Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Sulf2'

204298

Institutional Source

Beutler Lab

Gene Symbol

Sulf2

Ensembl Gene

ENSMUSG00000006800

Gene Name

sulfatase 2

Synonyms

2010004N24Rik

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166073089-166155663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166079612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 697 (K697R)

Ref Sequence

ENSEMBL: ENSMUSP00000154557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088086] [ENSMUST00000109249] [ENSMUST00000146497]

AlphaFold

Q8CFG0

Predicted Effect

probably benign
Transcript: ENSMUST00000088086
AA Change: K697R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800
AA Change: K697R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Sulfatase	44	375	2.8e-50	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	533	669	5.6e-47	PFAM
low complexity region	702	720	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109249
AA Change: K697R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800
AA Change: K697R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Sulfatase	44	375	2.8e-50	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	532	670	1.3e-46	PFAM
low complexity region	702	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143996

Predicted Effect

probably benign
Transcript: ENSMUST00000146497
AA Change: K697R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous disruption of this gene may lead to a partially penetrant, strain-dependent phenotype of embryonic lethality, reduced postnatal body weight, lung abnormalities, brain malformations, and reduced fertility. Mice homozygous for a hypomorphic gene-trap allele display skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558		probably null	Het
4933427I04Rik	A	G	4: 123,860,493	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743	T771A	probably benign	Het
Atp12a	T	C	14: 56,372,589	V182A	probably benign	Het
Birc6	T	C	17: 74,612,286	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304		probably benign	Het
Cep290	T	A	10: 100,496,810	V257E	probably damaging	Het
Cntrob	T	C	11: 69,320,867	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704		probably null	Het
Evpl	T	C	11: 116,223,660	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191		probably benign	Het
Hgfac	T	C	5: 35,042,850		probably benign	Het
Hspg2	C	T	4: 137,520,156	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355	D78N	possibly damaging	Het
Iqca	C	A	1: 90,081,416	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941	P23L	unknown	Het
Lct	A	G	1: 128,300,301	F1152L	probably damaging	Het
Mxra8	T	C	4: 155,843,074	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962	V187A	probably benign	Het
Net1	A	G	13: 3,887,642	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937	S1063A	probably benign	Het
Olfr1036	G	A	2: 86,074,760	V7I	possibly damaging	Het
Olfr1333	T	A	4: 118,829,868	M191L	probably benign	Het
Olfr1447	C	A	19: 12,901,235	V182F	probably benign	Het
Olfr215	T	C	6: 116,582,964		probably benign	Het
Olfr657	G	A	7: 104,636,159	V162I	probably benign	Het
Olfr747	G	T	14: 50,681,166	P156Q	possibly damaging	Het
Pdzd2	G	A	15: 12,592,460	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348		probably null	Het
Rexo5	T	C	7: 119,845,411	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278	S30P	probably benign	Het
Rrnad1	A	G	3: 87,923,817	S404P	probably damaging	Het
Rxra	C	A	2: 27,756,244	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242		probably null	Het
Sema5b	A	G	16: 35,660,324	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107		probably null	Het
Slc9a8	T	C	2: 167,457,358	S217P	probably benign	Het
Smc6	A	G	12: 11,309,269	N965D	probably benign	Het
Sod2	T	A	17: 13,015,032	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600	I237K	probably damaging	Het
Svs4	A	T	2: 164,277,085	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456		probably benign	Het
Trim15	T	A	17: 36,865,169	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340		probably benign	Het
Xpo1	A	G	11: 23,271,193	N97D	probably benign	Het
Xpo4	A	T	14: 57,603,672	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704	C83F	probably damaging	Het

Other mutations in Sulf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Sulf2	APN	2	166,094,492 (GRCm38)	missense	possibly damaging	0.48
IGL01353:Sulf2	APN	2	166,087,095 (GRCm38)	missense	probably damaging	1.00
IGL02427:Sulf2	APN	2	166,089,298 (GRCm38)	missense	probably damaging	0.99
IGL02602:Sulf2	APN	2	166,081,300 (GRCm38)	missense	probably benign	0.32
IGL02681:Sulf2	APN	2	166,116,985 (GRCm38)	missense	probably benign	0.01
IGL03047:Sulf2	APN	2	166,080,894 (GRCm38)	splice site	probably null
PIT4468001:Sulf2	UTSW	2	166,080,800 (GRCm38)	missense	probably benign
R0029:Sulf2	UTSW	2	166,116,973 (GRCm38)	missense	possibly damaging	0.46
R0029:Sulf2	UTSW	2	166,116,973 (GRCm38)	missense	possibly damaging	0.46
R0233:Sulf2	UTSW	2	166,085,669 (GRCm38)	splice site	probably benign
R0332:Sulf2	UTSW	2	166,089,199 (GRCm38)	missense	probably benign	0.00
R0411:Sulf2	UTSW	2	166,093,516 (GRCm38)	missense	probably damaging	1.00
R0599:Sulf2	UTSW	2	166,083,879 (GRCm38)	missense	possibly damaging	0.53
R0694:Sulf2	UTSW	2	166,085,791 (GRCm38)	missense	probably damaging	1.00
R1594:Sulf2	UTSW	2	166,084,447 (GRCm38)	splice site	probably benign
R1710:Sulf2	UTSW	2	166,079,072 (GRCm38)	missense	probably benign
R1725:Sulf2	UTSW	2	166,081,361 (GRCm38)	missense	probably damaging	0.96
R1737:Sulf2	UTSW	2	166,082,678 (GRCm38)	missense	probably benign	0.01
R2001:Sulf2	UTSW	2	166,080,853 (GRCm38)	missense	probably benign	0.05
R2570:Sulf2	UTSW	2	166,085,801 (GRCm38)	missense	probably benign	0.21
R4052:Sulf2	UTSW	2	166,094,590 (GRCm38)	missense	probably damaging	1.00
R4357:Sulf2	UTSW	2	166,077,577 (GRCm38)	missense	probably benign	0.01
R4613:Sulf2	UTSW	2	166,132,605 (GRCm38)	missense	probably damaging	1.00
R4790:Sulf2	UTSW	2	166,089,295 (GRCm38)	missense	probably damaging	1.00
R4858:Sulf2	UTSW	2	166,081,604 (GRCm38)	missense	probably benign	0.00
R5033:Sulf2	UTSW	2	166,081,622 (GRCm38)	missense	probably benign	0.01
R5692:Sulf2	UTSW	2	166,081,506 (GRCm38)	missense	probably benign	0.03
R5695:Sulf2	UTSW	2	166,132,758 (GRCm38)	missense	probably benign	0.03
R6504:Sulf2	UTSW	2	166,083,921 (GRCm38)	missense	probably benign	0.00
R6816:Sulf2	UTSW	2	166,082,754 (GRCm38)	missense	probably benign
R6859:Sulf2	UTSW	2	166,087,119 (GRCm38)	missense	probably damaging	1.00
R6873:Sulf2	UTSW	2	166,089,275 (GRCm38)	missense	probably damaging	0.97
R7125:Sulf2	UTSW	2	166,075,528 (GRCm38)	nonsense	probably null
R7329:Sulf2	UTSW	2	166,117,088 (GRCm38)	missense	probably damaging	1.00
R7343:Sulf2	UTSW	2	166,077,616 (GRCm38)	missense	possibly damaging	0.69
R7669:Sulf2	UTSW	2	166,093,596 (GRCm38)	missense	possibly damaging	0.67
R7833:Sulf2	UTSW	2	166,079,536 (GRCm38)	missense	possibly damaging	0.92
R8421:Sulf2	UTSW	2	166,117,052 (GRCm38)	missense	probably benign	0.11
R8430:Sulf2	UTSW	2	166,074,816 (GRCm38)	missense	probably benign	0.03
R8861:Sulf2	UTSW	2	166,132,686 (GRCm38)	missense	possibly damaging	0.96
R9285:Sulf2	UTSW	2	166,093,515 (GRCm38)	missense	probably damaging	1.00
R9410:Sulf2	UTSW	2	166,094,524 (GRCm38)	missense
RF016:Sulf2	UTSW	2	166,082,603 (GRCm38)	missense	probably benign	0.01
X0063:Sulf2	UTSW	2	166,079,133 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGGTAGGTGGCCATGCAC -3'
(R):5'- ACTGGACACCCATTTCTGCC -3'

Sequencing Primer
(F):5'- TCTGCTTGCCCACACACAGG -3'
(R):5'- CCATTTCTGCCGCTGGTGG -3'

Posted On

2014-06-23