Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Papss2'

628490

Institutional Source

Beutler Lab

Gene Symbol

Papss2

Ensembl Gene

ENSMUSG00000024899

Gene Name

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Synonyms

Sk2, Atpsk2, 1810018P12Rik

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

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

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32573190-32644587 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 32611403 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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 44,104,208 (GRCm39)	N479T	probably damaging	Het
Add3	C	G	19: 53,227,892 (GRCm39)	L526V	probably damaging	Het
Alas1	T	C	9: 106,124,150 (GRCm39)	T3A	probably benign	Het
Arap3	C	T	18: 38,122,520 (GRCm39)	D579N	probably damaging	Het
Armc6	C	A	8: 70,675,248 (GRCm39)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 87,251,813 (GRCm39)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,690,504 (GRCm39)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,639,559 (GRCm39)	D112E	probably benign	Het
Brf1	T	G	12: 112,927,865 (GRCm39)	K438T	probably benign	Het
Cabs1	A	T	5: 88,128,145 (GRCm39)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,429,071 (GRCm39)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,339,230 (GRCm39)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,213,510 (GRCm39)	*120W	probably null	Het
Col17a1	C	A	19: 47,643,629 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,385,621 (GRCm39)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,290,690 (GRCm39)	S337*	probably null	Het
Cx3cl1	T	C	8: 95,506,867 (GRCm39)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,396,389 (GRCm39)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,650,219 (GRCm39)	Q322K	possibly damaging	Het
Ero1b	A	G	13: 12,620,722 (GRCm39)	*494W	probably null	Het
Exph5	G	A	9: 53,284,475 (GRCm39)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam222b	A	G	11: 78,044,577 (GRCm39)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,420,086 (GRCm39)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,373,656 (GRCm39)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,860,310 (GRCm39)	I2119F	probably benign	Het
Gpr37	G	A	6: 25,669,116 (GRCm39)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,808,644 (GRCm39)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,407,204 (GRCm39)	N342S	probably benign	Het
Kcnh6	T	C	11: 105,908,401 (GRCm39)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,627,840 (GRCm39)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,519,751 (GRCm39)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm39)	Y306*	probably null	Het
Manba	C	T	3: 135,223,770 (GRCm39)	T219M	probably benign	Het
Mastl	T	C	2: 23,030,807 (GRCm39)		probably null	Het
Med15	T	G	16: 17,473,038 (GRCm39)	M550L	possibly damaging	Het
Men1	G	A	19: 6,387,312 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,571,957 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,822 (GRCm39)	D32E	probably damaging	Het
Ntmt2	A	G	1: 163,530,753 (GRCm39)	C229R	probably benign	Het
Ntn4	A	G	10: 93,569,544 (GRCm39)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,151,623 (GRCm39)	P393S	probably damaging	Het
Or2y1d	T	A	11: 49,321,727 (GRCm39)	C141*	probably null	Het
Or6b2b	A	T	1: 92,419,029 (GRCm39)	F149L	probably benign	Het
Pakap	C	T	4: 57,709,876 (GRCm39)	P274S	probably damaging	Het
Pcdhgc3	T	C	18: 37,939,932 (GRCm39)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 126,577,069 (GRCm39)	V988I	probably benign	Het
Pom121	C	T	5: 135,407,002 (GRCm39)	G1178S	probably damaging	Het
Prss33	A	G	17: 24,053,203 (GRCm39)	C213R	probably damaging	Het
Scap	G	A	9: 110,207,435 (GRCm39)		probably null	Het
Shfl	T	C	9: 20,784,461 (GRCm39)	Y182H	possibly damaging	Het
Sirpb1c	T	A	3: 15,902,550 (GRCm39)	I10F	possibly damaging	Het
Slc28a2b	A	G	2: 122,317,214 (GRCm39)	E25G	probably damaging	Het
Spata31e2	C	A	1: 26,723,579 (GRCm39)	A534S	probably benign	Het
Spink5	T	C	18: 44,096,419 (GRCm39)	L16P	probably damaging	Het
Sting1	C	T	18: 35,868,318 (GRCm39)	A261T	probably damaging	Het
Stk4	T	G	2: 163,952,146 (GRCm39)	M1R	probably null	Het
Stub1	A	T	17: 26,050,106 (GRCm39)	Y253*	probably null	Het
Tasor	C	A	14: 27,169,454 (GRCm39)	N338K	probably damaging	Het
Tbce	A	G	13: 14,203,875 (GRCm39)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,379,065 (GRCm39)	R590G	probably benign	Het
Ubr4	C	T	4: 139,186,231 (GRCm39)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,182,939 (GRCm39)	C253*	probably null	Het
Wfdc8	C	A	2: 164,441,906 (GRCm39)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,621,975 (GRCm39)	D441G	probably benign	Het
Zscan4d	G	T	7: 10,899,169 (GRCm39)	P36Q	possibly damaging	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
R5768:Papss2	UTSW	19	32,638,119 (GRCm39)	splice site	probably null
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
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'- GACACTGTTGTATACTGCAACTC -3'
(R):5'- AATCTGCTTAGGGGTGCATAGG -3'

Sequencing Primer
(F):5'- TGTATGTGTTCTGTGTAAAGCATAC -3'
(R):5'- CTTAGGGGTGCATAGGAGAAGCTC -3'

Posted On

2020-04-21