Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Sgpp1'

701109

Institutional Source

Beutler Lab

Gene Symbol

Sgpp1

Ensembl Gene

ENSMUSG00000021054

Gene Name

sphingosine-1-phosphate phosphatase 1

Synonyms

SPP, SPP1, mSPP1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75761023-75782503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75781961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 126 (E126G)

Ref Sequence

ENSEMBL: ENSMUSP00000021450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021450] [ENSMUST00000220285]

AlphaFold

Q9JI99

Predicted Effect

probably damaging
Transcript: ENSMUST00000021450
AA Change: E126G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: E126G

Domain	Start	End	E-Value	Type
low complexity region	47	63	N/A	INTRINSIC
acidPPc	150	264	1.5e-8	SMART
transmembrane domain	279	298	N/A	INTRINSIC
transmembrane domain	346	368	N/A	INTRINSIC
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220285
AA Change: E126G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal keratinocyte differentiation and epidermal homeostasis with postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,188,035 (GRCm39)	S1816R	probably benign	Het
Appl1	A	T	14: 26,649,710 (GRCm39)	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,347,893 (GRCm39)	I732F	possibly damaging	Het
Capg	T	A	6: 72,538,070 (GRCm39)	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333 (GRCm39)	F38L	probably benign	Het
Cep295	T	A	9: 15,243,605 (GRCm39)	N1617I	probably benign	Het
Cep57	C	T	9: 13,738,204 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,195,265 (GRCm39)		probably benign	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
Dock7	A	G	4: 98,857,871 (GRCm39)	V1481A	unknown	Het
Exoc2	T	C	13: 31,109,778 (GRCm39)	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565 (GRCm39)	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gad2	A	G	2: 22,525,053 (GRCm39)	E279G	possibly damaging	Het
Gria1	A	G	11: 57,128,888 (GRCm39)	Y454C	probably benign	Het
Grik3	C	T	4: 125,601,690 (GRCm39)	R856C	probably benign	Het
Hdac4	C	A	1: 91,900,511 (GRCm39)	R622I	probably damaging	Het
Hdac4	T	C	1: 91,900,512 (GRCm39)	R622G	probably benign	Het
Htt	T	C	5: 35,056,276 (GRCm39)		probably benign	Het
Idh1	A	G	1: 65,207,656 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,861,775 (GRCm39)	S1112G	probably benign	Het
Impg2	A	T	16: 56,051,823 (GRCm39)	S242C	probably damaging	Het
Itgb1	T	A	8: 129,433,587 (GRCm39)	S34T	probably benign	Het
Kcnh8	A	G	17: 53,205,542 (GRCm39)	I546V	probably damaging	Het
Klrd1	T	G	6: 129,568,795 (GRCm39)	M1R	probably null	Het
Krtap16-1	A	T	11: 99,876,644 (GRCm39)	C253*	probably null	Het
Mapk7	A	G	11: 61,384,535 (GRCm39)	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,388,073 (GRCm39)	N74D	probably benign	Het
Myd88	A	T	9: 119,168,773 (GRCm39)	S85T	probably benign	Het
Myo1c	G	T	11: 75,541,437 (GRCm39)		probably benign	Het
Nnt	T	A	13: 119,494,060 (GRCm39)	N674Y	unknown	Het
Nrcam	A	G	12: 44,620,607 (GRCm39)	Y878C	probably damaging	Het
Obscn	T	C	11: 59,023,392 (GRCm39)	T662A	probably benign	Het
Or14j4	T	C	17: 37,921,408 (GRCm39)	Q78R	probably benign	Het
Or4l15	A	G	14: 50,197,881 (GRCm39)	V216A	probably benign	Het
Or51ah3	A	G	7: 103,209,782 (GRCm39)	S33G	probably benign	Het
Or8k40	A	G	2: 86,584,282 (GRCm39)	S267P	possibly damaging	Het
Pappa2	C	A	1: 158,763,763 (GRCm39)	V583L	probably damaging	Het
Parp1	T	G	1: 180,415,680 (GRCm39)	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,619,989 (GRCm39)	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Prrc1	C	G	18: 57,496,271 (GRCm39)	S74W	possibly damaging	Het
Rag2	G	A	2: 101,460,419 (GRCm39)	G243D	probably damaging	Het
Skic2	G	A	17: 35,064,198 (GRCm39)	T496M	probably benign	Het
Slc17a1	C	A	13: 24,064,432 (GRCm39)	F329L	probably benign	Het
Slc52a3	G	A	2: 151,846,512 (GRCm39)	V158I	probably benign	Het
Slf1	T	A	13: 77,273,575 (GRCm39)	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Tmem125	A	T	4: 118,399,089 (GRCm39)	V114E	probably damaging	Het
Ube2f	A	T	1: 91,181,980 (GRCm39)		probably benign	Het
Zdhhc19	T	A	16: 32,315,992 (GRCm39)	F30I	probably damaging	Het
Zfp236	T	C	18: 82,662,050 (GRCm39)		probably benign	Het
Zfp462	C	A	4: 55,009,595 (GRCm39)	Y520*	probably null	Het
Zzz3	A	G	3: 152,133,920 (GRCm39)	D326G	probably damaging	Het

Other mutations in Sgpp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Sgpp1	APN	12	75,762,968 (GRCm39)	nonsense	probably null
IGL01348:Sgpp1	APN	12	75,781,767 (GRCm39)	missense	probably damaging	1.00
IGL01481:Sgpp1	APN	12	75,769,431 (GRCm39)	missense	probably benign	0.31
IGL03384:Sgpp1	APN	12	75,762,880 (GRCm39)	unclassified	probably benign
R0597:Sgpp1	UTSW	12	75,781,874 (GRCm39)	missense	probably damaging	1.00
R1203:Sgpp1	UTSW	12	75,763,056 (GRCm39)	missense	probably benign	0.07
R1648:Sgpp1	UTSW	12	75,762,990 (GRCm39)	missense	possibly damaging	0.94
R1842:Sgpp1	UTSW	12	75,762,982 (GRCm39)	missense	probably damaging	1.00
R1932:Sgpp1	UTSW	12	75,762,953 (GRCm39)	nonsense	probably null
R1958:Sgpp1	UTSW	12	75,782,222 (GRCm39)	missense	probably benign	0.00
R2098:Sgpp1	UTSW	12	75,763,284 (GRCm39)	missense	probably damaging	1.00
R4034:Sgpp1	UTSW	12	75,762,964 (GRCm39)	missense	probably damaging	1.00
R4730:Sgpp1	UTSW	12	75,781,713 (GRCm39)	missense	probably benign
R5531:Sgpp1	UTSW	12	75,781,981 (GRCm39)	nonsense	probably null
R6733:Sgpp1	UTSW	12	75,782,243 (GRCm39)	missense	probably benign	0.22
R6775:Sgpp1	UTSW	12	75,782,243 (GRCm39)	missense	probably benign	0.22
R6778:Sgpp1	UTSW	12	75,763,068 (GRCm39)	missense	probably benign	0.00
R6783:Sgpp1	UTSW	12	75,782,243 (GRCm39)	missense	probably benign	0.22
R6784:Sgpp1	UTSW	12	75,782,243 (GRCm39)	missense	probably benign	0.22
R6928:Sgpp1	UTSW	12	75,763,344 (GRCm39)	missense	probably damaging	1.00
R7381:Sgpp1	UTSW	12	75,763,038 (GRCm39)	missense	probably damaging	1.00
R7805:Sgpp1	UTSW	12	75,769,451 (GRCm39)	missense	probably damaging	0.97
R8113:Sgpp1	UTSW	12	75,763,374 (GRCm39)	missense	probably damaging	0.97
R8786:Sgpp1	UTSW	12	75,763,152 (GRCm39)	missense	probably benign
R9035:Sgpp1	UTSW	12	75,782,238 (GRCm39)	missense	probably benign
R9310:Sgpp1	UTSW	12	75,769,374 (GRCm39)	missense	probably benign	0.34
RF043:Sgpp1	UTSW	12	75,769,399 (GRCm39)	frame shift	probably null
X0018:Sgpp1	UTSW	12	75,763,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCCAGCTTGATGACAGG -3'
(R):5'- TTCTTCGCACAGCAACCAG -3'

Sequencing Primer
(F):5'- CTTGATGACAGGCGGCGAG -3'
(R):5'- ATCAATTCCCGAGTGGCC -3'

Posted On

2022-03-25