Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Sulf2'

569989

Institutional Source

Beutler Lab

Gene Symbol

Sulf2

Ensembl Gene

ENSMUSG00000006800

Gene Name

sulfatase 2

Synonyms

2010004N24Rik

MMRRC Submission

045433-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165915819-165997603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 165919536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 804 (D804A)

Ref Sequence

ENSEMBL: ENSMUSP00000085405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088086] [ENSMUST00000088095] [ENSMUST00000109249] [ENSMUST00000146497]

AlphaFold

Q8CFG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088086
AA Change: D804A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800
AA Change: D804A

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: ENSMUST00000088095

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678

Domain	Start	End	E-Value	Type
HLH	32	89	5.63e-9	SMART
PAS	113	179	1.16e-11	SMART
Pfam:PAS_11	261	372	1.6e-34	PFAM
Pfam:NCOA_u2	451	564	7.1e-46	PFAM
low complexity region	586	599	N/A	INTRINSIC
Pfam:SRC-1	608	696	1.6e-32	PFAM
Pfam:DUF4927	714	801	2e-32	PFAM
coiled coil region	960	997	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1056	1104	2.1e-27	PFAM
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1221	1233	N/A	INTRINSIC
low complexity region	1243	1263	N/A	INTRINSIC
DUF1518	1270	1327	1.08e-21	SMART
low complexity region	1384	1398	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109249
AA Change: D804A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800
AA Change: D804A

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

possibly damaging
Transcript: ENSMUST00000146497
AA Change: D804A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Deaf1	A	T	7: 140,902,871 (GRCm39)	V151D	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,189,245 (GRCm39)	Q429*	probably null	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gbe1	A	G	16: 70,157,903 (GRCm39)	T101A	probably benign	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pcdha1	T	C	18: 37,063,702 (GRCm39)	V122A	probably damaging	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Trpv4	G	C	5: 114,774,520 (GRCm39)	P188R	probably benign	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	probably benign	Het

Other mutations in Sulf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Sulf2	APN	2	165,936,412 (GRCm39)	missense	possibly damaging	0.48
IGL01353:Sulf2	APN	2	165,929,015 (GRCm39)	missense	probably damaging	1.00
IGL02427:Sulf2	APN	2	165,931,218 (GRCm39)	missense	probably damaging	0.99
IGL02602:Sulf2	APN	2	165,923,220 (GRCm39)	missense	probably benign	0.32
IGL02681:Sulf2	APN	2	165,958,905 (GRCm39)	missense	probably benign	0.01
IGL03047:Sulf2	APN	2	165,922,814 (GRCm39)	splice site	probably null
PIT4468001:Sulf2	UTSW	2	165,922,720 (GRCm39)	missense	probably benign
R0029:Sulf2	UTSW	2	165,958,893 (GRCm39)	missense	possibly damaging	0.46
R0029:Sulf2	UTSW	2	165,958,893 (GRCm39)	missense	possibly damaging	0.46
R0233:Sulf2	UTSW	2	165,927,589 (GRCm39)	splice site	probably benign
R0332:Sulf2	UTSW	2	165,931,119 (GRCm39)	missense	probably benign	0.00
R0411:Sulf2	UTSW	2	165,935,436 (GRCm39)	missense	probably damaging	1.00
R0599:Sulf2	UTSW	2	165,925,799 (GRCm39)	missense	possibly damaging	0.53
R0694:Sulf2	UTSW	2	165,927,711 (GRCm39)	missense	probably damaging	1.00
R1594:Sulf2	UTSW	2	165,926,367 (GRCm39)	splice site	probably benign
R1710:Sulf2	UTSW	2	165,920,992 (GRCm39)	missense	probably benign
R1725:Sulf2	UTSW	2	165,923,281 (GRCm39)	missense	probably damaging	0.96
R1737:Sulf2	UTSW	2	165,924,598 (GRCm39)	missense	probably benign	0.01
R1775:Sulf2	UTSW	2	165,921,532 (GRCm39)	missense	probably benign	0.07
R2001:Sulf2	UTSW	2	165,922,773 (GRCm39)	missense	probably benign	0.05
R2570:Sulf2	UTSW	2	165,927,721 (GRCm39)	missense	probably benign	0.21
R4052:Sulf2	UTSW	2	165,936,510 (GRCm39)	missense	probably damaging	1.00
R4357:Sulf2	UTSW	2	165,919,497 (GRCm39)	missense	probably benign	0.01
R4613:Sulf2	UTSW	2	165,974,525 (GRCm39)	missense	probably damaging	1.00
R4790:Sulf2	UTSW	2	165,931,215 (GRCm39)	missense	probably damaging	1.00
R4858:Sulf2	UTSW	2	165,923,524 (GRCm39)	missense	probably benign	0.00
R5033:Sulf2	UTSW	2	165,923,542 (GRCm39)	missense	probably benign	0.01
R5692:Sulf2	UTSW	2	165,923,426 (GRCm39)	missense	probably benign	0.03
R5695:Sulf2	UTSW	2	165,974,678 (GRCm39)	missense	probably benign	0.03
R6504:Sulf2	UTSW	2	165,925,841 (GRCm39)	missense	probably benign	0.00
R6816:Sulf2	UTSW	2	165,924,674 (GRCm39)	missense	probably benign
R6859:Sulf2	UTSW	2	165,929,039 (GRCm39)	missense	probably damaging	1.00
R6873:Sulf2	UTSW	2	165,931,195 (GRCm39)	missense	probably damaging	0.97
R7125:Sulf2	UTSW	2	165,917,448 (GRCm39)	nonsense	probably null
R7329:Sulf2	UTSW	2	165,959,008 (GRCm39)	missense	probably damaging	1.00
R7669:Sulf2	UTSW	2	165,935,516 (GRCm39)	missense	possibly damaging	0.67
R7833:Sulf2	UTSW	2	165,921,456 (GRCm39)	missense	possibly damaging	0.92
R8421:Sulf2	UTSW	2	165,958,972 (GRCm39)	missense	probably benign	0.11
R8430:Sulf2	UTSW	2	165,916,736 (GRCm39)	missense	probably benign	0.03
R8861:Sulf2	UTSW	2	165,974,606 (GRCm39)	missense	possibly damaging	0.96
R9285:Sulf2	UTSW	2	165,935,435 (GRCm39)	missense	probably damaging	1.00
R9410:Sulf2	UTSW	2	165,936,444 (GRCm39)	missense
RF016:Sulf2	UTSW	2	165,924,523 (GRCm39)	missense	probably benign	0.01
X0063:Sulf2	UTSW	2	165,921,053 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCAACTCCTGGAAGCACAG -3'
(R):5'- ACTGTGGCTCTTGCAGAAATAAAG -3'

Sequencing Primer
(F):5'- GTACCCTTCCCTGTGATTCTGG -3'
(R):5'- AAAGGTTGGGTATTGATAGTCACCCC -3'

Posted On

2019-09-13