Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Papss2'

597410

Institutional Source

Beutler Lab

Gene Symbol

Papss2

Ensembl Gene

ENSMUSG00000024899

Gene Name

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Synonyms

Sk2, Atpsk2, 1810018P12Rik

MMRRC Submission

045809-MU

Accession Numbers

Essential gene?

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

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32573190-32644587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32597579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 9 (H9L)

Ref Sequence

ENSEMBL: ENSMUSP00000025833 (fasta)

Gene Model

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

AlphaFold

O88428

Predicted Effect

probably benign
Transcript: ENSMUST00000025833
AA Change: H9L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899
AA Change: H9L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,933 (GRCm39)	T1377A	probably damaging	Het
AI661453	G	T	17: 47,778,439 (GRCm39)	E722*	probably null	Het
Ap2b1	A	T	11: 83,258,733 (GRCm39)	K735*	probably null	Het
Aqp4	T	C	18: 15,533,033 (GRCm39)	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,729,440 (GRCm39)	V117L	probably benign	Het
C1rb	A	G	6: 124,557,390 (GRCm39)	N509S	probably benign	Het
Cep44	A	G	8: 56,985,842 (GRCm39)	V350A	probably benign	Het
Cmya5	T	C	13: 93,234,680 (GRCm39)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,001,691 (GRCm39)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,441,164 (GRCm39)	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,350,861 (GRCm39)	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,899,007 (GRCm39)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,061,448 (GRCm39)	D294G	probably benign	Het
Ddx10	A	T	9: 53,136,904 (GRCm39)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,371,755 (GRCm39)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,991,560 (GRCm39)	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,179,354 (GRCm39)	Q60L	probably damaging	Het
Farsb	T	A	1: 78,456,740 (GRCm39)	E41D	probably benign	Het
Frem1	T	C	4: 82,832,217 (GRCm39)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,056,992 (GRCm39)	Y346*	probably null	Het
Fzd7	A	T	1: 59,522,641 (GRCm39)	S175C	probably benign	Het
Gdi2	A	G	13: 3,598,956 (GRCm39)	T47A	probably benign	Het
Gpr155	A	T	2: 73,212,550 (GRCm39)	H24Q	probably benign	Het
Hdac7	A	T	15: 97,698,642 (GRCm39)	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,704,369 (GRCm39)	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,802,336 (GRCm39)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,417,519 (GRCm39)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,745,761 (GRCm39)	S46R	probably benign	Het
Itk	T	A	11: 46,222,722 (GRCm39)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,481,218 (GRCm39)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 141,729,136 (GRCm39)		probably benign	Het
Lce1m	C	A	3: 92,925,815 (GRCm39)	G41W	unknown	Het
Mapk10	T	A	5: 103,186,419 (GRCm39)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,345,856 (GRCm39)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,081,931 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,317,475 (GRCm39)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,863,288 (GRCm39)	D426E	probably benign	Het
Nol4	T	A	18: 23,171,659 (GRCm39)	M1L	probably benign	Het
Nr1h3	A	G	2: 91,015,370 (GRCm39)	F338S	probably damaging	Het
Oasl2	A	G	5: 115,043,118 (GRCm39)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,406,141 (GRCm39)	T238A	probably benign	Het
Or10z1	C	T	1: 174,078,236 (GRCm39)	V86I	probably benign	Het
Or4f14	A	G	2: 111,742,927 (GRCm39)	I116T	probably benign	Het
Or56a5	T	C	7: 104,793,007 (GRCm39)	I164M	probably benign	Het
Or5m5	A	G	2: 85,815,060 (GRCm39)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 108,990,970 (GRCm39)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,789,687 (GRCm39)	Y527N	probably damaging	Het
Pcdha4	C	A	18: 37,086,354 (GRCm39)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,730,131 (GRCm39)	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,357,425 (GRCm39)	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,984,597 (GRCm39)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,333,376 (GRCm39)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,347,868 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,239,141 (GRCm39)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,855,817 (GRCm39)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,364,415 (GRCm39)	P143L	probably benign	Het
Sugct	A	T	13: 17,752,104 (GRCm39)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,085,697 (GRCm39)	R141Q	probably benign	Het
Taok1	T	C	11: 77,428,725 (GRCm39)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,269,306 (GRCm39)		probably null	Het
Thada	T	C	17: 84,559,818 (GRCm39)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,852,156 (GRCm39)	L104S	probably damaging	Het
Tln2	T	G	9: 67,302,755 (GRCm39)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,705,137 (GRCm39)	E75G	probably damaging	Het
Tox3	A	G	8: 90,975,560 (GRCm39)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,197,603 (GRCm39)	V4492A	unknown	Het
Ulk4	A	G	9: 121,095,578 (GRCm39)		probably null	Het
Ush2a	A	G	1: 188,175,603 (GRCm39)	T1234A	probably benign	Het
Usp53	G	A	3: 122,742,887 (GRCm39)	T683I	probably damaging	Het
Vcan	T	A	13: 89,837,442 (GRCm39)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,399,834 (GRCm39)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,806,663 (GRCm39)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,213,040 (GRCm39)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,374,895 (GRCm39)	D785G	probably benign	Het
Zfp397	A	T	18: 24,090,129 (GRCm39)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,904,249 (GRCm39)	T1393S	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
R7726:Papss2	UTSW	19	32,611,403 (GRCm39)	splice site	probably null
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'- AGTTGTGCCAGCCAGAAGAG -3'
(R):5'- TTTGGAGTGTCAGAAGGCAG -3'

Sequencing Primer
(F):5'- GTGCTGCAGTAGAAAGTCTGAATTC -3'
(R):5'- TGTCAGAAGGCAGCCCAGAC -3'

Posted On

2019-11-26