Mutagenetix > Incidental Mutation

Incidental Mutation 'R9428:Ndst2'

712759

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R9428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20773798-20784630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20775470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 673 (F673L)

Ref Sequence

ENSEMBL: ENSMUSP00000040227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000047490] [ENSMUST00000223679] [ENSMUST00000223840] [ENSMUST00000224751] [ENSMUST00000225000] [ENSMUST00000225419]

AlphaFold

P52850

Predicted Effect

probably benign
Transcript: ENSMUST00000022358

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000047490
AA Change: F673L

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: F673L

Domain	Start	End	E-Value	Type
Pfam:HSNSD	25	514	9.1e-245	PFAM
Pfam:Sulfotransfer_1	603	866	9.1e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223679
AA Change: F673L

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000223840

Predicted Effect

probably benign
Transcript: ENSMUST00000224751

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224829
AA Change: F21L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225000
AA Change: F673L

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000225419

Predicted Effect

probably benign
Transcript: ENSMUST00000225911

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Agmo	A	G	12: 37,455,330 (GRCm39)	I281M	probably benign	Het
Ahdc1	C	T	4: 132,791,773 (GRCm39)	P1005S	possibly damaging	Het
Akap12	T	A	10: 4,303,409 (GRCm39)	V178D	probably damaging	Het
Arc	A	G	15: 74,543,063 (GRCm39)	S387P	probably benign	Het
Arhgap11a	C	T	2: 113,667,279 (GRCm39)	V423I	probably benign	Het
Arhgap44	A	G	11: 64,899,168 (GRCm39)	S670P	probably damaging	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
C4bp	A	T	1: 130,581,094 (GRCm39)	F138L	probably benign	Het
Carmil1	A	T	13: 24,295,834 (GRCm39)	C393*	probably null	Het
Cblif	A	G	19: 11,735,102 (GRCm39)	T241A	probably benign	Het
Celsr1	A	T	15: 85,815,549 (GRCm39)	V1822E	possibly damaging	Het
Chgb	C	G	2: 132,635,154 (GRCm39)	S365R	probably damaging	Het
Cnih3	T	C	1: 181,180,857 (GRCm39)		probably benign	Het
Dcaf1	T	A	9: 106,735,528 (GRCm39)	D825E	possibly damaging	Het
Dlx3	T	C	11: 95,011,430 (GRCm39)	Y95H	probably benign	Het
Dmbt1	A	T	7: 130,668,208 (GRCm39)	E488V	unknown	Het
Espnl	A	G	1: 91,273,595 (GRCm39)	Y985C	probably damaging	Het
Frmpd2	T	C	14: 33,272,010 (GRCm39)	V1048A	probably damaging	Het
Fxn	A	T	19: 24,249,787 (GRCm39)	L100Q	probably damaging	Het
Gapvd1	T	A	2: 34,607,318 (GRCm39)	D560V	probably damaging	Het
Gm4924	T	A	10: 82,213,490 (GRCm39)	H429Q	unknown	Het
Gpr158	T	C	2: 21,787,972 (GRCm39)	F538L	probably benign	Het
Itpr1	T	A	6: 108,378,308 (GRCm39)	M1278K	possibly damaging	Het
Ivd	T	A	2: 118,708,369 (GRCm39)	V361E	probably damaging	Het
Kcnh6	T	C	11: 105,899,821 (GRCm39)	L30P	probably damaging	Het
Lipo4	C	T	19: 33,495,074 (GRCm39)	V35I	probably benign	Het
Lmo7	A	G	14: 102,155,076 (GRCm39)	D1200G	probably damaging	Het
Med1	T	A	11: 98,080,049 (GRCm39)	R31*	probably null	Het
Mill2	A	T	7: 18,573,950 (GRCm39)	R12*	probably null	Het
Mphosph8	A	G	14: 56,934,114 (GRCm39)		probably null	Het
Mtfr2	T	A	10: 20,233,039 (GRCm39)	S203T	possibly damaging	Het
Muc5ac	A	C	7: 141,362,559 (GRCm39)	T1957P	unknown	Het
Mxi1	C	A	19: 53,299,213 (GRCm39)	P28Q	probably benign	Het
Mycbpap	T	C	11: 94,393,995 (GRCm39)	D367G	probably damaging	Het
Nav3	T	C	10: 109,605,176 (GRCm39)	T966A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Ndst3	T	A	3: 123,340,518 (GRCm39)	I767F	probably benign	Het
Nell1	A	T	7: 50,503,683 (GRCm39)	D696V	probably damaging	Het
Nol9	A	T	4: 152,124,109 (GRCm39)	T100S	probably benign	Het
Nr4a1	T	C	15: 101,168,245 (GRCm39)	S94P	probably damaging	Het
Nrdc	T	C	4: 108,858,121 (GRCm39)	I31T	probably damaging	Het
Oas2	T	A	5: 120,887,576 (GRCm39)	D88V	probably damaging	Het
Or8w1	T	C	2: 87,465,774 (GRCm39)	I106V	probably benign	Het
Pex6	A	G	17: 47,022,991 (GRCm39)	H189R	probably benign	Het
Pgap1	A	G	1: 54,575,206 (GRCm39)	S239P	probably damaging	Het
Pheta1	C	T	5: 121,991,147 (GRCm39)	P170S	possibly damaging	Het
Plec	A	G	15: 76,067,721 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,192,780 (GRCm39)	V582A	probably benign	Het
Plekhh2	G	T	17: 84,873,841 (GRCm39)	E375D	probably benign	Het
Pramel55	G	T	5: 95,949,545 (GRCm39)	R97S	probably damaging	Het
Prp2rt	A	G	13: 97,235,724 (GRCm39)	S8P	probably benign	Het
Psmd4	G	A	3: 94,940,767 (GRCm39)	T332I	probably benign	Het
Ptprc	T	A	1: 138,041,485 (GRCm39)	T76S	probably benign	Het
Rab44	A	T	17: 29,358,315 (GRCm39)	I168L		Het
Ros1	T	C	10: 51,958,061 (GRCm39)	T1872A	probably benign	Het
Scgb1b24	A	T	7: 33,443,493 (GRCm39)	K51*	probably null	Het
Scube2	A	T	7: 109,428,345 (GRCm39)	D509E	probably benign	Het
Sgo2b	A	T	8: 64,393,067 (GRCm39)	S123R	probably damaging	Het
Smc3	G	C	19: 53,617,150 (GRCm39)	R521P	possibly damaging	Het
Socs4	G	A	14: 47,528,034 (GRCm39)	R323H	probably damaging	Het
Socs5	T	A	17: 87,441,067 (GRCm39)	D2E	probably benign	Het
Sra1	A	G	18: 36,810,299 (GRCm39)	V121A	probably damaging	Het
Stimate	T	C	14: 30,594,645 (GRCm39)	S253P	probably benign	Het
Tanc1	T	C	2: 59,601,548 (GRCm39)	L143P	probably damaging	Het
Tcerg1l	A	T	7: 137,811,490 (GRCm39)	F568Y	probably damaging	Het
Trpm7	T	C	2: 126,671,140 (GRCm39)	E614G	probably damaging	Het
Tuba4a	G	T	1: 75,192,686 (GRCm39)	H337Q		Het
Tubgcp6	G	A	15: 88,985,100 (GRCm39)	H1663Y	probably damaging	Het
Ush2a	A	G	1: 188,175,316 (GRCm39)	Y1138C	probably damaging	Het
Vmn1r18	A	T	6: 57,367,535 (GRCm39)	N6K	possibly damaging	Het
Vmn1r213	G	A	13: 23,195,944 (GRCm39)	A176T		Het
Vmn1r215	A	T	13: 23,260,749 (GRCm39)	H263L	probably benign	Het
Vmn2r51	CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC	CGGC	7: 9,833,712 (GRCm39)		probably benign	Het
Wdhd1	A	C	14: 47,489,427 (GRCm39)	L702*	probably null	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	probably benign	Het

Other mutations in Ndst2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9723:Ndst2	UTSW	14	20,775,512 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGGCTAGTTTAGTTTCCCG -3'
(R):5'- TACCACAAGGGGATCGACTG -3'

Sequencing Primer
(F):5'- GTGTCTCTAGCAGGAACTACC -3'
(R):5'- ATCGACTGGTGAGCCTGG -3'

Posted On

2022-05-16