense probably benign
R7646:Ndst2 UTSW 14 20,774,527 (GRCm39) critical splice donor site probably null
R7985:Ndst2 UTSW 14 20,778,478 (GRCm39) splice site probably null
R8094:Ndst2 UTSW 14 20,778,232 (GRCm39) missense probably damaging 0.99
R8893:Ndst2 UTSW 14 20,774,830 (GRCm39) missense probably benign 0.05
R9105:Ndst2 UTSW 14 20,780,070 (GRCm39) missense probably benign
R9209:Ndst2 UTSW 14 20,779,240 (GRCm39) missense possibly damaging 0.89
R9428:Ndst2 UTSW 14 20,775,470 (GRCm39) missense possibly damaging 0.87
R9723:Ndst2 UTSW 14 20,775,512 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTCAGGTGTCAGCAAGAAG -3'
(R):5'- CTTGCAGAACCGTTGTCTTG -3'

Sequencing Primer
(F):5'- AGGGTACTCAAGGCACCGAC -3'
(R):5'- AACGCTGGCTGACTTACTATC -3'
Posted On 2014-12-04