Mutagenetix > Incidental Mutation

Incidental Mutation 'R5768:Papss2'

462740

Institutional Source

Beutler Lab

Gene Symbol

Papss2

Ensembl Gene

ENSMUSG00000024899

Gene Name

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Synonyms

Sk2, Atpsk2, 1810018P12Rik

MMRRC Submission

043368-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R5768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32573190-32644587 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 32638119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025833]

AlphaFold

O88428

Predicted Effect

probably null
Transcript: ENSMUST00000025833

SMART Domains

Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899

Domain	Start	End	E-Value	Type
Pfam:APS_kinase	42	200	2.3e-74	PFAM
low complexity region	204	214	N/A	INTRINSIC
Pfam:PUA_2	216	382	4e-52	PFAM
Pfam:ATP-sulfurylase	390	613	1.9e-70	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,177,426 (GRCm39)	T561I	probably benign	Het
Akp3	T	C	1: 87,054,844 (GRCm39)	I393T	probably damaging	Het
Atxn10	A	T	15: 85,277,621 (GRCm39)	I363F	probably benign	Het
BC004004	A	T	17: 29,501,709 (GRCm39)	S83C	probably damaging	Het
Bin1	T	A	18: 32,559,264 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,674,641 (GRCm39)	I541T	probably damaging	Het
Cand1	A	G	10: 119,046,910 (GRCm39)	V860A	probably benign	Het
Ccdc69	T	C	11: 54,945,856 (GRCm39)	N50S	possibly damaging	Het
Cd209d	T	A	8: 3,921,968 (GRCm39)	T235S	probably benign	Het
Cdhr3	G	T	12: 33,096,685 (GRCm39)	T591K	possibly damaging	Het
Cherp	C	T	8: 73,216,957 (GRCm39)	D658N	probably damaging	Het
Clip4	T	A	17: 72,113,494 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,492,242 (GRCm39)	V195M	probably damaging	Het
Cst11	A	T	2: 148,612,387 (GRCm39)	Y83*	probably null	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Ddi2	A	T	4: 141,412,901 (GRCm39)	L4M	probably damaging	Het
Dip2b	C	A	15: 100,055,826 (GRCm39)	P393T	probably benign	Het
Dnmt3a	G	A	12: 3,935,660 (GRCm39)		probably null	Het
Elf5	C	T	2: 103,279,367 (GRCm39)	S196L	probably damaging	Het
Eps15	C	G	4: 109,220,373 (GRCm39)		probably null	Het
Fra10ac1	T	C	19: 38,195,734 (GRCm39)	E163G	probably benign	Het
Gc	T	C	5: 89,589,125 (GRCm39)	T213A	probably damaging	Het
Grpel1	A	T	5: 36,622,503 (GRCm39)		probably benign	Het
Gsdme	G	A	6: 50,196,280 (GRCm39)	Q377*	probably null	Het
Hira	T	C	16: 18,753,768 (GRCm39)		probably benign	Het
Hsd11b1	T	A	1: 192,922,554 (GRCm39)	I168F	probably damaging	Het
Htr6	G	A	4: 138,789,015 (GRCm39)	R347W	probably damaging	Het
Ipp	A	C	4: 116,367,967 (GRCm39)	T67P	probably damaging	Het
Lrfn5	G	A	12: 61,886,509 (GRCm39)	R99Q	probably benign	Het
Madd	T	A	2: 90,998,174 (GRCm39)	I649F	probably damaging	Het
Map2k7	T	A	8: 4,295,757 (GRCm39)	D368E	probably benign	Het
Mppe1	T	G	18: 67,358,889 (GRCm39)	T360P	possibly damaging	Het
Msi2	A	G	11: 88,608,564 (GRCm39)	F2L	probably damaging	Het
Nectin3	T	C	16: 46,279,180 (GRCm39)	Q266R	probably damaging	Het
Nfasc	T	C	1: 132,532,883 (GRCm39)	H691R	probably benign	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or4c117	T	C	2: 88,955,793 (GRCm39)	E94G	probably benign	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,736 (GRCm39)	K549E	probably benign	Het
Plekha6	A	G	1: 133,208,116 (GRCm39)	T596A	probably benign	Het
Polr2f	A	G	15: 79,035,845 (GRCm39)	D117G	probably damaging	Het
Psd	T	C	19: 46,301,178 (GRCm39)	E381G	possibly damaging	Het
Rfx6	G	A	10: 51,602,976 (GRCm39)	R831H	probably damaging	Het
Rpp25l	A	T	4: 41,712,649 (GRCm39)	L42Q	probably damaging	Het
Ryr3	T	C	2: 112,583,442 (GRCm39)	M2810V	probably benign	Het
Sdk1	C	A	5: 142,129,626 (GRCm39)	L1616I	probably benign	Het
Spock2	T	A	10: 59,962,029 (GRCm39)	F215I	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tchh	A	T	3: 93,353,488 (GRCm39)	E976V	unknown	Het
Tgfbr3	T	C	5: 107,297,761 (GRCm39)	E213G	probably benign	Het
Tmed1	T	C	9: 21,420,619 (GRCm39)	D71G	probably benign	Het
Tmtc4	T	A	14: 123,170,565 (GRCm39)	K527N	possibly damaging	Het
Zfhx2	T	C	14: 55,311,822 (GRCm39)	T291A	probably benign	Het

Other mutations in Papss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Papss2	APN	19	32,615,658 (GRCm39)	missense	probably damaging	1.00
IGL01646:Papss2	APN	19	32,629,482 (GRCm39)	missense	probably benign
IGL02052:Papss2	APN	19	32,637,983 (GRCm39)	missense	possibly damaging	0.92
IGL02631:Papss2	APN	19	32,611,404 (GRCm39)	splice site	probably benign
diablo	UTSW	19	32,615,760 (GRCm39)	missense	probably damaging	1.00
R0091:Papss2	UTSW	19	32,611,302 (GRCm39)	missense	possibly damaging	0.94
R0116:Papss2	UTSW	19	32,615,768 (GRCm39)	nonsense	probably null
R0708:Papss2	UTSW	19	32,614,616 (GRCm39)	missense	probably damaging	0.97
R1336:Papss2	UTSW	19	32,615,715 (GRCm39)	missense	possibly damaging	0.73
R1488:Papss2	UTSW	19	32,614,490 (GRCm39)	missense	probably benign	0.02
R1931:Papss2	UTSW	19	32,616,368 (GRCm39)	nonsense	probably null
R4025:Papss2	UTSW	19	32,629,323 (GRCm39)	missense	probably damaging	0.98
R4369:Papss2	UTSW	19	32,618,791 (GRCm39)	missense	probably damaging	1.00
R4762:Papss2	UTSW	19	32,616,378 (GRCm39)	missense	probably benign	0.05
R5235:Papss2	UTSW	19	32,616,619 (GRCm39)	missense	probably benign	0.00
R5294:Papss2	UTSW	19	32,616,400 (GRCm39)	missense	probably benign	0.03
R5320:Papss2	UTSW	19	32,615,787 (GRCm39)	missense	probably damaging	1.00
R5721:Papss2	UTSW	19	32,638,064 (GRCm39)	missense	probably damaging	1.00
R5982:Papss2	UTSW	19	32,616,636 (GRCm39)	missense	probably benign
R6124:Papss2	UTSW	19	32,614,528 (GRCm39)	missense	probably damaging	1.00
R6395:Papss2	UTSW	19	32,641,876 (GRCm39)	missense	probably damaging	1.00
R6546:Papss2	UTSW	19	32,640,548 (GRCm39)	missense	possibly damaging	0.78
R6571:Papss2	UTSW	19	32,629,342 (GRCm39)	splice site	probably null
R7055:Papss2	UTSW	19	32,641,827 (GRCm39)	missense	probably damaging	1.00
R7315:Papss2	UTSW	19	32,616,625 (GRCm39)	missense	possibly damaging	0.60
R7726:Papss2	UTSW	19	32,611,403 (GRCm39)	splice site	probably null
R7753:Papss2	UTSW	19	32,597,579 (GRCm39)	missense	probably benign	0.00
R7991:Papss2	UTSW	19	32,629,403 (GRCm39)	missense	possibly damaging	0.93
R8155:Papss2	UTSW	19	32,618,742 (GRCm39)	missense	probably benign	0.24
R8275:Papss2	UTSW	19	32,615,760 (GRCm39)	missense	probably damaging	1.00
R9135:Papss2	UTSW	19	32,618,764 (GRCm39)	missense	probably damaging	1.00
R9425:Papss2	UTSW	19	32,615,750 (GRCm39)	missense	possibly damaging	0.61
X0028:Papss2	UTSW	19	32,615,795 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCATAGTTACCATTAACTTTAGTG -3'
(R):5'- AGAGTGAGCGGGGTTGACTG -3'

Sequencing Primer
(F):5'- AGTGATTTTCCTTCTAGATGGTGATG -3'
(R):5'- TGTACAGCTACAGTGTACTCAC -3'

Posted On

2017-03-01