Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Chst2'

456390

Institutional Source

Beutler Lab

Gene Symbol

Chst2

Ensembl Gene

ENSMUSG00000033350

Gene Name

carbohydrate sulfotransferase 2

Synonyms

C130041E03Rik, N-acetylglucosamine-6-O-sulfotransferase, Gn6st, GST-2

MMRRC Submission

044100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5902 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

95282979-95289323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95287662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 228 (L228P)

Ref Sequence

ENSEMBL: ENSMUSP00000040775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036267]

AlphaFold

Q80WV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036267
AA Change: L228P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040775
Gene: ENSMUSG00000033350
AA Change: L228P

Domain	Start	End	E-Value	Type
low complexity region	6	45	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
low complexity region	88	114	N/A	INTRINSIC
low complexity region	129	149	N/A	INTRINSIC
Pfam:Sulfotransfer_1	164	507	7e-27	PFAM
Pfam:Sulfotransfer_3	165	446	6.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192612

Meta Mutation Damage Score

0.9628

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display decreased lymphocyte binding to peripheral lymph node high endothelial venules, and significantly reduced lymphocyte homing to Peyer's patches, peripheral and mesenteric lymph nodes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Acin1	T	A	14: 54,901,130 (GRCm39)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Aoc2	A	G	11: 101,220,072 (GRCm39)	E659G	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Hus1	T	C	11: 8,960,669 (GRCm39)		probably benign	Het
Ifi47	C	A	11: 48,986,213 (GRCm39)		probably null	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,337,826 (GRCm39)	H400L	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Or4k44	C	T	2: 111,367,739 (GRCm39)	M298I	probably benign	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	probably benign	Het

Other mutations in Chst2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02403:Chst2	APN	9	95,287,285 (GRCm39)	nonsense	probably null
R1240:Chst2	UTSW	9	95,287,536 (GRCm39)	missense	possibly damaging	0.68
R1537:Chst2	UTSW	9	95,288,194 (GRCm39)	missense	probably benign	0.04
R1884:Chst2	UTSW	9	95,287,611 (GRCm39)	missense	probably damaging	1.00
R2355:Chst2	UTSW	9	95,288,148 (GRCm39)	missense	probably damaging	0.99
R4576:Chst2	UTSW	9	95,287,224 (GRCm39)	missense	probably damaging	0.99
R4818:Chst2	UTSW	9	95,287,417 (GRCm39)	missense	probably damaging	1.00
R4928:Chst2	UTSW	9	95,288,059 (GRCm39)	missense	probably benign	0.10
R5366:Chst2	UTSW	9	95,287,518 (GRCm39)	missense	probably damaging	1.00
R5703:Chst2	UTSW	9	95,286,985 (GRCm39)	missense	probably damaging	0.99
R6339:Chst2	UTSW	9	95,287,803 (GRCm39)	missense	probably damaging	1.00
R6752:Chst2	UTSW	9	95,286,802 (GRCm39)	nonsense	probably null
R7063:Chst2	UTSW	9	95,287,621 (GRCm39)	missense	probably benign	0.28
R8061:Chst2	UTSW	9	95,287,224 (GRCm39)	missense	probably damaging	0.99
R9008:Chst2	UTSW	9	95,288,347 (GRCm39)	start gained	probably benign
R9204:Chst2	UTSW	9	95,287,155 (GRCm39)	missense	probably damaging	0.99
R9400:Chst2	UTSW	9	95,287,642 (GRCm39)	missense	probably benign	0.14
R9732:Chst2	UTSW	9	95,287,951 (GRCm39)	missense	probably benign	0.02
Z1177:Chst2	UTSW	9	95,286,894 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAACCAGCGTGCGGTACTTG -3'
(R):5'- CAAGCGGCAGTTGGTGTATG -3'

Sequencing Primer
(F):5'- TGCGGTACTTGCGACACTC -3'
(R):5'- GTGTTCACCACGTGGCG -3'

Posted On

2017-02-15