Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Spns2'

403005

Institutional Source

Beutler Lab

Gene Symbol

Spns2

Ensembl Gene

ENSMUSG00000040447

Gene Name

SPNS lysolipid transporter 2, sphingosine-1-phosphate

Synonyms

MMRRC Submission

042869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5285 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

72342464-72380730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72380305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 106 (A106V)

Ref Sequence

ENSEMBL: ENSMUSP00000044418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045303]

AlphaFold

Q91VM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045303
AA Change: A106V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044418
Gene: ENSMUSG00000040447
AA Change: A106V

Domain	Start	End	E-Value	Type
low complexity region	5	53	N/A	INTRINSIC
Pfam:Sugar_tr	104	308	7.6e-16	PFAM
Pfam:OATP	106	427	7.2e-13	PFAM
Pfam:MFS_1	108	476	2.7e-37	PFAM
transmembrane domain	506	528	N/A	INTRINSIC

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit symblepharon and impaired egress of T and B cells from the thymus and bone marrow, respectively. Mice homozygous for a different knock-out allele exhibit abnormal immune system, abnormal eye morphology and absent pinna reflex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,097 (GRCm39)	T12A	probably benign	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adcy8	G	T	15: 64,639,706 (GRCm39)	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,553,752 (GRCm39)	K539*	probably null	Het
Ap1m2	G	T	9: 21,216,933 (GRCm39)	Y134*	probably null	Het
Apobr	A	G	7: 126,184,175 (GRCm39)		probably benign	Het
Atl1	A	G	12: 70,001,273 (GRCm39)	K345R	probably benign	Het
Avil	T	C	10: 126,854,328 (GRCm39)	L765P	probably damaging	Het
Caps2	T	A	10: 112,044,216 (GRCm39)	Y472N	probably benign	Het
Catspere2	A	G	1: 177,931,454 (GRCm39)	K458E	unknown	Het
Cd177	A	T	7: 24,445,674 (GRCm39)	S590T	probably benign	Het
Cep295	T	C	9: 15,233,887 (GRCm39)	D2223G	probably benign	Het
Cfh	T	C	1: 140,028,636 (GRCm39)	T493A	probably benign	Het
Chek1	T	C	9: 36,625,748 (GRCm39)	D299G	probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Crhr1	A	T	11: 104,061,323 (GRCm39)	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,791,893 (GRCm39)	V500A	probably benign	Het
Dcdc5	A	T	2: 106,198,500 (GRCm39)		noncoding transcript	Het
Ergic3	A	G	2: 155,859,957 (GRCm39)		probably benign	Het
Fabp3-ps1	T	G	10: 86,568,066 (GRCm39)		probably benign	Het
Gm6445	C	A	19: 9,585,032 (GRCm39)		noncoding transcript	Het
Gucy2d	C	A	7: 98,107,474 (GRCm39)		probably null	Het
Ighv1-19-1	C	A	12: 114,667,872 (GRCm39)		probably benign	Het
Igkv2-116	G	T	6: 68,129,463 (GRCm39)	R75L	probably benign	Het
Inhbc	C	A	10: 127,193,269 (GRCm39)	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Lyst	T	C	13: 13,809,011 (GRCm39)	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Msh4	T	C	3: 153,579,350 (GRCm39)	N587S	probably benign	Het
Mug1	G	A	6: 121,818,066 (GRCm39)	E126K	probably benign	Het
Nav2	T	C	7: 49,197,982 (GRCm39)	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,283,475 (GRCm39)	I413T	probably damaging	Het
Nipa2	A	T	7: 55,582,760 (GRCm39)	Y328*	probably null	Het
Or1e25	T	A	11: 73,493,767 (GRCm39)	Y120*	probably null	Het
Or51a24	A	G	7: 103,733,340 (GRCm39)	*316R	probably null	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or5k15	A	T	16: 58,710,471 (GRCm39)	Y37*	probably null	Het
Or5k3	T	C	16: 58,969,633 (GRCm39)	L140P	probably damaging	Het
Pla2g4e	T	C	2: 120,019,985 (GRCm39)	D155G	probably damaging	Het
Plxnb1	C	T	9: 108,937,527 (GRCm39)	T1176I	probably damaging	Het
Polg	A	G	7: 79,114,973 (GRCm39)		probably benign	Het
Prl8a2	G	A	13: 27,534,116 (GRCm39)		probably null	Het
Prmt7	G	A	8: 106,974,991 (GRCm39)	R529Q	probably benign	Het
Psg17	T	A	7: 18,554,126 (GRCm39)	L41F	probably benign	Het
Rad18	T	C	6: 112,663,726 (GRCm39)	R73G	probably benign	Het
Rhpn2	G	T	7: 35,080,990 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sarm1	A	G	11: 78,388,265 (GRCm39)	F7S	probably benign	Het
Sgip1	T	A	4: 102,778,674 (GRCm39)		probably benign	Het
Sh3gl2	A	G	4: 85,294,686 (GRCm39)	K99R	probably benign	Het
Sorbs1	G	A	19: 40,310,334 (GRCm39)	T1018I	probably damaging	Het
Stab1	A	G	14: 30,865,433 (GRCm39)		probably benign	Het
Steap3	T	C	1: 120,169,610 (GRCm39)	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,674,019 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,034,191 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,509,200 (GRCm39)	S2G	possibly damaging	Het
Usp24	T	A	4: 106,264,230 (GRCm39)	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,579,457 (GRCm39)	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,843,703 (GRCm39)	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,365,442 (GRCm39)	N544S	probably damaging	Het
Vwa1	C	T	4: 155,855,352 (GRCm39)	A254T	probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,545,025 (GRCm39)	L294H	probably damaging	Het

Other mutations in Spns2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01733:Spns2	APN	11	72,347,336 (GRCm39)	missense	possibly damaging	0.79
IGL01804:Spns2	APN	11	72,348,130 (GRCm39)	missense	possibly damaging	0.89
elderly	UTSW	11	72,347,196 (GRCm39)	critical splice acceptor site	probably null
homely	UTSW	11	72,347,686 (GRCm39)	missense	probably damaging	1.00
whistler	UTSW	11	72,349,513 (GRCm39)	nonsense	probably null
Wrinkled	UTSW	11	72,347,704 (GRCm39)	missense	possibly damaging	0.81
R0883:Spns2	UTSW	11	72,345,223 (GRCm39)	missense	probably damaging	1.00
R1544:Spns2	UTSW	11	72,347,193 (GRCm39)	missense	probably benign	0.30
R1696:Spns2	UTSW	11	72,347,173 (GRCm39)	missense	probably benign	0.25
R2046:Spns2	UTSW	11	72,349,866 (GRCm39)	missense	possibly damaging	0.49
R2164:Spns2	UTSW	11	72,349,497 (GRCm39)	missense	possibly damaging	0.82
R2259:Spns2	UTSW	11	72,348,094 (GRCm39)	missense	probably benign	0.35
R4209:Spns2	UTSW	11	72,345,012 (GRCm39)	missense	probably benign	0.07
R6883:Spns2	UTSW	11	72,347,196 (GRCm39)	critical splice acceptor site	probably null
R6990:Spns2	UTSW	11	72,380,447 (GRCm39)	missense	probably benign	0.08
R7221:Spns2	UTSW	11	72,347,742 (GRCm39)	missense	probably benign	0.43
R7227:Spns2	UTSW	11	72,349,513 (GRCm39)	nonsense	probably null
R7243:Spns2	UTSW	11	72,347,686 (GRCm39)	missense	probably damaging	1.00
R7390:Spns2	UTSW	11	72,347,704 (GRCm39)	missense	possibly damaging	0.81
R7699:Spns2	UTSW	11	72,380,443 (GRCm39)	nonsense	probably null
R7700:Spns2	UTSW	11	72,380,443 (GRCm39)	nonsense	probably null
R8042:Spns2	UTSW	11	72,345,003 (GRCm39)	missense	possibly damaging	0.46
R8155:Spns2	UTSW	11	72,347,394 (GRCm39)	missense	possibly damaging	0.46
R8553:Spns2	UTSW	11	72,348,053 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGAACAGAGGGTCCTTAGG -3'
(R):5'- ATGATGTGCCTGGAATGCG -3'

Sequencing Primer
(F):5'- TCCTTAGGGACTCTCCAGAGG -3'
(R):5'- CTGGAGGTAGCGCTTGC -3'

Posted On

2016-07-22