Mutagenetix > Incidental Mutation

Incidental Mutation 'R8553:Spns2'

659980

Institutional Source

Beutler Lab

Gene Symbol

Spns2

Ensembl Gene

ENSMUSG00000040447

Gene Name

SPNS lysolipid transporter 2, sphingosine-1-phosphate

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72342464-72380730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72348053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 305 (D305N)

Ref Sequence

ENSEMBL: ENSMUSP00000044418 (fasta)

Gene Model

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

AlphaFold

Q91VM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000045303
AA Change: D305N

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

SMART Domains

Protein: ENSMUSP00000044418
Gene: ENSMUSG00000040447
AA Change: D305N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144940

SMART Domains

Protein: ENSMUSP00000120722
Gene: ENSMUSG00000040447

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,327 (GRCm39)	I80M	probably benign	Het
Acsbg3	T	A	17: 57,188,021 (GRCm39)	D176E	probably benign	Het
Aga	G	A	8: 53,973,367 (GRCm39)	R255H	probably damaging	Het
Anapc1	G	A	2: 128,461,833 (GRCm39)	P1757L	possibly damaging	Het
Arfgef3	T	A	10: 18,479,278 (GRCm39)	I1446L	probably damaging	Het
Auts2	T	C	5: 131,468,981 (GRCm39)	T779A	probably benign	Het
Cacna1s	T	C	1: 136,019,540 (GRCm39)	S778P	possibly damaging	Het
Cep164	A	T	9: 45,718,508 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,230,304 (GRCm39)	T1595A	probably benign	Het
Csmd3	G	T	15: 47,484,724 (GRCm39)	T3214K	possibly damaging	Het
Dpy30	A	G	17: 74,622,913 (GRCm39)	L23P	probably damaging	Het
Edrf1	A	G	7: 133,252,047 (GRCm39)	E391G	possibly damaging	Het
Egflam	A	T	15: 7,237,229 (GRCm39)	V985E	probably damaging	Het
Elmo3	T	C	8: 106,033,810 (GRCm39)	V201A	probably benign	Het
Entrep3	A	C	3: 89,094,153 (GRCm39)	D322A	possibly damaging	Het
Epb41l5	T	A	1: 119,477,671 (GRCm39)	D700V	possibly damaging	Het
Esr1	T	C	10: 4,947,847 (GRCm39)	S467P	probably damaging	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Fancm	A	C	12: 65,173,469 (GRCm39)	N1927T	possibly damaging	Het
Gcfc2	A	G	6: 81,912,944 (GRCm39)	T248A	probably benign	Het
Gm29106	T	A	1: 118,128,149 (GRCm39)	C614S	probably damaging	Het
Greb1	T	C	12: 16,773,328 (GRCm39)	T249A	probably benign	Het
Hectd4	T	C	5: 121,491,661 (GRCm39)	S3700P	possibly damaging	Het
Hr	T	C	14: 70,804,965 (GRCm39)	L950P	probably damaging	Het
Hsd3b3	T	A	3: 98,651,205 (GRCm39)	T82S	possibly damaging	Het
Ifit2	C	A	19: 34,550,538 (GRCm39)	A26E	probably benign	Het
Igsf9b	A	G	9: 27,244,739 (GRCm39)	D902G	probably damaging	Het
Itga4	G	A	2: 79,131,405 (GRCm39)	R591Q	probably damaging	Het
Kcnb1	A	T	2: 166,946,531 (GRCm39)	S772R	possibly damaging	Het
Klhl32	T	A	4: 24,629,343 (GRCm39)	I213L	probably benign	Het
Lcn3	A	T	2: 25,656,347 (GRCm39)		probably null	Het
Lpin2	T	A	17: 71,538,232 (GRCm39)	S293T	probably damaging	Het
Magi2	T	C	5: 20,856,198 (GRCm39)	F840S	probably benign	Het
Myt1	G	A	2: 181,439,344 (GRCm39)	E289K	possibly damaging	Het
Ndst4	A	G	3: 125,503,756 (GRCm39)	S8G	probably damaging	Het
Nlrp4f	T	C	13: 65,343,252 (GRCm39)	D109G	possibly damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Pcdhb12	C	T	18: 37,570,687 (GRCm39)	A611V	probably damaging	Het
Pcif1	A	T	2: 164,728,417 (GRCm39)	I225F	probably damaging	Het
Peli3	A	G	19: 4,984,960 (GRCm39)	F150L	probably damaging	Het
Qng1	G	A	13: 58,532,694 (GRCm39)	T92M	probably damaging	Het
Rfx7	A	G	9: 72,519,086 (GRCm39)	T263A	probably damaging	Het
Rpn1	A	G	6: 88,072,539 (GRCm39)	Y294C	probably damaging	Het
Rusc2	T	A	4: 43,416,508 (GRCm39)	S605T	probably benign	Het
Sec23ip	A	C	7: 128,355,777 (GRCm39)	Q300P	probably damaging	Het
Sh2d3c	A	G	2: 32,635,925 (GRCm39)	T98A	probably damaging	Het
Siah3	T	A	14: 75,763,067 (GRCm39)	I106K	probably benign	Het
Sult1a1	G	T	7: 126,273,333 (GRCm39)	Q177K	probably benign	Het
Tas2r109	A	G	6: 132,957,171 (GRCm39)	I253T	probably benign	Het
Tcof1	T	C	18: 60,964,643 (GRCm39)	D661G	possibly damaging	Het
Tdrd1	A	G	19: 56,831,584 (GRCm39)	N325S	probably damaging	Het
Tfcp2l1	C	A	1: 118,560,082 (GRCm39)	A58E	probably damaging	Het
Wdcp	T	C	12: 4,902,024 (GRCm39)		probably benign	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
R5285:Spns2	UTSW	11	72,380,305 (GRCm39)	missense	possibly damaging	0.92
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

Predicted Primers

PCR Primer
(F):5'- AAATGCGCTTTCTCAGGCCC -3'
(R):5'- TTAGCCTAGTAAAAGGGCCCG -3'

Sequencing Primer
(F):5'- TTTCTCAGGCCCAGCTGAG -3'
(R):5'- AGGTAAGTTGCCTGGGCC -3'

Posted On

2021-01-18