Incidental Mutation 'R5000:Ndst2'
ID 444534
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 042594-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.464) question?
Stock # R5000 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20773798-20784630 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 20774975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000047490] [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 null
Transcript: ENSMUST00000047490
SMART Domains Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308

DomainStartEndE-ValueType
Pfam:HSNSD 25 514 9.1e-245 PFAM
Pfam:Sulfotransfer_1 603 866 9.1e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000047490
SMART Domains Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308

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 null
Transcript: ENSMUST00000223679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223782
Predicted Effect probably benign
Transcript: ENSMUST00000223840
Predicted Effect probably null
Transcript: ENSMUST00000225000
Predicted Effect probably null
Transcript: ENSMUST00000224829
Predicted Effect probably benign
Transcript: ENSMUST00000225419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225320
Predicted Effect probably benign
Transcript: ENSMUST00000225911
Predicted Effect probably benign
Transcript: ENSMUST00000224751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225010
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (97/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,255,946 (GRCm39) F11Y probably benign Het
Abca5 A G 11: 110,201,050 (GRCm39) L450P probably damaging Het
Abi1 T A 2: 22,840,211 (GRCm39) R357W probably damaging Het
Acot7 G A 4: 152,270,820 (GRCm39) G55R probably benign Het
Aicda G A 6: 122,538,826 (GRCm39) V14I probably damaging Het
Anxa4 G T 6: 86,742,766 (GRCm39) probably benign Het
Apobr T A 7: 126,185,729 (GRCm39) D413E possibly damaging Het
Ash1l T C 3: 88,965,941 (GRCm39) Y2448H probably damaging Het
Atf7ip A G 6: 136,559,426 (GRCm39) E749G probably damaging Het
Atp8b3 A T 10: 80,357,676 (GRCm39) N1114K possibly damaging Het
Bdnf C A 2: 109,553,993 (GRCm39) N122K probably benign Het
Boc A T 16: 44,310,517 (GRCm39) I801N probably damaging Het
Brap A T 5: 121,800,089 (GRCm39) K37* probably null Het
Ccar1 C T 10: 62,586,784 (GRCm39) E885K unknown Het
Ccdc103 A G 11: 102,774,932 (GRCm39) N177S probably benign Het
Ccdc116 G A 16: 16,959,657 (GRCm39) P344L possibly damaging Het
Cdca5 T C 19: 6,135,463 (GRCm39) S28P possibly damaging Het
Ceacam20 T C 7: 19,699,453 (GRCm39) I14T probably damaging Het
Chrnb1 A T 11: 69,677,858 (GRCm39) V298E probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Csnk1a1 T C 18: 61,711,840 (GRCm39) F97L probably damaging Het
Dag1 A T 9: 108,085,216 (GRCm39) S642T probably benign Het
Dedd2 A G 7: 24,903,068 (GRCm39) V297A possibly damaging Het
Dhcr7 C T 7: 143,395,060 (GRCm39) T189M possibly damaging Het
Dlgap1 T C 17: 71,073,053 (GRCm39) S691P probably damaging Het
Dmgdh A C 13: 93,825,046 (GRCm39) H123P probably damaging Het
Dnah6 C T 6: 73,121,798 (GRCm39) V1395I probably benign Het
Dnah7a T C 1: 53,606,201 (GRCm39) Y1273C probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Elac2 T C 11: 64,876,379 (GRCm39) F3L probably benign Het
Elovl7 A T 13: 108,410,915 (GRCm39) K163N probably benign Het
Epg5 T C 18: 77,997,376 (GRCm39) V413A probably benign Het
Espl1 T A 15: 102,206,986 (GRCm39) L150Q probably damaging Het
F2rl3 T A 8: 73,489,307 (GRCm39) L178Q probably damaging Het
Fam120a T C 13: 49,051,143 (GRCm39) E754G probably damaging Het
Fam53b T C 7: 132,317,730 (GRCm39) N304S probably benign Het
Fbxo41 T C 6: 85,460,901 (GRCm39) E269G probably damaging Het
Fcrla T C 1: 170,749,959 (GRCm39) T4A probably benign Het
Frmpd1 A T 4: 45,261,931 (GRCm39) probably null Het
Gm9376 A G 14: 118,504,702 (GRCm39) M45V probably benign Het
Gpr68 G A 12: 100,844,596 (GRCm39) A316V probably benign Het
Hmgcl G A 4: 135,689,511 (GRCm39) C323Y probably benign Het
Hnrnpu T C 1: 178,156,941 (GRCm39) probably benign Het
Ier2 T A 8: 85,389,353 (GRCm39) I10F probably damaging Het
Ip6k1 C T 9: 107,922,798 (GRCm39) Q234* probably null Het
Llgl2 T C 11: 115,735,728 (GRCm39) V108A probably benign Het
Lrfn3 T C 7: 30,059,805 (GRCm39) N140S possibly damaging Het
Lrig1 T A 6: 94,588,430 (GRCm39) H573L probably damaging Het
Lrrk2 T A 15: 91,634,081 (GRCm39) W1393R probably damaging Het
Mrc1 T A 2: 14,249,000 (GRCm39) Y179N probably damaging Het
Mtfr1 C T 3: 19,265,743 (GRCm39) L93F probably damaging Het
Muc19 T C 15: 91,757,429 (GRCm39) noncoding transcript Het
Nmd3 A T 3: 69,624,735 (GRCm39) probably benign Het
Nsd3 A G 8: 26,172,593 (GRCm39) Y784C probably damaging Het
Or4a27 A T 2: 88,559,910 (GRCm39) I11N probably damaging Het
Or7a36 G A 10: 78,820,514 (GRCm39) V297I probably benign Het
Papln A G 12: 83,821,663 (GRCm39) Y297C probably damaging Het
Pdhx T C 2: 102,871,385 (GRCm39) probably null Het
Pdpk1 T C 17: 24,330,019 (GRCm39) T6A possibly damaging Het
Prcp T C 7: 92,568,368 (GRCm39) W267R probably damaging Het
Prg2 T C 2: 84,812,367 (GRCm39) S26P probably benign Het
Psg26 A T 7: 18,214,057 (GRCm39) Y202N possibly damaging Het
Psrc1 T C 3: 108,287,839 (GRCm39) probably benign Het
Rap1gds1 A T 3: 138,662,011 (GRCm39) M366K probably damaging Het
Robo4 G T 9: 37,319,664 (GRCm39) R527L probably benign Het
Sel1l3 G A 5: 53,357,776 (GRCm39) T72M probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d A G 5: 12,498,005 (GRCm39) T4A probably benign Het
Shroom1 A T 11: 53,357,944 (GRCm39) probably benign Het
Slc25a19 T C 11: 115,507,497 (GRCm39) probably null Het
Snx29 A C 16: 11,221,371 (GRCm39) I266L probably damaging Het
Spo11 T C 2: 172,831,193 (GRCm39) S255P probably damaging Het
Spock3 T C 8: 63,698,158 (GRCm39) V167A possibly damaging Het
Tmc7 A G 7: 118,158,077 (GRCm39) probably null Het
Tmtc4 A G 14: 123,170,743 (GRCm39) V509A possibly damaging Het
Trim24 A G 6: 37,935,547 (GRCm39) D880G probably benign Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr4 T A 4: 139,163,480 (GRCm39) C2627S probably damaging Het
Unc5d A T 8: 29,205,775 (GRCm39) M512K possibly damaging Het
Usp18 A G 6: 121,229,479 (GRCm39) R33G possibly damaging Het
Utp23 T A 15: 51,745,569 (GRCm39) V23D probably damaging Het
Wdr17 T A 8: 55,118,161 (GRCm39) M512L possibly damaging Het
Wdr64 T A 1: 175,553,941 (GRCm39) probably null Het
Zbtb6 T C 2: 37,319,251 (GRCm39) T226A probably benign Het
Zc3hc1 T A 6: 30,375,987 (GRCm39) H191L possibly damaging Het
Zdhhc4 C A 5: 143,310,688 (GRCm39) C48F probably damaging Het
Zfp335 T A 2: 164,736,588 (GRCm39) T1016S probably benign Het
Zfp583 A G 7: 6,328,473 (GRCm39) Y39H probably 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
R2680:Ndst2 UTSW 14 20,774,822 (GRCm39) missense probably damaging 0.99
R2853:Ndst2 UTSW 14 20,779,964 (GRCm39) missense probably damaging 1.00
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'- CCTCGTGTAGTTCAGAAAGGG -3'
(R):5'- GCCATTGTCAAATGAGCACC -3'

Sequencing Primer
(F):5'- TGTAGTTCAGAAAGGGGGTGATACC -3'
(R):5'- GCCATTGTCAAATGAGCACCTTATC -3'
Posted On 2016-11-11