Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Papss2'

215417

Institutional Source

Beutler Lab

Gene Symbol

Papss2

Ensembl Gene

ENSMUSG00000024899

Gene Name

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Synonyms

Sk2, Atpsk2, 1810018P12Rik

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R1931 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

32620005-32667187 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 32638968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 191 (C191*)

Ref Sequence

ENSEMBL: ENSMUSP00000025833 (fasta)

Gene Model

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

AlphaFold

O88428

Predicted Effect

probably null
Transcript: ENSMUST00000025833
AA Change: C191*

SMART Domains

Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899
AA Change: C191*

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
Aak1	T	G	6: 86,956,336	S430A	unknown	Het
Abhd16a	T	A	17: 35,101,015	F337L	probably benign	Het
Acsl1	C	A	8: 46,530,986	A514E	probably benign	Het
Adam29	T	C	8: 55,873,089	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,599	Q647K	probably benign	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,342,411	E961G	possibly damaging	Het
AU022751	T	C	X: 6,082,763	E66G	probably benign	Het
AW011738	T	C	4: 156,203,540		probably benign	Het
Bcl9	T	C	3: 97,205,144	M1332V	probably damaging	Het
Birc6	T	C	17: 74,565,982	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,332	I139F	probably damaging	Het
Col4a4	A	C	1: 82,466,600		probably null	Het
Coro2a	A	T	4: 46,539,138	*544R	probably null	Het
Cox15	C	T	19: 43,746,785	R181H	probably benign	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,133,252	N278D	probably benign	Het
Dgkh	T	C	14: 78,616,505	I265V	probably damaging	Het
Diexf	T	A	1: 193,118,309	K401I	probably damaging	Het
Dpp3	A	T	19: 4,917,860		probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Ece1	A	G	4: 137,938,763	K306R	probably benign	Het
Eif4b	T	C	15: 102,088,976	S309P	unknown	Het
Eml3	G	A	19: 8,937,143	V507M	probably benign	Het
Fat1	C	T	8: 45,044,228	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,907	I309L	probably damaging	Het
Fsip2	T	A	2: 82,986,733	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,638,237	K206E	probably damaging	Het
Gfm1	A	G	3: 67,456,585	K465E	probably benign	Het
Gpld1	A	T	13: 24,943,710	I32L	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,512		probably null	Het
Hoxd12	A	G	2: 74,675,513	T143A	probably benign	Het
Hoxd12	A	G	2: 74,675,531	T149A	probably benign	Het
Hspg2	T	A	4: 137,540,230	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,541,222	N287I	probably damaging	Het
Itga4	G	A	2: 79,313,844		probably null	Het
Itpr2	A	G	6: 146,240,354	V1730A	probably benign	Het
Klkb1	T	A	8: 45,275,477	Q415L	probably benign	Het
Lcn10	A	G	2: 25,684,335	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,536,268	V294A	probably damaging	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Naaa	A	G	5: 92,278,035	V33A	probably benign	Het
Nckap5l	A	G	15: 99,427,261	F454L	probably damaging	Het
Nol10	A	G	12: 17,348,554	M1V	probably null	Het
Olfm1	G	A	2: 28,222,662		probably null	Het
Olfr520	G	T	7: 99,735,860	R239L	possibly damaging	Het
Olfr784	T	A	10: 129,387,876	M81K	probably benign	Het
Olfr849	T	C	9: 19,441,351	L146P	possibly damaging	Het
Osbp2	T	C	11: 3,726,333		probably null	Het
Osbpl1a	T	A	18: 12,905,194	Q269L	probably benign	Het
Pbxip1	A	T	3: 89,447,677		probably null	Het
Pdp1	A	G	4: 11,962,074	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612	T452A	probably benign	Het
Polr2a	A	T	11: 69,735,375	Y1612N	unknown	Het
Polr3c	A	T	3: 96,719,298	L270H	probably damaging	Het
Prr11	A	T	11: 87,106,042	L32*	probably null	Het
Ptgfr	T	A	3: 151,835,194	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rps6kb1	A	G	11: 86,532,821	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,093,933	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,508	S924P	probably benign	Het
Slc16a5	A	T	11: 115,469,368	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spata3	A	C	1: 86,022,061		probably benign	Het
St8sia6	A	G	2: 13,792,812	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698	R470*	probably null	Het
Stradb	A	C	1: 58,991,105	N173H	probably benign	Het
Sugp1	T	A	8: 70,071,540	D598E	probably benign	Het
Tekt2	T	C	4: 126,322,817		probably null	Het
Tiam2	C	T	17: 3,514,725	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,569,062	S301G	probably benign	Het
Tnrc18	A	T	5: 142,776,324	N515K	unknown	Het
Togaram1	A	G	12: 64,966,935	Y320C	probably damaging	Het
Trim41	A	G	11: 48,807,492	V549A	probably damaging	Het
Ugt2b1	T	A	5: 86,917,841	L446F	probably damaging	Het
Unc5b	T	C	10: 60,772,569	T621A	probably benign	Het
Vmn1r214	C	A	13: 23,035,324	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,553,810	K428*	probably null	Het
Vmn2r81	A	C	10: 79,293,494	I740L	probably damaging	Het
Wdfy3	A	G	5: 101,941,492	L612P	probably damaging	Het
Zfp109	G	A	7: 24,228,736	T424M	probably damaging	Het
Zfp735	A	T	11: 73,711,851	K540N	possibly damaging	Het

Other mutations in Papss2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Papss2	APN	19	32638258	missense	probably damaging	1.00
IGL01646:Papss2	APN	19	32652082	missense	probably benign
IGL02052:Papss2	APN	19	32660583	missense	possibly damaging	0.92
IGL02631:Papss2	APN	19	32634004	splice site	probably benign
diablo	UTSW	19	32638360	missense	probably damaging	1.00
R0091:Papss2	UTSW	19	32633902	missense	possibly damaging	0.94
R0116:Papss2	UTSW	19	32638368	nonsense	probably null
R0708:Papss2	UTSW	19	32637216	missense	probably damaging	0.97
R1336:Papss2	UTSW	19	32638315	missense	possibly damaging	0.73
R1488:Papss2	UTSW	19	32637090	missense	probably benign	0.02
R4025:Papss2	UTSW	19	32651923	missense	probably damaging	0.98
R4369:Papss2	UTSW	19	32641391	missense	probably damaging	1.00
R4762:Papss2	UTSW	19	32638978	missense	probably benign	0.05
R5235:Papss2	UTSW	19	32639219	missense	probably benign	0.00
R5294:Papss2	UTSW	19	32639000	missense	probably benign	0.03
R5320:Papss2	UTSW	19	32638387	missense	probably damaging	1.00
R5721:Papss2	UTSW	19	32660664	missense	probably damaging	1.00
R5768:Papss2	UTSW	19	32660719	splice site	probably null
R5982:Papss2	UTSW	19	32639236	missense	probably benign
R6124:Papss2	UTSW	19	32637128	missense	probably damaging	1.00
R6395:Papss2	UTSW	19	32664476	missense	probably damaging	1.00
R6546:Papss2	UTSW	19	32663148	missense	possibly damaging	0.78
R6571:Papss2	UTSW	19	32651942	splice site	probably null
R7055:Papss2	UTSW	19	32664427	missense	probably damaging	1.00
R7315:Papss2	UTSW	19	32639225	missense	possibly damaging	0.60
R7726:Papss2	UTSW	19	32634003	splice site	probably null
R7753:Papss2	UTSW	19	32620179	missense	probably benign	0.00
R7991:Papss2	UTSW	19	32652003	missense	possibly damaging	0.93
R8155:Papss2	UTSW	19	32641342	missense	probably benign	0.24
R8275:Papss2	UTSW	19	32638360	missense	probably damaging	1.00
R9135:Papss2	UTSW	19	32641364	missense	probably damaging	1.00
R9425:Papss2	UTSW	19	32638350	missense	possibly damaging	0.61
X0028:Papss2	UTSW	19	32638395	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGGATGGACTGTTCAAAGTC -3'
(R):5'- GTTACTGAGATTGGCCAGGG -3'

Sequencing Primer
(F):5'- GATGGACTGTTCAAAGTCTTAGTTAC -3'
(R):5'- GATTATCTTTCAACACACACACATG -3'

Posted On

2014-07-14